chrom
stringclasses
12 values
pos
int64
36.1k
249M
ref
stringclasses
4 values
alt
stringclasses
4 values
label
bool
2 classes
subset
stringclasses
8 values
match_group
int64
0
2.16k
rsid
stringlengths
3
15
pip
float64
0
1
traits
stringclasses
279 values
MAF
float64
0
0.5
ld_score
float64
1.01
3.79k
consequence
stringclasses
13 values
consequence_cre
stringclasses
29 values
exon_closest_pc_gene_id
stringlengths
15
15
distance_exon_pc
int64
0
1.68M
exon_closest_nc_gene_id
stringlengths
15
15
distance_exon_nc
int64
0
507k
distance_exon
int64
0
507k
exon_closest_gene_id
stringlengths
15
15
consequence_final
stringclasses
28 values
tss_closest_pc_gene_id
stringlengths
15
15
distance_tss_pc
int64
0
1.69M
tss_closest_nc_gene_id
stringlengths
15
15
distance_tss_nc
int64
0
531k
distance_tss
int64
0
531k
tss_closest_gene_id
stringlengths
15
15
consequence_group
stringclasses
8 values
distance_tss_pc_bin
stringclasses
4 values
distance_exon_pc_bin
stringclasses
7 values
1
236,545,691
A
G
false
distal
8
rs2243959
0.004042
0.29706
451.81
intron_variant
dELS_flank
ENSG00000116977
775
ENSG00000116977
489
489
ENSG00000116977
dELS_flank
ENSG00000116977
19,619
ENSG00000116977
2,394
2,394
ENSG00000116977
distal
NA
NA
1
236,545,795
G
C
false
distal
8
rs2799406
0.003826
0.29701
451.83
intron_variant
dELS_flank
ENSG00000116977
879
ENSG00000116977
593
593
ENSG00000116977
dELS_flank
ENSG00000116977
19,723
ENSG00000116977
2,498
2,498
ENSG00000116977
distal
NA
NA
1
236,595,587
T
C
false
missense_variant
88
rs2794751
0.002767
0.2716
411.45
missense_variant
missense_variant
ENSG00000119285
0
ENSG00000119285
184
0
ENSG00000119285
missense_variant
ENSG00000119285
8,900
ENSG00000119285
4,032
4,032
ENSG00000119285
missense_variant
NA
NA
1
236,597,872
G
A
false
splicing
169
rs202233531
0.000043
0.000059
16.5
splice_donor_region_variant
splice_donor_region_variant
ENSG00000119285
5
ENSG00000119285
5
5
ENSG00000119285
splice_donor_region_variant
ENSG00000119285
6,615
ENSG00000119285
1,747
1,747
ENSG00000119285
splicing
NA
splicing:b1
1
236,603,568
G
A
false
tss_proximal
141
rs17585446
0.000162
0.039751
130.28
intron_variant
pELS
ENSG00000119285
191
ENSG00000119285
3,947
191
ENSG00000119285
tss_proximal
ENSG00000119285
919
ENSG00000119285
3,947
919
ENSG00000119285
tss_proximal
tss_prox:b1
tss_prox:b1
1
236,708,222
G
T
false
distal
32
rs12739634
0.000028
0.1057
132.94
intron_variant
dELS
ENSG00000077522
9,635
ENSG00000077522
1,602
1,602
ENSG00000077522
dELS
ENSG00000077522
21,532
ENSG00000077522
1,822
1,822
ENSG00000077522
distal
NA
NA
1
236,736,718
G
A
false
non_coding_transcript_exon_variant
118
rs7542508
0.000023
0.40537
167.12
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000077522
403
ENSG00000077522
0
0
ENSG00000077522
non_coding_transcript_exon_variant
ENSG00000077522
5,467
ENSG00000077522
7,630
5,467
ENSG00000077522
non_coding_transcript_exon_variant
NA
NA
1
236,795,215
C
T
false
tss_proximal
172
rs28372870
0.000232
0.0171
116.96
upstream_gene_variant
PLS
ENSG00000116984
76
ENSG00000116984
44
44
ENSG00000116984
tss_proximal
ENSG00000116984
76
ENSG00000116984
44
44
ENSG00000116984
tss_proximal
tss_prox:b0
tss_prox:b0
1
237,531,465
T
C
false
distal
148
rs12085148
0.000021
0.079539
93.361
intron_variant
intron_variant
ENSG00000198626
954
ENSG00000252290
23,574
954
ENSG00000198626
intron_variant
ENSG00000198626
120,023
ENSG00000252290
23,705
23,705
ENSG00000252290
distal
NA
NA
1
237,537,091
G
C
false
distal
148
rs77131668
0.000009
0.054886
