Acc. No. Chr Gene SNP ID1 Nt change2 Distance from transcription

Acc. No. Chr Gene SNP ID1 Nt change2 Distance from transcription

Samples exceeding threshold
deviation6
Allelic ratio range in
informative heterozygotes5
Success rate4
Total no. of heterozygotes
informative for allelic
imbalance
No. of unrelated
heterozygotes informative
for allelic imbalance
Minor allele frequency
Total no. of samples
genotyped
Unrelated samples genotyped
Distance from transcription
start3
Nt change2
SNP ID1
Gene
Chr
Acc. No.
13
5q31-
NM_006437
NM_000024
q32
13
NM_006437
ADRB2
ADPRTL1
ADPRTL1
G to C
rs1042717 G to A
rs13428
tsc415543 A to G
471
77508
11090
56
51
72
56
51
100
0.17
0.4
0.38
10
14
26
10
14
38
67%
67%
97%
LY28 -0.14,
0.12
0.187
-0.50 -
0.062
LY40 -0.144,
LY55 -0.500,
LY14 0.187,
LY12 0.104,
-0.092 - NONE
LY62 -0.14
LY42 0.11,
LY17 0.12,
-0.14 -
+
+
NA
SNP information on genes in which two or more unrelated informative sample showed replicable
allelic imbalances (including the control genes PEG-10, MEST and ATP10C)
Replicability of allelic
imbalance7
LY01 -0.147,
LY48 -0.136
NM_001641 14q11.2
APEX
rs1130409 A to G
1738
60
60
0.49
28
28
100%
-q12
-0.191 - LY54 0.22,
0.223
+
LY30 -0.19,
LY02 -0.16,
LY09 0.146
NM_024490
15q11q13
ATP10C
rs2076743 T to C 182550
54
54
0.25
18
18
86%
-0.50 0.50
LY16 -0.50,
LY25 0.50,
LY33 -0.50,
LY35 0.50,
LY40 -0.38,
LY41 0.18,
LY43 -0.50,
LY60 -0.40,
LY61 0.50,
LY62 0.50,
LY63 -0.50,
LY08 0.46,
LY45 -0.50,
LY46 0.21,
LY65 0.35,
LY47 -0.32,
LY49 0.27,
+
LY66 -0.27
NM_007047
6p22.2
BTN3A2
rs1985732 A to G
10703
73
101
0.26
20
31
80%
-0.50 -
LY12 -0.50,
0.05
LY14 -0.38,
+
LY21 -0.49,
LY57 -0.42,
LY61 -0.41,
LY48 -0.46,
LY58 -0.44,
LY38 -0.42,
LY105 -0.39,
LY85 -0.46,
LY106 -0.39,
LY107 -0.40
NM_007047
6p22.2
BTN3A2
NM_007047 A to G
.1 (1305)
10645
72
100
0.09
13
19
100%
-0.50 - - LY12 -0.50,
0.33
LY14 -0.36,
LY21 -0.46,
LY56 -0.40,
LY57 -0.38,
LY58 -0.36,
LY38 -0.46,
LY42 -0.35,
LY61 -0.33,
LY48 -0.36,
+
LY50 -0.45,
LY66 -0.49,
LY79 -0.29,
LY81 -0.40,
LY105 -0.33,
LY85 -0.49,
LY86 -0.35,
LY106 -0.31,
LY107 -0.30
NM_001752
11p13
CAT
rs769217
C to T
22419
65
94
0.27
23
36
100%
-0.410 - LY12 0.463,
0.463
+
LY80 -0.410,
LY90 0.254
NM_001752
11p13
CAT
rs1049982 C to T
49
18
42
0.28
8
17
100%
-0.041 - LY90 0.151
+
0.151
NM_000648
3p21
CCR2
rs1799864 G to A
242
62
62
0.13
9
9
90%
-0.291 - LY15 -0.291,
0.263
+
LY16 0.263,
LY03 -0.161
NM_001337
3p21.3
CX3CR1
NM_001337 C to T
(926)
14361
60
87
0.16
13
24
96%
-0.298 - LY05 0.163,
0.163
LY09 0.162,
LY15 -0.298,
LY73 -0.100,
LY75 -0.243,
LY99 -0.110,
+
LY42 -0.226
NM_001337
3p21.3
CX3CR1
NM_001337 G to A
14267
47
47
0.17
10
10
100%
(832)
-0.321 - LY05 0.147,
0.147
+
LY15 -0.321,
LY37 0.147,
LY40 0.116,
LY42 -0.287
AL832642
11p13
CD44
AL832642( C to T
92449
60
88
0.4
26
39
100%
3940)
-0.088 - LY102 0.129,
0.190
+
LY87 -0.118,
LY37 0.121
NM_000610
11p13
CD44
rs17640
G to A
90496
73
101
0.29
33
44
100%
-0.149 - LY12 0.208,
0.208
+
