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
218,705,477
G
A
false
distal
65
rs35907690
0.000097
0.061083
88.847
intergenic_variant
dELS
ENSG00000092969
260,857
ENSG00000212610
163,577
163,577
ENSG00000212610
dELS
ENSG00000092969
359,241
ENSG00000212610
163,577
163,577
ENSG00000212610
distal
NA
NA
1
218,706,373
T
C
false
distal
65
rs114524119
0.000108
0.010367
23.9
intergenic_variant
dELS
ENSG00000092969
261,753
ENSG00000212610
164,473
164,473
ENSG00000212610
dELS
ENSG00000092969
360,137
ENSG00000212610
164,473
164,473
ENSG00000212610
distal
NA
NA
1
218,706,441
C
T
true
distal
65
rs72742475
1
Height
0.022104
16.255
intergenic_variant
dELS
ENSG00000092969
261,821
ENSG00000212610
164,541
164,541
ENSG00000212610
dELS
ENSG00000092969
360,205
ENSG00000212610
164,541
164,541
ENSG00000212610
distal
NA
NA
1
218,708,468
C
A
false
distal
65
rs182535884
0.000122
0.005947
18.377
intergenic_variant
dELS
ENSG00000092969
263,848
ENSG00000212610
166,568
166,568
ENSG00000212610
dELS
ENSG00000092969
362,232
ENSG00000212610
166,568
166,568
ENSG00000212610
distal
NA
NA
1
218,711,127
A
T
false
distal
65
rs4846504
0.000024
0.00779
58.092
intergenic_variant
dELS
ENSG00000092969
266,507
ENSG00000212610
169,227
169,227
ENSG00000212610
dELS
ENSG00000092969
364,891
ENSG00000212610
169,227
169,227
ENSG00000212610
distal
NA
NA
1
218,712,161
A
G
false
distal
65
rs747451909
0.000012
0.001297
6.4924
intergenic_variant
dELS
ENSG00000092969
267,541
ENSG00000226693
169,438
169,438
ENSG00000226693
dELS
ENSG00000092969
365,925
ENSG00000212610
170,261
170,261
ENSG00000212610
distal
NA
NA
1
218,716,154
C
T
false
distal
65
rs189238277
0.000384
0.0098
33.044
intergenic_variant
dELS
ENSG00000092969
271,534
ENSG00000226693
165,445
165,445
ENSG00000226693
dELS
ENSG00000092969
369,918
ENSG00000226693
166,495
166,495
ENSG00000226693
distal
NA
NA
1
218,719,061
C
A
false
distal
65
rs28668279
0.000087
0.061015
89.413
intergenic_variant
dELS
ENSG00000092969
274,441
ENSG00000226693
162,538
162,538
ENSG00000226693
dELS
ENSG00000092969
372,825
ENSG00000226693
163,588
163,588
ENSG00000226693
distal
NA
NA
1
218,719,128
C
A
false
distal
65
rs28478494
0.000029
0.053339
94.579
intergenic_variant
dELS
ENSG00000092969
274,508
ENSG00000226693
162,471
162,471
ENSG00000226693
dELS
ENSG00000092969
372,892
ENSG00000226693
163,521
163,521
ENSG00000226693
distal
NA
NA
1
218,970,256
T
G
false
distal
21
rs629222
0.000094
0.29908
236.58
intergenic_variant
dELS_flank
ENSG00000143353
203,618
ENSG00000228063
6,415
6,415
ENSG00000228063
dELS_flank
ENSG00000143353
203,618
ENSG00000225561
51,541
51,541
ENSG00000225561
distal
NA
NA
1
218,971,579
A
C
false
distal
21
rs689378
0.00008
0.29963
237.49
intergenic_variant
dELS_flank
ENSG00000143353
202,295
ENSG00000228063
5,092
5,092
ENSG00000228063
dELS_flank
ENSG00000143353
202,295
ENSG00000225561
52,864
52,864
ENSG00000225561
distal
NA
NA
1
219,121,218
C
A
false
distal
66
rs537608548
0.000035
0.011122
31.071
intron_variant
dELS
ENSG00000143353
52,656
ENSG00000228063
15,168
15,168
ENSG00000228063
dELS
ENSG00000143353
52,656
ENSG00000228063