67.997
intron_variant
intron_variant
ENSG00000198626
6,580
ENSG00000252290
17,948
6,580
ENSG00000198626
intron_variant
ENSG00000198626
114,397
ENSG00000252290
18,079
18,079
ENSG00000252290
distal
NA
NA
1
237,537,268
G
A
false
distal
148
rs12145423
0.000009
0.055053
67.739
intron_variant
intron_variant
ENSG00000198626
6,757
ENSG00000252290
17,771
6,757
ENSG00000198626
intron_variant
ENSG00000198626
114,220
ENSG00000252290
17,902
17,902
ENSG00000252290
distal
NA
NA
1
237,554,211
A
T
false
tss_proximal
178
rs2805460
0.000023
0.03661
92.706
intron_variant
intron_variant
ENSG00000198626
3,519
ENSG00000252290
828
828
ENSG00000252290
tss_proximal
ENSG00000198626
97,277
ENSG00000252290
959
959
ENSG00000252290
tss_proximal
tss_prox:b2
tss_prox:b2
1
237,799,343
C
T
false
tss_proximal
178
rs73103993
0.000002
0.029231
31.596
intron_variant
CA-H3K4me3_flank
ENSG00000198626
1,172
ENSG00000198626
685
685
ENSG00000198626
tss_proximal
ENSG00000198626
89,811
ENSG00000198626
685
685
ENSG00000198626
tss_proximal
tss_prox:b2
tss_prox:b2
1
238,379,248
G
A
false
distal
46
rs12077855
0.00011
0.42747
59.091
intron_variant
dELS
ENSG00000116996
488,325
ENSG00000234464
25,232
25,232
ENSG00000234464
dELS
ENSG00000116996
488,325
ENSG00000252371
53,459
53,459
ENSG00000252371
distal
NA
NA
1
239,917,672
T
C
false
tss_proximal
178
rs116161396
0.000031
0.033412
18.46
upstream_gene_variant
TF
ENSG00000133019
2,219
ENSG00000231979
716
716
ENSG00000231979
tss_proximal
ENSG00000133019
91,597
ENSG00000231979
716
716
ENSG00000231979
tss_proximal
tss_prox:b2
tss_prox:b2
1
239,941,471
C
A
false
distal
189
rs72760782
0.00004
0.01577
14.068
intergenic_variant
CA-H3K4me3
ENSG00000133019
26,018
ENSG00000231979
24,515
24,515
ENSG00000231979
CA-H3K4me3
ENSG00000155816
72,876
ENSG00000231979
24,515
24,515
ENSG00000231979
distal
NA
NA
1
239,941,553
G
A
true
distal
189
rs34303428
0.991315
AFib
0.003135
6.1231
intergenic_variant
CA-H3K4me3
ENSG00000133019
26,100
ENSG00000231979
24,597
24,597
ENSG00000231979
CA-H3K4me3
ENSG00000155816
72,794
ENSG00000231979
24,597
24,597
ENSG00000231979
distal
NA
NA
1
240,004,574
A
T
false
distal
154
rs7512443
0.000057
0.38263
177.65
intergenic_variant
TF
ENSG00000155816
9,773
ENSG00000287102
2,949
2,949
ENSG00000287102
TF
ENSG00000155816
9,773
ENSG00000287102
2,949
2,949
ENSG00000287102
distal
NA
NA
1
240,012,025
T
G
false
tss_proximal
181
rs6684048
0.000034
0.18506
74.592
upstream_gene_variant
TF_flank
ENSG00000155816
2,322
ENSG00000217327
620
620
ENSG00000217327
tss_proximal
ENSG00000155816
2,322
ENSG00000217327
620
620
ENSG00000217327
tss_proximal
tss_prox:b2
tss_prox:b2
1
240,117,566
C
A
false
distal
62
rs6693139
0.000044
0.3934
59.204
intron_variant
dELS
ENSG00000155816
5,560
ENSG00000155816
5,566
5,560
ENSG00000155816
dELS
ENSG00000155816
5,560
ENSG00000155816
5,566
5,560
ENSG00000155816
distal
NA
NA
1
240,151,598
C
T
false
distal
16
rs181584710
0.000075
0.002308
7.3997
intron_variant
dELS_flank
ENSG00000155816
26,322
ENSG00000202041
3,052
3,052
ENSG00000202041
dELS_flank
ENSG00000155816
28,415
ENSG00000202041
3,173
3,173
ENSG00000202041
distal
NA
NA
1
240,207,685
C
T
false
missense_variant
103
rs111896385
0.000047
0.17667
78.369
missense_variant
missense_variant
ENSG00000155816
0
ENSG00000155816
891
0
ENSG00000155816
missense_variant
ENSG00000155816
880
ENSG00000155816
891
880
ENSG00000155816
missense_variant
NA
NA
1
240,339,731
C
A
false
tss_proximal
179
rs12406544
0.000122
0.13577
100.57
intron_variant
intron_variant