LY32 0.105,
LY37 -0.149,
LY102 -0.137,
LY86 0.103
NM_001983 19q13.2
ERCC1
rs11615
C to T
3521
52
52
0.37
18
18
75%
-q13.3
-0.223 - LY24 -0.113,
0.103
+
LY25 0.103,
LY44 -0.113,
LY59 -0.149,
LY63 -0.223,
LY46 -0.105,
LY47 -0.144
NM_004106
1q23
FCER1G
rs11421
T to C
3850
73
101
0.18
21
27
100%
-0.266 - LY12 0.105,
0.369
LY56 0.369,
+
LY57 -0.120,
LY58 -0.196,
LY60 -0.266,
LY65 -0.119,
LY51 -0.124
NM_004106
1q23
FCER1G
rs3557
T to G
3807
73
101
0.05
6
19
100%
-0.207 - LY27 -0.207,
0.115
NM_004111
11q12
FEN1
rs412334
C to T
112
59
59
0.09
11
11
100%
LY102 0.115
-0.356 - LY13 -0.265,
0.203
+
+
LY14 0.123,
LY27 0.163,
LY36 0.112,
LY41 0.177,
LY63 0.20,
LY65 -0.220,
LY47 -0.356,
LY50 -0.165
NM_005141
4q28
FGB
R448K
G to A
7597
21
21
0.17
5
5
100%
-0.50 -
LY20 -0.440,
0.50
LY23 -0.493,
+
LY29 -0.500,
LY06 0.466,
LY50 0.500
NM_005141
4q28
FGB
Y345Y
C to T
6670
22
28
0.14
3
6
75%
-0.50 0.50
LY23 -0.500,
LY06 0.500,
+
LY50 0.504,
LY106 -0.403,
LY107 0.500,
LY108 0.472
NM_000621
13q14-
HTR2A
rs6313
C to T
234
17
42
0.32
5
11
50%
q21
-0.439 - LY72 0.500,
0.548
+
LY80 0.387,
LY94 0.500,
LY34 0.474,
LY38 0.405,
LY97 0.500,
LY77 -0.439,
LY85 0.500
NM_000618
12q22q23
IGF1
rs6220
A to G
79810
66
94
0.37
29
41
100%
-0.413 - LY11 -0.257,
0.271
LY12 0.135,
LY25 0.259,
LY31 0.271,
LY32 0.114,
LY35 0.150,
LY63 0.198,
LY45 0.217,
LY46 0.169,
LY47 0.123,
LY88 -0.414,
+
LY97 -0.207,
LY84 0.113,
LY99 -0.284,
LY98 0.135
NM_013371
1q32.2
IL19
rs2243191 C to T
8253
73
101
0.29
29
40
100%
-0.189 - LY08 0.149,
0.149
+
LY51 -0.189,
LY40 -0.125
NM_013371
1q32.2
IL19
rs2243193 G to A
8524
72
100
0.42
36
47
100%
-0.160 - LY05 -0.159,
0.104
+
LY08 0.104,
LY48 -0.114,
LY40 -0.156
NM_000575
2q14
IL1A
rs17561
C to A
4825
69
97
0.22
22
39
98%
-0.50 0.45
LY14 0.160,
LY27 -0.500,
LY29 0.407,
LY37 -0.500,
LY43 0.101,
LY62 -0.500,
LY45 0.373,
LY48 0.357,
LY71 0.102,
LY14 0.198,
LY74 -0.432,
LY97 -0.451,
+
LY104 -0.237,
LY77 -0.487,
LY86 -0.430,
LY99 0.449,
LY98 -0.238,
LY107 0.423,
LY108 -0.443,
LY93 -0.261,
LY92 -0.373
NM_004795
13q12
KL
rs495392
C to A
1623
70
98
0.24
26
35
92%
-0.220 - LY10 0.146,
0.282
+
LY13 -0.200,
LY40 0.145,
LY60 0.282,
LY102 0.101,
LY74 -0.220,
LY91 -0.136
NM_004795
13q12
KL
rs499091
A to G
3586
56
56
0.25
19
19
86%
-0.472 - LY10 -0.127,
0.192
LY19 0.173,
LY26 -0.102,
LY40 -0.472,
LY42 0.157,
LY60 -0.283,
LY63 0.123,
+
LY06 0.121,
LY49 0.109
NM_004795
13q12
KL
rs2249358 A to G
32594
65
93
0.26
14
20
67%
-0.173 - LY34 0.453,
0.453
+
LY40 0.399,
LY42 0.131,
LY61 -0.173
NM_004795
13q12
KL
rs495764
A to T
9513
58
58
0.37
17
17
89%
-0.391 - LY27 0.101,
0.107
+
LY34 -0.252,
LY40 -0.391,
LY61 0.101,
LY46 0.107
NM_004795
13q12
KL
rs564481
C to T
44413
18
18
0.45
5
15
94%
-0.242 - LY95 0.354,
0.354
+
LY40 0.130,
LY83 -0.241
NM_004795
13q12
KL
NM_004795 G to C
37623
40
68
0.16
7
7
39%
.2 (1117)
NM_004795
13q12
KL
-0.052 - LY01 0.162
+
0.162
NM_004795 T to G
37568
68
96
0.09
2
9
53%
.2 (1062)
-0.311 - LY95 0.334,
0.334
+