52,274
52,274
ENSG00000228063
distal
NA
NA
1
219,121,228
C
T
true
distal
66
rs61823192
0.944415
Diverticulosis
0.029748
53.666
intron_variant
dELS
ENSG00000143353
52,646
ENSG00000228063
15,178
15,178
ENSG00000228063
dELS
ENSG00000143353
52,646
ENSG00000228063
52,264
52,264
ENSG00000228063
distal
NA
NA
1
219,123,277
T
C
false
distal
66
rs543731983
0.000162
0.002858
12.134
intron_variant
dELS
ENSG00000143353
50,597
ENSG00000228063
17,227
17,227
ENSG00000228063
dELS
ENSG00000143353
50,597
ENSG00000228063
50,215
50,215
ENSG00000228063
distal
NA
NA
1
219,208,285
G
T
false
distal
3
rs10495126
0.000135
0.293
210.84
intron_variant
dELS_flank
ENSG00000143353
2,246
ENSG00000143353
2,056
2,056
ENSG00000143353
dELS_flank
ENSG00000143353
34,406
ENSG00000143353
2,056
2,056
ENSG00000143353
distal
NA
NA
1
219,444,566
T
C
false
distal
69
rs11576773
0.000082
0.26014
156.13
intron_variant
dELS
ENSG00000215817
163,445
ENSG00000228536
1,923
1,923
ENSG00000228536
dELS
ENSG00000215817
168,538
ENSG00000228536
1,923
1,923
ENSG00000228536
distal
NA
NA
1
219,928,157
G
A
true
missense_variant
110
rs188273166
1
ALT,AST,HDLC
0.001231
6.7115
missense_variant
missense_variant
ENSG00000196660
0
ENSG00000196660
0
0
ENSG00000196660
missense_variant
ENSG00000196660
399
ENSG00000196660
493
399
ENSG00000196660
missense_variant
NA
NA
1
219,962,773
A
G
false
non_coding_transcript_exon_variant
121
rs10735497
0.000048
0.47471
200.31
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000196660
3,754
ENSG00000221673
0
0
ENSG00000221673
non_coding_transcript_exon_variant
ENSG00000196660
3,754
ENSG00000221673
120
120
ENSG00000221673
non_coding_transcript_exon_variant
NA
NA
1
220,006,369
C
A
false
tss_proximal
185
rs41274788
0.00003
0.009159
71.601
intron_variant
intron_variant
ENSG00000136628
55
ENSG00000136628
55
55
ENSG00000136628
tss_proximal
ENSG00000136628
40,081
ENSG00000136628
995
995
ENSG00000136628
tss_proximal
tss_prox:b2
tss_prox:b0
1
220,021,001
A
G
false
distal
170
rs1768674
0.000248
0.16559
272.3
intron_variant
CA-CTCF_flank
ENSG00000136628
779
ENSG00000136628
1,345
779
ENSG00000136628
CA-CTCF_flank
ENSG00000136628
25,449
ENSG00000136628
13,635
13,635
ENSG00000136628
distal
NA
NA
1
220,057,261
G
A
false
distal
186
rs149345504
0.000104
0.087831
215.66
downstream_gene_variant
downstream_gene_variant
ENSG00000162813
220
ENSG00000162813
5,537
220
ENSG00000162813
downstream_gene_variant
ENSG00000136628
10,755
ENSG00000136628
10,730
10,730
ENSG00000136628
distal
NA
NA
1
220,090,556
A
G
false
tss_proximal
174
rs113231783
0.000137
0.18215
167.47
upstream_gene_variant
PLS
ENSG00000162813
93
ENSG00000162813
822
93
ENSG00000162813
tss_proximal
ENSG00000162813
93
ENSG00000162813
822
93
ENSG00000162813
tss_proximal
tss_prox:b0
tss_prox:b0
1
220,091,261
G
A
false
tss_proximal
137
rs149846278
0.000233
0.023111
33.909
upstream_gene_variant
upstream_gene_variant
ENSG00000162813
798
ENSG00000162813
1,527
798
ENSG00000162813
tss_proximal
ENSG00000162813
798
ENSG00000162813
1,527
798
ENSG00000162813
tss_proximal
tss_prox:b1
tss_prox:b1
1
220,165,209
G
A
false