ENSG00000155816
5,501
ENSG00000155816
819
819
ENSG00000155816
tss_proximal
ENSG00000155816
94,470
ENSG00000155816
819
819
ENSG00000155816
tss_proximal
tss_prox:b2
tss_prox:b2
1
240,340,300
G
C
false
tss_proximal
179
rs72766297
0.000132
0.13566
100.5
intron_variant
intron_variant
ENSG00000155816
6,070
ENSG00000155816
250
250
ENSG00000155816
tss_proximal
ENSG00000155816
95,039
ENSG00000155816
250
250
ENSG00000155816
tss_proximal
tss_prox:b2
tss_prox:b2
1
240,423,395
C
T
true
distal
71
rs1414660
0.99992
eBMD
0.19234
30.213
intron_variant
dELS
ENSG00000155816
14,665
ENSG00000155816
14,665
14,665
ENSG00000155816
dELS
ENSG00000155816
178,134
ENSG00000233519
22,271
22,271
ENSG00000233519
distal
NA
NA
1
240,493,250
G
C
true
missense_variant
112
rs142343894
1
eBMD
0.003679
2.2892
missense_variant
missense_variant
ENSG00000180875
0
ENSG00000155816
18,080
0
ENSG00000180875
missense_variant
ENSG00000180875
118,904
ENSG00000155816
21,151
21,151
ENSG00000155816
missense_variant
NA
NA
1
241,331,204
C
T
false
distal
47
rs114682445
0.000096
0.007541
72.469
intron_variant
dELS
ENSG00000182901
15,568
ENSG00000182901
22,734
15,568
ENSG00000182901
dELS
ENSG00000182901
24,571
ENSG00000224348
25,321
24,571
ENSG00000182901
distal
NA
NA
1
241,331,488
T
C
false
distal
47
rs114891880
0.000108
0.007531
72.689
intron_variant
dELS
ENSG00000182901
15,852
ENSG00000182901
22,450
15,852
ENSG00000182901
dELS
ENSG00000182901
24,287
ENSG00000224348
25,605
24,287
ENSG00000182901
distal
NA
NA
1
241,356,651
C
A
false
5_prime_UTR_variant
124
rs6667683
0.000052
0.11554
30.185
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000182901
0
ENSG00000182901
247
0
ENSG00000182901
5_prime_UTR_variant
ENSG00000182901
2
ENSG00000286496
691
2
ENSG00000182901
5_prime_UTR_variant
NA
NA
1
241,413,757
G
A
false
non_coding_transcript_exon_variant
119
rs67637146
0.00004
0.053589
41.915
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000182901
56,382
ENSG00000287516
0
0
ENSG00000287516
non_coding_transcript_exon_variant
ENSG00000182901
56,382
ENSG00000287516
6
6
ENSG00000287516
non_coding_transcript_exon_variant
NA
NA
1
241,438,849
C
A
false
distal
59
rs61825595
0.000038
0.088725
35.224
intron_variant
dELS
ENSG00000091483
58,753
ENSG00000287516
2,326
2,326
ENSG00000287516
dELS
ENSG00000091483
80,905
ENSG00000287516
9,052
9,052
ENSG00000287516
distal
NA
NA
1
241,502,210
A
G
false
non_coding_transcript_exon_variant
118
rs2185626
0.000169
0.40234
100.31
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000091483
232
ENSG00000091483
0
0
ENSG00000091483
non_coding_transcript_exon_variant
ENSG00000091483
17,544
ENSG00000091483
8,344
8,344
ENSG00000091483
non_coding_transcript_exon_variant
NA
NA
1
241,687,549
A
G
false
missense_variant
76
rs74605173
0.000041
0.00024
5.9795
missense_variant
missense_variant
ENSG00000162843
0
ENSG00000162843
0
0
ENSG00000162843
missense_variant
ENSG00000162843
3,968
ENSG00000054277
10,172
3,968
ENSG00000162843
missense_variant
NA
NA
1
241,958,238
G
A
false
missense_variant
115
rs56335758
0.000034
0.36551
121.23
missense_variant
missense_variant
ENSG00000196289
0
ENSG00000213026
34,946
0
ENSG00000196289
missense_variant
ENSG00000196289
470
ENSG00000213026
34,946
470
ENSG00000196289
missense_variant
NA
NA
1
241,958,494
G
T
false
missense_variant
115
rs3851304
0.000036
0.36291
121.03
missense_variant
missense_variant
ENSG00000196289
0
ENSG00000213026
34,690
0
ENSG00000196289
missense_variant
ENSG00000196289
726
ENSG00000213026
34,690
726
ENSG00000196289