LY83 -0.203,
LY108 -0.311
NM_004795
13q12
KL
rs648202
C to T
44893
72
100
0.26
23
26
96%
-0.395 - LY15 0.126,
0.264
LY26 0.264,
LY34 -0.395,
LY40 -0.374,
+
LY22 -0.175,
LY93 -0.224
NM_002257 19q13.3
KLK1
rs1054713 C to T
3540
73
100
0.34
31
44
98%
-0.205 - LY12 0.104,
0.144
+
LY20 0.125,
LY23 0.144,
LY34 -0.148,
LY05 0.105,
LY49 -0.140,
LY66 -0.205,
LY95 -0.202
NM_005582
5q12
LY64
rs2230520 G to C
12239
59
59
0.16
12
12
80%
-0.186 - LY01 -0.120,
0.125
+
LY13 -0.186,
LY16 -0.103,
LY18 0.125
NM_002402
7q32
MEST
rs1050582 C to G
13007
72
100
0.5
23
23
83%
-0.38 -
LY11 0.428,
0.50
LY14 0.424,
LY15 0.417,
LY55 0.466,
LY26 0.482,
LY28 0.254,
LY32 0.317,
LY56 -0.360,
LY41 0.386,
+
LY43 0.500,
LY60 0.300,
LY61 0.418,
LY01 0.472,
LY06 0.485,
LY08 0.409,
LY65 0.500,
LY48 0.329,
LY51 0.500,
LY71 0.495,
LY79 0.444,
LY102 0.500,
LY103 0.400,
NM_000247
6p21.3
MICA
rs1882
C to T
11541
69
94
0.4
31
46
100%
-0.186 - LY17 -0.128,
0.080
+
LY54 -0.163,
LY23 -0.186,
LY60 -0.156
NM_004554 14q11.2
NFATC4
rs2228232 T to C
8138
73
101
0.07
10
11
100%
-0.389 - LY16 -0.174,
0.041
LY54 -0.389,
LY28 -0.146,
LY05 -0.148,
LY72 -0.120,
LY94 -0.242
+
AF363458
2q37.3
PDCD1
AF363458( G to A
8448
73
101
0.31
27
43
100%
8448)
-0.227 - LY11 -0.140,
0.258
+
LY55 -0.227,
LY37 0.121,
LY60 0.108,
LY01 -0.162,
LY46 -0.115,
LY66 0.258,
LY88 0.190,
LY37 0.121,
LY96 -0.107,
LY98 -0.105
AF363458
2q37.3
PDCD1
AF363458( C to T
7101
61
89
0.17
13
15
100%
7101)
-0.326 - LY11 0.136,
0.153
+
LY21 0.153,
LY57 -0.260,
LY37 -0.247,
LY60 -0.326,
LY95 -0.172
NM_015068
7
PEG10
rs13073
C to T
4014
73
101
0.27
25
35
100%
-0.50 0.50
LY10 0.465,
LY14 -0.387,
LY19 -0.500,
LY25 0.438,
LY31 -0.460,
LY32 -0.455,
+
LY34 -0.500,
LY35 0.477,
LY58 -0.470,
LY37 -0.478,
LY43 0.500,
LY44 0.500,
LY63 -0.491,
LY02 -0.499,
LY06 0.573,
LY45 0.489,
LY46 0.500,
LY65 -0.500,
LY50 0.500,
LY66 -0.500,
LY71 -0.369,
LY72 0.492,
LY79 -0.488,
LY103 0.485,
LY87 -0.482,
LY81 0.490,
LY89 -0.500,
LY83 -0.468,
LY85 -0.500,
LY106 -0.390,
LY107 -0.407,
LY108 -0.447,
LY109 -0.464,
LY91 0.500,
LY92 0.500
NM_002659
19q13
PLAUR
rs399145
A to G
19218
72
99
0.15
21
27
100%
-0.418 - LY15 -0.418,
0.153
+
LY54 0.127,
LY25 0.110,
LY40 -0.149,
LY47 0.120,
LY89 -0.279,
LY100 -0.157,
LY99 0.153,
LY90 -0.130
NM_002659
19q13
PLAUR
rs2302524 A to G
6157
63
63
0.02
2
2
100%
-0.060 - NONE
NA
0.089
NM_003006
12q24
SELPLG
rs2228315 C to T
9672
63
63
0.21
18
18
100%
-0.116 - LY11 -0.107,
0.078
LY17 -0.102,
LY55 -0.116,
LY07 -0.106
+
SNP information on genes in which a single informative sample showed replicable allelic imbalances
NM_006411
6p21.3
AGPAT1
rs1269839 C to A
8913
56
56
0.03
3
3
100%
-0.047 - NONE
NA
0.049
NM_006411
6p21.3
AGPAT1
rs1061807 C to T
9005
59
59
0.13
10
10
90%
-0.114 - LY23 -0.114
+
0.056
NM_006889
3q21
CD86
rs1129055 G to A
41570
65
82
0.36
31
44
100%
-0.11 -
LY31 -0.1
+
0.069
NM_000078
16q21
CETP
rs5882
A to G
20336
72
100
0.42
32
45
94%
-0.143 - LY24 -0.143
+
0.072
NM_004480 14q24.3