non_coding_transcript_exon_variant
122
rs147682354
0.000079
0.006082
12.173
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000118873
409
ENSG00000118873
0
0
ENSG00000118873
non_coding_transcript_exon_variant
ENSG00000067704
71,076
ENSG00000118873
1,794
1,794
ENSG00000118873
non_coding_transcript_exon_variant
NA
NA
1
220,166,137
G
A
false
non_coding_transcript_exon_variant
122
rs2808027
0.000032
0.009957
76.541
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000118873
1,155
ENSG00000118873
0
0
ENSG00000118873
non_coding_transcript_exon_variant
ENSG00000067704
72,004
ENSG00000118873
2,722
2,722
ENSG00000118873
non_coding_transcript_exon_variant
NA
NA
1
220,448,292
A
G
false
tss_proximal
180
rs75572368
0.000883
0.031288
145.67
upstream_gene_variant
pELS
ENSG00000116141
79,843
ENSG00000235163
223
223
ENSG00000235163
tss_proximal
ENSG00000116141
79,843
ENSG00000235163
223
223
ENSG00000235163
tss_proximal
tss_prox:b2
tss_prox:b2
1
220,448,420
A
G
false
tss_proximal
180
rs73092281
0.000872
0.031506
145.86
upstream_gene_variant
pELS
ENSG00000116141
79,715
ENSG00000235163
95
95
ENSG00000235163
tss_proximal
ENSG00000116141
79,715
ENSG00000235163
95
95
ENSG00000235163
tss_proximal
tss_prox:b2
tss_prox:b2
1
220,527,843
A
G
false
tss_proximal
144
rs3753874
0.000323
0.28818
219.91
upstream_gene_variant
pELS
ENSG00000116141
292
ENSG00000116141
377
292
ENSG00000116141
tss_proximal
ENSG00000116141
292
ENSG00000116141
377
292
ENSG00000116141
tss_proximal
tss_prox:b1
tss_prox:b1
1
220,796,686
A
G
true
missense_variant
111
rs2642438
1
ALP,ALT,ApoA,HDLC,SHBG,TG
0.29705
71.444
missense_variant
missense_variant
ENSG00000186205
0
ENSG00000186205
0
0
ENSG00000186205
missense_variant
ENSG00000186205
68
ENSG00000186205
66
66
ENSG00000186205
missense_variant
NA
NA
1
220,800,832
C
T
true
splicing
188
rs12046182
0.9984
eBMD
0.20993
62.967
intron_variant
dELS_flank
ENSG00000186205
28
ENSG00000186205
1,817
28
ENSG00000186205
exon_proximal
ENSG00000186205
4,076
ENSG00000186205
3,069
3,069
ENSG00000186205
splicing
NA
splicing:b1
1
220,827,800
A
C
true
distal
164
rs61830291
0.99659
TG,eGFR,sCr
0.096895
77.997
downstream_gene_variant
pELS_flank
ENSG00000186205
8,140
ENSG00000272823
875
875
ENSG00000272823
pELS_flank
ENSG00000186205
31,044
ENSG00000272823
1,410
1,410
ENSG00000272823
distal
NA
NA
1
220,828,385
A
C
true
tss_proximal
182
rs145990041
0.997365
IGF1
0.014602
68.221
upstream_gene_variant
pELS
ENSG00000186205
8,725
ENSG00000272823
290
290
ENSG00000272823
tss_proximal
ENSG00000186205
31,629
ENSG00000272823
825
825
ENSG00000272823
tss_proximal
tss_prox:b2
tss_prox:b2
1
220,887,821
A
C
false
distal
63
rs2807859
0.001627
0.46117
109.31
intergenic_variant
dELS
ENSG00000136630
2,761
ENSG00000136630
2,764
2,761
ENSG00000136630
dELS
ENSG00000136630
6,751
ENSG00000257551
7,680
6,751
ENSG00000136630
distal
NA
NA
1
220,887,912
C
T
false
distal
63
rs2807860
0.001821
0.46132
109.34
intergenic_variant
dELS
ENSG00000136630
2,852
ENSG00000136630
2,855
2,852
ENSG00000136630
dELS
ENSG00000136630
6,842
ENSG00000257551
7,771
6,842
ENSG00000136630
distal
NA