missense_variant
NA
NA
1
241,988,521
A
G
false
distal
38
rs61846294
0.000036
0.49511
88.588
intergenic_variant
dELS
ENSG00000197769
6,968
ENSG00000213026
4,663
4,663
ENSG00000213026
dELS
ENSG00000197769
10,576
ENSG00000213026
4,663
4,663
ENSG00000213026
distal
NA
NA
1
242,067,052
C
A
false
distal
160
rs4375252
0.000086
0.4411
66.821
intergenic_variant
intergenic_variant
ENSG00000180287
15,933
ENSG00000277099
4,456
4,456
ENSG00000277099
intergenic_variant
ENSG00000197769
67,953
ENSG00000277099
4,456
4,456
ENSG00000277099
distal
NA
NA
1
242,067,243
A
G
false
distal
160
rs10926615
0.00008
0.43926
66.306
intergenic_variant
intergenic_variant
ENSG00000180287
15,742
ENSG00000277099
4,647
4,647
ENSG00000277099
intergenic_variant
ENSG00000197769
68,144
ENSG00000277099
4,647
4,647
ENSG00000277099
distal
NA
NA
1
242,069,997
T
A
false
distal
160
rs9428912
0.000124
0.45512
68.658
intergenic_variant
intergenic_variant
ENSG00000180287
12,988
ENSG00000277099
7,401
7,401
ENSG00000277099
intergenic_variant
ENSG00000197769
70,898
ENSG00000277099
7,401
7,401
ENSG00000277099
distal
NA
NA
1
242,070,281
A
G
false
distal
160
rs28718783
0.000131
0.45518
68.669
intergenic_variant
intergenic_variant
ENSG00000180287
12,704
ENSG00000277099
7,685
7,685
ENSG00000277099
intergenic_variant
ENSG00000197769
71,182
ENSG00000277099
7,685
7,685
ENSG00000277099
distal
NA
NA
1
242,325,558
C
T
false
distal
148
rs10926686
0.000444
0.09396
185.14
intron_variant
intron_variant
ENSG00000180287
22,547
ENSG00000226750
19,999
19,999
ENSG00000226750
intron_variant
ENSG00000180287
123,866
ENSG00000226750
19,999
19,999
ENSG00000226750
distal
NA
NA
1
242,326,019
T
C
false
distal
148
rs10803036
0.000423
0.09388
185.22
intron_variant
intron_variant
ENSG00000180287
22,086
ENSG00000226750
19,538
19,538
ENSG00000226750
intron_variant
ENSG00000180287
123,405
ENSG00000226750
19,538
19,538
ENSG00000226750
distal
NA
NA
1
242,328,287
A
C
false
distal
148
rs12143296
0.007715
0.087336
187.42
intron_variant
intron_variant
ENSG00000180287
19,818
ENSG00000226750
17,270
17,270
ENSG00000226750
intron_variant
ENSG00000180287
121,137
ENSG00000226750
17,270
17,270
ENSG00000226750
distal
NA
NA
1
242,346,533
A
G
false
tss_proximal
179
rs4658808
0.000246
0.15013
140.63
intron_variant
CA
ENSG00000180287
1,572
ENSG00000226750
814
814
ENSG00000226750
tss_proximal
ENSG00000180287
102,891
ENSG00000226750
974
974
ENSG00000226750
tss_proximal
tss_prox:b2
tss_prox:b2
1
243,163,528
T
C
false
tss_proximal
137
rs142298533
0.004321
0.023001
27.022
intron_variant
intron_variant
ENSG00000143702
187
ENSG00000232085
1,109
187
ENSG00000143702
tss_proximal
ENSG00000143702
187
ENSG00000232085
1,109
187
ENSG00000143702
tss_proximal
tss_prox:b1
tss_prox:b1
1
243,340,806
A
G
false
distal
3
rs2256126
0.001483
0.2902
190.65
intron_variant
dELS_flank
ENSG00000054282
232
ENSG00000054282
232
232
ENSG00000054282
dELS_flank
ENSG00000054282
54,422
ENSG00000054282
2,052
2,052
ENSG00000054282
distal
NA
NA
1
243,439,830
A
G
false
distal
71
rs6685276
0.000055
0.16192
148.47
intron_variant
dELS
ENSG00000054282
13,271
ENSG00000054282
13,271
13,271
ENSG00000054282
dELS
ENSG00000054282
153,446
ENSG00000054282
21,812
21,812
ENSG00000054282
distal
NA
NA
1
243,440,572
T
C
false
distal
71
rs11809721
0.000055
0.16202
148.64
intron_variant
dELS
ENSG00000054282
14,013
ENSG00000054282
14,013
14,013
ENSG00000054282
dELS
ENSG00000054282
154,188
ENSG00000054282
22,554
22,554
ENSG00000054282
distal
NA
NA
1
243,905,708
A
G
false