FUT8
rs2229677 G to A 148909
55
55
0.24
20
20
100%
-0.093 - LY58 0.123
+
0.123
NM_000576
2q14
IL1B
rs1071676 C to G
6920
70
94
0.14
17
29
100%
-0.087 - LY47 0.241
+
0.241
NM_005541
2q36-
INPP5D
rs14243
T to C
391
58
84
0.2
17
18
100%
q37
NM_014753
10
-0.132 - LY26 -0.132
+
0.039
KIAA0187
rs787795
A to G
12832
73
96
0.18
24
24
100%
-0.105 - LY38 -0.105
+
0.059
NM_014753
10
KIAA0187
rs7133
A to C
46606
63
63
0.5
36
36
97%
-0.058 - NONE
NA
0.047
NM_005962
10q24-
MXI1
rs14401
C to T
59244
63
63
0.38
23
23
96%
q25
NM_001198
6q21-
-0.091 - LY12 0.131
+
0.131
PRDM1
rs811925
C to G
11178
68
96
0.23
20
38
97%
-0.059 - LY51 0.114
+
q22.1
NM_001198
6q21-
0.114
PRDM1
rs547057
T to C
15209
67
94
0.37
30
43
96%
q22.1
NM_003820 1p36.3p36.2
-0.108 - LY07 -0.108
-
0.054
TNFRSF14
rs2234156 C to T
349
62
62
0.47
19
19
86%
-0.092 - LY15 0.124
0.124
+
SNP information on genes in which no replicable allelic imbalances were detected
NM_005735 2q11.1-
ACTR1B
rs3475
G to A
7751
69
96
0.11
11
19
100%
q11.2
NM_005735 2q11.1-
ACTR1B
rs2290123 A to G
7894
63
63
0.06
6
6
100%
2p25
NONE
NA
-0.057 - NONE
NA
-0.07 0.078
ACTR1B
rs1042705 G to C
76581
15
38
0.43
8
18
100%
q11.2
NM_003183
NA
0.031
q11.2
NM_005735 2q11.1-
-0.047 - NONE
0.095
ADAM17
rs10063
T to C
66168
68
96
0.19
16
29
94%
-0.016 - NONE
NA
0.094
NM_001111 1q21.1-
ADAR
rs9616
T to A
24937
56
80
0.22
15
22
92%
q21.2
NM_001627
3q13.1
-0.033 - NONE
NA
0.037
ALCAM
rs579565
G to A
21610
72
97
0.28
22
35
100%
-0.068 - NONE
NA
0.045
NM_001627
3q13.1
ALCAM
rs1044243 C to T
21612
71
96
0.06
5
7
88%
-0.065 - NONE
NA
0.020
NM_015120
2p13
ALMS1
rs2017116 A to G 104218
60
60
0.15
11
11
79%
-0.097 - NONE
NA
0.042
NM_004048
15q21-
B2M
rs7151
G to C
6274
47
47
0.14
7
7
100%
q22.2
NM_004048
15q21-
NA
0.050
B2M
rs4780
T to C
6284
46
46
0.15
8
8
100%
q22.2
NM_000057 15q26.1
-0.072 - NONE
-0.019 - NONE
NA
0.032
BLM
rs389480
C to T
98239
48
68
0.46
18
28
73%
-0.106 - LY98 -0.106
-
0.068
NM_000057 15q26.1
BLM
rs376702
A to G 103899
57
57
0.31
12
12
48%
-0.042 - NONE
NA
0.090
NM_001748
1q41-
CAPN2
rs10961
A to G
62729
69
79
0.46
27
27
96%
q42
NM_001735
9q32-
16q12
NA
0.056
C5
rs17611
C to T
43337
61
61
0.39
21
21
100%
q34
NM_022162
-0.098 - NONE
-0.072 - NONE
NA
0.047
CARD15
rs2066842 G to A 153575
59
81
0.17
11
24
96%
-0.094 - NONE
NA
0.096
NM_006092
7p15-
CARD4
rs2906766 A to G
18691
62
98
0.366
33
44
98%
p14
NM_006092
7p15-
2q33-
CARD4
rs2075818 C to G
23884
62
62
0.322
26
26
100%
3p21.3
CASP10
NM_001230 A to T
34605
44
44
0.31
16
16
94%
.2 (1629)
CCR3
NM_001837 T to C
82
62
62
0.073
9
9
100%
CD36L1
rs5889
C to T
3531
62
62
0.09
4
4
80%
NA
-0.094 - NONE
NA
-0.038 - NONE
NA
0.032
CD36L1
rs5892
C to T
9995
63
63
0.05
6
6
100%
1
NM_004356 11p15.5
-0.014 - NONE
0.043
1
NM_005505 12q24.3
NA
0.025
(82)
NM_005505 12q24.3
-0.027 - NONE
0.075
q34
NM_001837
NA
0.047
p14
NM_001230
-0.067 - NONE
-0.047 - NONE
NA
0.081
CD81
rs1804493 C to T
19662
63
63
0.02
2
2
100%
-0.059 - LY24 0.10