distal
161
rs11584607
0.000172
0.37343
96.998
intergenic_variant
intergenic_variant
ENSG00000117020
54,628
ENSG00000226828
11,693
11,693
ENSG00000226828
intergenic_variant
ENSG00000117020
54,628
ENSG00000226828
11,693
11,693
ENSG00000226828
distal
NA
NA
1
244,326,174
A
G
false
tss_proximal
176
rs616865
0.000052
0.46535
36.105
upstream_gene_variant
pELS_flank
ENSG00000173728
26,460
ENSG00000289439
994
994
ENSG00000289439
tss_proximal
ENSG00000173728
26,460
ENSG00000289439
994
994
ENSG00000289439
tss_proximal
tss_prox:b2
tss_prox:b2
1
244,326,176
G
A
false
tss_proximal
176
rs616864
0.000061
0.46553
36.005
upstream_gene_variant
pELS_flank
ENSG00000173728
26,458
ENSG00000289439
996
996
ENSG00000289439
tss_proximal
ENSG00000173728
26,458
ENSG00000289439
996
996
ENSG00000289439
tss_proximal
tss_prox:b2
tss_prox:b2
1
244,369,576
A
G
false
distal
42
rs3101458
0.000215
0.18684
28.309
intron_variant
dELS
ENSG00000173728
4,819
ENSG00000173728
4,819
4,819
ENSG00000173728
dELS
ENSG00000173728
16,940
ENSG00000173728
8,935
8,935
ENSG00000173728
distal
NA
NA
1
244,369,912
G
A
false
distal
42
rs3101457
0.000229
0.18811
28.065
intron_variant
dELS
ENSG00000173728
5,155
ENSG00000173728
5,155
5,155
ENSG00000173728
dELS
ENSG00000173728
17,276
ENSG00000173728
8,599
8,599
ENSG00000173728
distal
NA
NA
1
244,371,013
C
T
false
distal
33
rs10927222
0.000226
0.22152
36.921
intron_variant
dELS
ENSG00000173728
4,358
ENSG00000240963
4,086
4,086
ENSG00000240963
dELS
ENSG00000173728
18,377
ENSG00000173728
7,498
7,498
ENSG00000173728
distal
NA
NA
1
244,455,224
C
A
false
tss_proximal
181
rs3006005
0.000804
0.18221
56.188
intron_variant
dELS
ENSG00000035687
3,314
ENSG00000179397
610
610
ENSG00000179397
tss_proximal
ENSG00000035687
3,314
ENSG00000179397
846
846
ENSG00000179397
tss_proximal
tss_prox:b2
tss_prox:b2
1
244,895,624
C
T
false
distal
158
rs185317777
0.000037
0.00215
3.5969
intergenic_variant
intergenic_variant
ENSG00000153187
31,063
ENSG00000273175
30,328
30,328
ENSG00000273175
intergenic_variant
ENSG00000153187
31,063
ENSG00000153187
31,085
31,063
ENSG00000153187
distal
NA
NA
1
244,895,840
A
G
false
distal
158
rs539312558
0.000035
0.004216
24.392
intergenic_variant
intergenic_variant
ENSG00000153187
31,279
ENSG00000273175
30,544
30,544
ENSG00000273175
intergenic_variant
ENSG00000153187
31,279
ENSG00000153187
31,301
31,279
ENSG00000153187
distal
NA
NA
1
244,968,145
A
T
false
distal
163
rs10927360
0.004301
0.42527
158.17
intergenic_variant
pELS_flank
ENSG00000203666
1,536
ENSG00000272195
1,204
1,204
ENSG00000272195
pELS_flank
ENSG00000203666
1,536
ENSG00000203666
1,559
1,536
ENSG00000203666
distal
NA
NA
1
245,083,878
G
A
false
tss_proximal
190
rs10754849
0.000073
0.49098
152.88
intron_variant
CA_flank
ENSG00000203666
17
ENSG00000203666
46
17
ENSG00000203666
tss_proximal
ENSG00000203666
421
ENSG00000203666
23,300
421
ENSG00000203666
tss_proximal
tss_prox:b1
tss_prox:b0
1
245,086,447
A
G
false
distal
37
rs74152864
0.000036
0.070349
23.269
intron_variant
dELS
ENSG00000203666
285
ENSG00000203666
797
285
ENSG00000203666
dELS
ENSG00000203666
2,990
ENSG00000203666
20,731
2,990
ENSG00000203666
distal
NA
NA
1
246,116,573
T
C
false
distal
59
rs12092055
0.000027
0.076906
271.1
intron_variant
dELS
ENSG00000185420
70,169
ENSG00000226876
2,706
2,706
ENSG00000226876
dELS
ENSG00000185420
77,153
ENSG00000226876
7,935
7,935
ENSG00000226876
distal
NA
NA
1
246,116,576
A
T
false
distal
59
rs12096848
0.000027
0.076905
271.1
intron_variant
dELS
ENSG00000185420
70,166
ENSG00000226876
2,709
2,709
ENSG00000226876
dELS
ENSG00000185420
77,150
ENSG00000226876
7,938
7,938
ENSG00000226876
distal
NA
NA
1
246,117,312
A
G
false
distal
59
rs7513243
0.000027
0.076905
271.1
intron_variant
dELS
ENSG00000185420
69,430
ENSG00000226876
3,445
3,445
ENSG00000226876
dELS
ENSG00000185420
76,414
ENSG00000226876
8,674
8,674
ENSG00000226876
distal
NA
NA
1
246,117,474
C
G
false
distal
59
rs34539883
0.000065
0.070025
267.59
intron_variant
dELS
ENSG00000185420
69,268
ENSG00000226876
3,607
3,607
ENSG00000226876
dELS
ENSG00000185420
76,252
ENSG00000226876
8,836
8,836
ENSG00000226876
distal
NA
NA
1
246,179,280
T
C
false
tss_proximal
175
rs72774414
0.000137
0.046987
111.1
intron_variant
pELS_flank
ENSG00000185420
7,462
ENSG00000225222
75
75
ENSG00000225222
tss_proximal
ENSG00000185420
14,446
ENSG00000225222
501
501
ENSG00000225222
tss_proximal
tss_prox:b2
tss_prox:b2
1
246,183,570
G
A
false
distal
18
rs12568157
0.000015
0.00887
153.26
intron_variant
dELS_flank
ENSG00000185420
3,172
ENSG00000225222
4,365
3,172
ENSG00000185420
dELS_flank
ENSG00000185420
10,156
ENSG00000225222
4,791
4,791
ENSG00000225222
distal
NA
NA
1
246,193,509
G
A
false
tss_proximal
141
rs114113183
0.000044
0.037373
78.802
intron_variant
dELS_flank
ENSG00000185420
165
ENSG00000202184
4,390
165
ENSG00000185420
tss_proximal
ENSG00000185420
217
ENSG00000202184
4,390
217
ENSG00000185420
tss_proximal
tss_prox:b1
tss_prox:b1
1
246,591,822
T
C
false
missense_variant
89
rs6702823
0.000071
0.09694
86.6
missense_variant
missense_variant
ENSG00000162852
0
ENSG00000162852
0
0
ENSG00000162852
missense_variant
ENSG00000162852
25,307
ENSG00000225300
14,050
14,050
ENSG00000225300
missense_variant
NA
NA
1
246,634,123
A
G
false
non_coding_transcript_exon_variant
122
rs116240447
0.000415
0.011658
122.15
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000162852
112
ENSG00000162852
0
0
ENSG00000162852
non_coding_transcript_exon_variant
ENSG00000162852
67,608
ENSG00000228955
1,644
1,644
ENSG00000228955
non_coding_transcript_exon_variant
NA
NA
1
246,916,339
T
C
false
missense_variant
90
rs148019871
0.000015
0.000072
93.136
missense_variant
missense_variant
ENSG00000153207
0
ENSG00000153207
16,858
0
ENSG00000153207
missense_variant
ENSG00000153207
15,023
ENSG00000153207
16,858
15,023
ENSG00000153207
missense_variant
NA
NA
1
246,935,285
C
T
false
distal
41
rs4971278
0.000034
0.37292
144.22
intergenic_variant
dELS
ENSG00000153207
3,336
ENSG00000135747
10,261
3,336
ENSG00000153207
dELS
ENSG00000153207
3,336
ENSG00000153207
35,804
3,336
ENSG00000153207
distal
NA
NA
1
246,988,185
C
T
false
missense_variant
84
rs55762230
0.000173
0.029198
132.98
missense_variant
missense_variant
ENSG00000197472
0
ENSG00000197472
0
0
ENSG00000197472
missense_variant
ENSG00000197472
19,871
ENSG00000197472
19,813
19,813
ENSG00000197472
missense_variant
NA
NA
1
247,078,334
C
T
false
tss_proximal
144
rs6689229
0.000149
0.28603
237.18
intron_variant
pELS
ENSG00000277462
259
ENSG00000135747
259
259
ENSG00000277462
tss_proximal
ENSG00000277462
476
ENSG00000135747
401
401
ENSG00000135747
tss_proximal
tss_prox:b1
tss_prox:b1
1
247,103,967
C
T
false
missense_variant
87
rs61730460
0.000041
0.021972
42.479
missense_variant
missense_variant
ENSG00000188295
0
ENSG00000286747
1,437
0
ENSG00000188295
missense_variant
ENSG00000188295
310
ENSG00000286747
1,437
310
ENSG00000188295
missense_variant
NA
NA
1
247,103,972
C
A
false
missense_variant
105
rs4925692
0.000061
0.33379
152.41
missense_variant