0.10
-
NM_004356 11p15.5
CD81
rs14077
G to A
19343
56
56
0.19
15
15
100%
-0.047 - NONE
NA
0.019
NM_001255
1p34.1
CDC20
rs1051097 C to T
238
59
59
0.04
2
2
67%
-0.016 - NONE
NA
0.0004
NM_001255
1p34.1
CDC20
rs839763
T to C
1017
62
62
0.27
17
17
85%
-0.059 - NONE
NA
0.041
NM_000389
6p21.2
CDKN1A
rs1059234 T to C
7111
57
57
0.11
7
7
100%
-0.058 - NONE
NA
0.012
NM_003879
2q33-
CFLAR
q34
NM_003879
2q33-
NM_003879 C to T
13651
59
59
0.18
13
13
100%
(433)
CFLAR
rs1594
A to G
44732
66
94
0.44
33
47
92%
CHS1
rs11464
A to C
36656
61
61
0.14
10
10
91%
6p24.1
-
-0.102 - LY16 -0.102
-
0.074
CTSC
rs217086
C to T
25291
71
99
0.2
14
26
100%
-q14.3
NM_001955
-0.113 - LY59 -0.113
0.079
q42.2
NM_001814 11q14.1
NA
0.0342
q34
NM_000081 1q42.1-
-0.081 - NONE
-0.039 - NONE
NA
0.038
EDN1
rs5369
C to T
3730
73
101
0.1
12
21
100%
-0.091 - NONE
NA
0.078
NM_001961 19pter-
EEF2
rs2230560 T to C
1147
60
60
0.27
20
20
100%
q12
BC030507
13q13
-0.100 - LY10 -0.100
-
0.064
ELF1
rs7799
T to C 102620
46
46
0.4
15
15
100%
-0.055 - NONE
NA
0.043
NM_001981
1p32
EPS15
rs1065754 A to G 113043
63
63
0.2
12
12
92%
-0.095 - NONE
NA
0.044
NM_001981
1p32
EPS15
rs17567
A to G 158073
63
63
0.28
13
13
100%
-0.063 - NONE
NA
0.033
M13450
13q14.1
ESD
rs9778
G to A
21726
30
30
0.27
10
10
100%
-q14.2
NM_004214
11
-0.049 - NONE
NA
0.057
FIBP
rs641018
C to G
518
19
48
0.24
7
16
100%
-0.042 - NONE
NA
0.019
NM_021940
6
FLJ13159
rs9680
A to G
92983
62
62
0.16
8
8
67%
(SMAP1)
NM_024571
16
FLJ22940
-0.059 - NONE
NA
0.034
rs10266
C to G
4156
63
63
0.13
11
11
92%
-0.095 - NONE
NA
0.082
NM_000158
3p12.3
GBE1
rs846
G to A 217783
73
100
0.31
19
33
89%
-0.062 - LY49 0.115
-
0.115
NM_016362
3p26-
GHRL
rs2075356 A to G
3087
72
99
0.15
13
19
86%
p25
NM_000173 17pter-
-
0.108
GP1BA
rs2243100 G to A
3333
63
63
0.15
15
15
100%
p12
NM_000175 19q13.1
-0.045 - LY16 0.108
-0.099 - NONE
NA
0.053
GPI
rs1801015 A to G
12476
55
55
0.25
13
13
76%
-0.081 - NONE
NA
0.019
NM_002085 19p13.3
GPX4
rs713041
C to T
2650
58
58
0.46
25
25
100%
-0.088 - LY20 0.101
-
0.101
NM_000852
11q13
GSTP1
rs947894
A to G
1400
67
96
0.37
14
28
72%
-0.095 - NONE
0.089
NA
NM_000852
11q13
GSTP1
rs1799811 C to T
2290
63
63
0.04
5
5
100%
-0.034 - NONE
NA
0.032
NM_004131 14q11.2
GZMB
rs1126639 C to T
1852
58
58
0.04
4
4
80%
-0.087 - NONE
NA
0.053
NM_019052
6p21.3
HCR
rs3173365 T to A
14100
71
98
0.18
9
17
59%
-0.108 - LY34 -0.108
-
0.083
NM_000859 5q13.3-
HMGCR
rs12916
A to G
18134
58
58
0.39
19
19
61%
q14
NM_017526
1
-0.079 - NONE
NA
0.069
HSOBRGRP
rs7602
G to A
7968
72
100
0.22
21
27
93%
-0.096 - NONE
NA
0.045
NM_017526
1
HSOBRGRP
rs3185876 G to A
7998
72
96
0.2
22
28
97%
-0.096 - NONE
NA
0.089
NM_000201 19p13.3
ICAM1
rs5491
A to T
3762
63
63
0.09
9
9
100%
-p13.2
NM_000416
6q23-
IFNGR1
rs11914
A to C
20920
47
47
0.1
7
7
100%
6q26
-0.040 - NONE
NA
0.020
IFNGR2
rs1059293 T to C
34492
70
95
0.35
20
32
97%
1
NM_000876
NA
0.048
q24
NM_005534 21q22.1
-0.093 - NONE
-0.114 - LY51 -0.102,
0.007
IGF2R
rs629849
G to A 104279
59
59
0.1
11
11
92%
-
LY60 -0.114
-0.085 - NONE
NA
0.053
NM_000876
6q26
IGF2R
rs1803989 C to T 127351
58
58
0.19
11
11
92%
-0.038 - NONE
NA
0.0122
NM_000876
6q26
IGF2R
rs998075
G to A
78148
60
60
0.34
22
22
88%
-0.085 - NONE
NA
0.042
NM_001558
11q23
IL10RA
rs9610
T to C
17610
47
47
0.4
22
22
100%
-0.060 - NONE
NA
0.094
NM_002188
5q31
IL13
rs848
G to T
2636
69
96
0.35
22
30
88%
-0.092 - NONE
NA
0.099
NM_000585
4q31
IL15
rs10833
C to T
77953
70
96
0.24
17
28
85%
-0.073 - NONE
NA
0.064
NM_021798
16p11
IL21R
rs2285452 G to A
22266
62
62
0.35
22
22
100%
-0.035 - NONE
NA
0.031
NM_021798
16p11
IL21R
rs2239928 C to A
22570
60
60
0.36
22
22
100%
-0.086 - NONE
NA
0.020
NM_021798
16p11
IL21R
rs2096
C to G
23060
63
63
0.35
17
17
78%
-0.048 - NONE
NA
0.055
NM_000878 22q13.1
IL2RB
rs228953
G to A
14527
50
50
0.42
26
26
100%
-0.112 - LY17 -0.112
-
0.055
NM_000418 16p11.2
IL4R
rs1801275 A to G
33012
72
98
0.41
29
42
100%
-12.1
NM_000418 16p11.2
12
IL4R
rs1805010 A to G
14821
73
101
0.47
37
49
100%
5q31.1
-0.099 - NONE
NA
0.044
IRAK4
NM_016123 G to A
27536
63
63
0.18
15
15
100%
(1331)
NM_002198
NA
0.050
-12.1
NM_016123
-0.097 - NONE
IRF1
rs839
-0.065 - NONE
NA
0.024
A to G
7333
54
54
0.48
15
15
50%
-0.064 - NONE
0.076
NA
NM_000210
2q31.1
ITGA6
rs17664
G to A
76862
57
87
0.42
25
37
100%
-0.134 - LY22 -0.133,
0.103
-
LY27 -0.111,
LY42 0.103
NM_000211 21q22.3
ITGB2
rs684
G to A
36812
47
47
0.12
8
8
89%
-0.078 - LY46 0.103
-
0.103
NM_000211 21q22.3
ITGB2
rs6570
C to G
36861
47
47
0.12
5
5
100%
-0.040 - NONE
NA
0.021
NM_000215 19p13.1
JAK3
rs3008
G to A
17854
62
62
0.44
34
34
97%
-0.049 - NONE
NA
0.049
NM_014672
14
KIAA0391
rs7218
C to G 151287
63
63
0.17
13
13
100%
-0.050 - NONE
NA
0.038
NM_014672
14
KIAA0391
rs941653
A to G
762
63
63
0.1
13
13
100%
-0.044 - NONE
NA
0.046
NM_016270 19p13.1
KLF2
rs15336
C to A
2363
63
101
0.14
16
16
100%
3-
-0.059 - LY54 0.124
-
0.0124
p13.11
NM_000527 19p13.3
LDLR
rs5925
C to G
30750
63
63
0.29
19
19
95%
-0.057 - NONE
NA
0.046
NM_000595
6p21.3
LTA
rs1041981 C to A
692
63
63
0.38
27
27
90%
-0.028 - NONE
NA
0.026
NM_001315 6p21.3-
MAPK14
rs8510
C to T
82608
47
47
0.14
9
9
100%
p21.2
NM_021038
3q25
-0.038 - NONE
NA
0.091
MBNL
rs1801769 T to C
39478
73
97
0.24
23
34
92%
-0.074 - NONE
NA
0.056
NM_005370 19p13.1
MEL
rs1043346 C to A
21421
63
63
0.04
5
5
100%
-0.039 - NONE
NA
0.01
NM_000246
16p13
MHC2TA
rs4774
G to C
30822
57
93
0.2
16
30
94%
-0.091 - NONE
NA
0.041
NM_000246
16p13
MHC2TA
NM_000246 G to A
31744
53
76
0.12
10
19
95%
.1 (2559)
NM_000246
16p13
MHC2TA
-0.154 - LY108 -0.154
-
0.092
rs2229320 G to A
31717
65
89
0.22
16
23
92%
-0.156 - LY12 -0.133,
0.025
-
LY05 -0.156,
LY79 -0.129,
LY94 -0.114
NM_000246
16p13
MHC2TA
rs2228238 A to G
32878
71
98
0.37
33
50
98%
-0.159 - LY01 -0.101,
0.065
-
LY02 -0.159,
LY106 -0.100
NM_005956
14q24
MTHFD1
rs1950902 G to A
27288
62
88
0.23
23
29
97%
-0.039 - NONE
NA
0.044
NM_005956
14q24
MTHFD1
rs2281603 T to C
71005
53
80