missense_variant
ENSG00000188295
0
ENSG00000286747
1,432
0
ENSG00000188295
missense_variant
ENSG00000188295
305
ENSG00000286747
1,432
305
ENSG00000188295
missense_variant
NA
NA
1
247,150,278
C
T
false
tss_proximal
175
rs6663100
0.000039
0.049068
127.14
intron_variant
intron_variant
ENSG00000196418
4,710
ENSG00000196418
327
327
ENSG00000196418
tss_proximal
ENSG00000196418
21,723
ENSG00000196418
327
327
ENSG00000196418
tss_proximal
tss_prox:b2
tss_prox:b2
1
247,213,474
T
C
false
distal
50
rs60050650
0.00041
0.26855
183.38
intron_variant
dELS
ENSG00000196418
41,453
ENSG00000232347
1,081
1,081
ENSG00000232347
dELS
ENSG00000196418
41,453
ENSG00000227671
2,617
2,617
ENSG00000227671
distal
NA
NA
1
247,356,711
A
G
false
distal
22
rs116657758
0.000039
0.003352
13.654
intron_variant
dELS_flank
ENSG00000162714
24,843
ENSG00000289234
1,062
1,062
ENSG00000289234
dELS_flank
ENSG00000162714
24,843
ENSG00000289234
1,144
1,144
ENSG00000289234
distal
NA
NA
1
247,356,794
A
G
false
distal
22
rs78711633
0.00009
0.003897
23.944
intron_variant
dELS_flank
ENSG00000162714
24,926
ENSG00000289234
979
979
ENSG00000289234
dELS_flank
ENSG00000162714
24,926
ENSG00000289234
1,061
1,061
ENSG00000289234
distal
NA
NA
1
247,390,737
C
T
false
tss_proximal
176
rs10802493
0.001118
0.46395
90.443
intron_variant
pELS
ENSG00000162711
25,418
ENSG00000289234
388
388
ENSG00000289234
tss_proximal
ENSG00000162711
25,418
ENSG00000289234
493
493
ENSG00000289234
tss_proximal
tss_prox:b2
tss_prox:b2
1
247,390,952
C
A
false
tss_proximal
176
rs10925007
0.000814
0.46604
90.161
intron_variant
PLS_flank
ENSG00000162711
25,203
ENSG00000289234
603
603
ENSG00000289234
tss_proximal
ENSG00000162711
25,203
ENSG00000289234
708
708
ENSG00000289234
tss_proximal
tss_prox:b2
tss_prox:b2
1
247,433,225
G
A
false
distal
24
rs7516771
0.000803
0.09636
39.47
intron_variant
dELS_flank
ENSG00000162711
877
ENSG00000289728
877
877
ENSG00000162711
dELS_flank
ENSG00000162711
14,494
ENSG00000162711
10,681
10,681
ENSG00000162711
distal
NA
NA
1
247,433,652
G
A
true
distal
24
rs61841185
0.999235
Neutro
0.09974
41.836
intron_variant
dELS_flank
ENSG00000162711
450
ENSG00000289728
450
450
ENSG00000162711
dELS_flank
ENSG00000162711
14,921
ENSG00000162711
10,254
10,254
ENSG00000162711
distal
NA
NA
1
247,444,671
C
T
true
missense_variant
113
rs139814109
0.999965
CRP
0.000669
2.8069
missense_variant
missense_variant
ENSG00000162711
0
ENSG00000162711
0
0
ENSG00000162711
missense_variant
ENSG00000177535
13,432
ENSG00000162711
763
763
ENSG00000162711
missense_variant
NA
NA
1
247,532,125
C
G
false
missense_variant
93
rs34220133
0.000056
0.1629
75.534
missense_variant
missense_variant
ENSG00000196242
0
ENSG00000196242
1,320
0
ENSG00000196242
missense_variant
ENSG00000196242
4,314
ENSG00000196242
1,320
1,320
ENSG00000196242
missense_variant
NA
NA
1
247,549,001
T
C
true
tss_proximal
190
rs41315846
1
Plt
0.47579
50.515
intron_variant
PLS
ENSG00000169224
43
ENSG00000169224
43
43
ENSG00000169224
tss_proximal
ENSG00000169224
132
ENSG00000196242
18,196
132
ENSG00000169224
tss_proximal
tss_prox:b1
tss_prox:b0
1
247,606,450
A
G
false
missense_variant
101
rs61730407
0.000151
0.42935
90.092
missense_variant
missense_variant
ENSG00000177476
0
ENSG00000283369
675
0
ENSG00000177476
missense_variant
ENSG00000177476
863
ENSG00000283369
750
750
ENSG00000283369
missense_variant
NA
NA
1
247,679,779
A
T
false
tss_proximal
173
rs76832582
0.000015
0.042368
84.207
intron_variant
pELS
ENSG00000197437
39
ENSG00000230411
11,937
39