0.25
19
29
94%
-0.085 - NONE
NA
0.056
NM_017567
2p12
NAGK
rs1043701 G to A
8942
63
63
0.13
14
14
93%
-0.107 - LY16 -0.107
-
0.054
NM_005969 11p15.5
NAP1L4
rs8505
G to C
47337
56
56
0.29
9
9
70%
-0.066 - NONE
NA
0.031
NM_000270 14q13.1
NP
rs1049564 G to A
3042
73
101
0.21
24
28
100%
-0.055 - NONE
NA
0.046
NM_000270 14q13.1
NP
rs1130650 C to T
3062
73
101
0.21
24
28
100%
NONE
NA
-0.061 - NONE
NA
-0.06 0.056
NM_000176
5q31
NR3C1
rs258813
G to A 106362
69
94
0.3
27
35
95%
0.029
NM_000176
5q31
NR3C1
rs6196
T to C 119562
69
96
0.15
13
15
79%
-0.046 - NONE
NA
0.055
NM_002541
7p14-
OGDH
rs12868
G to A
84419
71
99
0.16
17
22
85%
p13
NM_003998
4q24
-0.087 - NONE
NA
0.084
p105
rs1801
C to G
78500
73
101
0.32
36
53
100%
-0.050 - NONE
NA
0.020
NM_003998
4q24
p105
rs647424
G to A
87953
73
101
0.39
37
51
96%
-0.060 - NONE
NA
0.048
NM_003715
4q21.1
P115
rs324726
A to G 101616
63
63
0.37
23
23
96%
-0.052 - NONE
NA
0.033
NM_003715
4q21.1
P115
rs324689
A to G 109456
63
63
0.1
13
13
100%
-0.018 - NONE
NA
0.031
NM_022817
2q37.3
PER2
rs2304676 C to T
17179
58
58
0.06
5
5
71%
-0.051 - NONE
NA
0.077
NM_022817
2q37.3
PER2
rs934945
G to A
42040
60
60
0.22
16
16
100%
-0.049 - NONE
NA
0.059
NM_002634
17q21
PHB
rs6917
C to T
10700
70
98
0.09
12
16
100%
-0.062 - NONE
0.069
NA
NM_002634
17q21
PHB
rs1049620 G to A
10729
72
100
0.22
18
23
100%
-0.094 - NONE
NA
0.048
NM_002661 16q24.1
PLCG2
rs1143688 C to T 116553
73
101
0.38
31
43
100%
-0.055 - NONE
NA
0.058
NM_002661 16q24.1
PLCG2
rs1143686 A to G
75217
63
63
0.21
19
19
100%
-0.014 - NONE
NA
0.031
NM_002827 20q13.1
PTPN1
rs2282146 C to T
69277
69
97
0.32
9
21
55%
-q13.2
NM_002827 20q13.1
PTPN1
rs2230604 C to T
69394
70
97
0.1
9
14
93%
1q31-
PTPN1
rs718050
G to A
70040
63
89
0.41
27
38
97%
1p35.2
NA
-0.068 - NONE
NA
0.030
PTPRC
rs1058191 T to C
19080
63
63
0.03
4
4
100%
q32
NM_014676
-0.097 - NONE
0.084
-q13.2
NM_002838
-
0.038
-q13.2
NM_002827 20q13.1
-0.132 - LY58 -0.132
-0.004 - NONE
NA
0.015
PUM1
rs2275741 C to T 111728
62
62
0.4
31
31
100%
-0.049 - NONE
NA
0.039
NM_014676
1p35.2
PUM1
rs1803848 C to T 132900
59
59
0.12
7
7
70%
-0.025 - NONE
NA
0.028
NM_003721
19p12
RFXANK
rs1802498 C to G
9401
63
63
0.06
5
5
83%
-0.025 - NONE
NA
0.038
NM_021133
1q25
RNASEL
rs486907
G to A
1385
18
44
0.39
8
8
100%
-0.020 - NONE
NA
0.024
NM_021133
1q25
RNASEL
rs627928
G to T
4605
72
97
0.49
31
41
100%
-0.089 - NONE
NA
0.046
NM_005977 13q12.2
RNF6
rs301047
T to C
80285
71
100
0.15
21
24
100%
-0.053 - NONE
NA
0.047
NM_005977 13q12.2
RNF6
rs1830
T to C
9314
66
95
0.33
17
34
83%
-0.050 - NONE
NA
0.087
NM_005146 11q13.1
SART1
rs688862
C to T
4183
72
97
0.34
31
44
100%
-0.096 - NONE
NA
0.053
NM_005146 11q13.1
SART1
rs660118
G to C
5964
19
47
0.47
9
22
88%
-0.094 - NONE
NA
0.09
NM_005415
2q11-
SLC20A1
rs10758
A to G
6408
71
98
0.29
18
28
80%
q14
NM_003141 11p15.5
-0.097 - NONE
NA
0.064
SSA1
rs15120
C to G
8632
63
63
0.05
6
6
100%
-0.052 - NONE
NA
0.020
NM_003141 11p15.5
SSA1
rs926101
C to T
3676
68
96
0.17
11
20
77%
-0.085 - NONE
NA
0.072
NM_007315
2q32.2
STAT1
rs2066802 A to G
3739
63
63
0.1
13
13
100%
-0.063 - NONE
NA
0.0174
NM_007315
2q32.2
STAT1
rs11305
T to C
44376
63
63
0.07
8
8
89%
-0.021 - NONE
NA
0.040
NM_003153
12q13
STAT6
rs324015
C to T
14956
47
47
0.26
20
20
100%
-0.077 - NONE
NA
0.028
NM_021137
17q22q23
TNFAIP1
rs3093704 G to C
10470
63
63
0.18
9
9
70%
-0.026 - NONE
0.058
NA
NM_003842
8p22-
TNFRSF10B
rs1047266 G to A
57
63
63
0.08
8
8
100%
p21
NM_001066 1p36.3-
TNFRSF1B
rs1061631 G to A
41468
68
95
0.12
14
21
100%
-0.120 - LY24 -0.12,
0.050
TNFRSF1B
rs3397
T to C
40261
19
47
0.47
12
24
100%
p36.2
NM_001066 1p36.3-
NA
0.025
p36.2
NM_001066 1p36.3-
-0.064 - NONE
-
LY66 -0.104
-0.099 - NONE
NA
0.078
TNFRSF1B
rs1061624 A to G
40234
18
44
0.44
12
29
100%
p36.2
-0.347 - LY95 -0.134,
0.074
-
LY14 -0.173,
LY105 0.347, LY101
-0.175
NM_001243
1p36
TNFRSF8
ss1428806 G to A
56
56
0.35
23
23
85%
-0.129 - LY18 -0.103,
0.055
NM_001243
1p36
TNFRSF8
ss839357
C to T
45
45
0.14
6
6
67%
-
LY59 -0.129
-0.107 - LY58 -0.107
-
0.094
NM_001243
1p36
TNFRSF8
ss844491
T to C
54
54
0.25
25
25
100%
-0.048 - NONE
NA
0.048
NM_003811 19p13.3
TNFSF9
rs348389
C to T
4593
62
62
0.42
23
23
82%
-0.065 - NONE
NA
0.035
NM_003316 21q22.2
TTC3
rs9982
C to T 116591
62
62
0.4
21
21
91%
-0.097 - NONE
NA
0.044
NM_003355
11q13
UCP2
rs660339
G to A
4786
58
95
0.37
27
45
100%
-0.102 - LY02 -0.107
0.071
-
NM_007122
1q22-
USF1
rs3737787 C to T
3151
47
47
0.1
7
7
100%
q23
NM_006472
1q21.1
-0.061 - NONE
NA
0.099
VDUP1
rs7211
C to T
3039
47
47
0.15
8
8
100%
-0.041 - NONE
0.039
1) Some SNPs were selected from literature and are not included in the public SNP databases, in such cases the SNP is marked by
giving the sequence accession number and location of the SNP (in parentheses) within this sequence.
2) Major allele is reported first.
3) Distance of the marker SNP from the transcription start site in genomic DNA in bp.
4) Proportion of heterozygotes assayed for allelic imblance.
5) Range of deviation from the expected 50:50 allele ratio (values averaged over replicates) over all available cDNA datapoints,
the threshold for calling allelic imbalance is ±0.10. Positive and negative values signify direction of the deviation (relatively
overexpressed allele) in the following manner for each nucleotide change (listed from negative to positive): T(-) to C (+), A(-)
to G (+), A(-) to C (+), T(-) to G (+) , C(-) to G (+), T(-) to A (+).
6) Averaged allelic deviations shown. The sample definitions “LYXX” correspond the Coriell cell line numbers as shown in
Supplementary Table 2.
NA
7) The allelic imbalances fulfilling the replicability criteria (3 or more independent replicates showing consistent deviation
exceeding threshold) are marked by “+”; the cases where averaged allelic deviations exceeded threshold, but were not
replicable are marked by “-“; for the remainder of SNPs the replicability criteria is not applicable (“NA”).