ENSG00000197437
tss_proximal
ENSG00000197437
39
ENSG00000230411
12,891
39
ENSG00000197437
tss_proximal
tss_prox:b0
tss_prox:b0
1
247,712,673
A
G
false
missense_variant
83
rs61730470
0.003742
0.089218
212.6
missense_variant
missense_variant
ENSG00000169214
0
ENSG00000169214
239
0
ENSG00000169214
missense_variant
ENSG00000169214
3,972
ENSG00000169214
3,972
3,972
ENSG00000169214
missense_variant
NA
NA
1
247,723,346
G
A
false
missense_variant
82
rs142212925
0.000425
0.01821
72.64
missense_variant
missense_variant
ENSG00000241128
0
ENSG00000241128
6
0
ENSG00000241128
missense_variant
ENSG00000239395
417
ENSG00000241128
414
414
ENSG00000241128
missense_variant
NA
NA
1
247,826,839
C
T
false
tss_proximal
181
rs12133258
0.000041
0.184
143.42
upstream_gene_variant
upstream_gene_variant
ENSG00000196772
2,719
ENSG00000232908
646
646
ENSG00000232908
tss_proximal
ENSG00000196772
2,719
ENSG00000232908
646
646
ENSG00000232908
tss_proximal
tss_prox:b2
tss_prox:b2
1
247,826,853
C
G
false
tss_proximal
181
rs12133260
0.000042
0.18398
143.41
upstream_gene_variant
upstream_gene_variant
ENSG00000196772
2,733
ENSG00000232908
632
632
ENSG00000232908
tss_proximal
ENSG00000196772
2,733
ENSG00000232908
632
632
ENSG00000232908
tss_proximal
tss_prox:b2
tss_prox:b2
1
247,826,894
A
C
false
tss_proximal
181
rs12134766
0.000042
0.18393
143.39
upstream_gene_variant
upstream_gene_variant
ENSG00000196772
2,774
ENSG00000232908
591
591
ENSG00000232908
tss_proximal
ENSG00000196772
2,774
ENSG00000232908
591
591
ENSG00000232908
tss_proximal
tss_prox:b2
tss_prox:b2
1
247,855,282
G
C
false
distal
150
rs75211695
0.000089
0.032158
47.991
intergenic_variant
pELS
ENSG00000162722
1,904
ENSG00000230576
20,993
1,904
ENSG00000162722
pELS
ENSG00000162722
1,904
ENSG00000230576
20,993
1,904
ENSG00000162722
distal
NA
NA
1
247,857,254
G
C
true
missense_variant
114
rs11204523
0.94354
HbA1c
0.23985
126.19
missense_variant
missense_variant
ENSG00000162722
0
ENSG00000230576
22,965
0
ENSG00000162722
missense_variant
ENSG00000162722
66
ENSG00000230576
22,965
66
ENSG00000162722
missense_variant
NA
NA
1
247,876,149
C
T
true
missense_variant
115
rs3811444
1
Hb,LOY,MCHC,MCV,Plt,RBC,WBC
0.33375
55.658
missense_variant
missense_variant
ENSG00000162722
0
ENSG00000230576
41,860
0
ENSG00000162722
missense_variant
ENSG00000162722
18,961
ENSG00000230576
41,860
18,961
ENSG00000162722
missense_variant
NA
NA
1
247,896,401
T
A
false
missense_variant
115
rs11204545
0.000103
0.33911
88.226
missense_variant
missense_variant
ENSG00000238243
0
ENSG00000226191
39,659
0
ENSG00000238243
missense_variant
ENSG00000238243
813
ENSG00000289367
40,740
813
ENSG00000238243
missense_variant
NA
NA
1
247,896,410
T
C
false
missense_variant
115
rs11204546
0.000068
0.33449
87.746
missense_variant
missense_variant
ENSG00000238243
0
ENSG00000226191
39,650
0
ENSG00000238243
missense_variant
ENSG00000238243
822
ENSG00000289367
40,731
822
ENSG00000238243
missense_variant
NA
NA
1
247,933,896
C
T
false
missense_variant
97
rs77842379
0.000023
0.000147
226.44
missense_variant
missense_variant
ENSG00000177275
0
ENSG00000226191
2,164
0
ENSG00000177275
missense_variant
ENSG00000177275
9,006
ENSG00000289367
3,245
3,245
ENSG00000289367
missense_variant
NA
NA
1
247,934,395
C
G
false
missense_variant
97
rs186074991
0.000016
0.000836
5.2062
missense_variant
missense_variant
ENSG00000177275
0
ENSG00000226191
1,665
0
ENSG00000177275
missense_variant
ENSG00000177275
9,505
ENSG00000289367
2,746
2,746
ENSG00000289367
missense_variant
NA
NA