NA
1
221,282,876
T
C
false
distal
14
rs3924520
0.000636
0.28166
157.29
intergenic_variant
dELS_flank
ENSG00000136630
397,816
ENSG00000234754
47,203
47,203
ENSG00000234754
dELS_flank
ENSG00000136630
401,806
ENSG00000234754
53,081
53,081
ENSG00000234754
distal
NA
NA
1
221,283,337
T
C
false
distal
14
rs2068446
0.000642
0.28166
157.28
intergenic_variant
dELS_flank
ENSG00000136630
398,277
ENSG00000234754
46,742
46,742
ENSG00000234754
dELS_flank
ENSG00000136630
402,267
ENSG00000234754
52,620
52,620
ENSG00000234754
distal
NA
NA
1
221,284,847
A
G
false
distal
14
rs34064794
0.000618
0.2817
157.23
intergenic_variant
dELS_flank
ENSG00000136630
399,787
ENSG00000234754
45,232
45,232
ENSG00000234754
dELS_flank
ENSG00000136630
403,777
ENSG00000234754
51,110
51,110
ENSG00000234754
distal
NA
NA
1
221,284,992
A
G
false
distal
14
rs35889631
0.000621
0.28164
157.25
intergenic_variant
dELS_flank
ENSG00000136630
399,932
ENSG00000234754
45,087
45,087
ENSG00000234754
dELS_flank
ENSG00000136630
403,922
ENSG00000234754
50,965
50,965
ENSG00000234754
distal
NA
NA
1
221,286,443
A
C
false
distal
14
rs12711502
0.000377
0.28122
157.29
intergenic_variant
dELS_flank
ENSG00000136630
401,383
ENSG00000234754
43,636
43,636
ENSG00000234754
dELS_flank
ENSG00000136630
405,373
ENSG00000234754
49,514
49,514
ENSG00000234754
distal
NA
NA
1
221,286,448
T
C
false
distal
14
rs12711503
0.000455
0.28169
157.18
intergenic_variant
dELS_flank
ENSG00000136630
401,388
ENSG00000234754
43,631
43,631
ENSG00000234754
dELS_flank
ENSG00000136630
405,378
ENSG00000234754
49,509
49,509
ENSG00000234754
distal
NA
NA
1
221,292,690
C
T
false
distal
14
rs58846930
0.001205
0.32527
161.23
intergenic_variant
dELS_flank
ENSG00000136630
407,630
ENSG00000234754
37,389
37,389
ENSG00000234754
dELS_flank
ENSG00000136630
411,620
ENSG00000234754
43,267
43,267
ENSG00000234754
distal
NA
NA
1
221,738,195
T
C
false
distal
39
rs79278676
0.000921
0.035125
55.823
intron_variant
dELS
ENSG00000143507
738
ENSG00000143507
1,294
738
ENSG00000143507
dELS
ENSG00000143507
3,893
ENSG00000143507
1,294
1,294
ENSG00000143507
distal
NA
NA
1
221,839,608
A
C
false
distal
152
rs4579763
0.000058
0.12912
61.268
intron_variant
pELS
ENSG00000143507
97,518
ENSG00000227925
699
699
ENSG00000227925
pELS
ENSG00000143507
97,518
ENSG00000227925
1,080
1,080
ENSG00000227925
distal
NA
NA
1
222,628,319
A
T
false
missense_variant
95
rs142088763
0.000025
0.015733
17.635
missense_variant
missense_variant
ENSG00000154305
0
ENSG00000154305
0
0
ENSG00000154305
missense_variant
ENSG00000154305
154
ENSG00000154305
10,219
154
ENSG00000154305
missense_variant
NA
NA
1
222,629,720
A
G
false
missense_variant
75
rs79054337
0.000032
0.008589
23.345
missense_variant
missense_variant
ENSG00000154305
0
ENSG00000154305
0
0
ENSG00000154305
missense_variant
ENSG00000154305
1,245
ENSG00000154305
11,620
1,245
ENSG00000154305
missense_variant
NA
NA
1
222,791,380
G
A
false
distal
35
rs4316372
0.000028
0.42197
72.667
intergenic_variant
dELS
ENSG00000154309
23,658
ENSG00000287684
18,230
18,230
ENSG00000287684
dELS
ENSG00000154309
23,658
ENSG00000287684
18,230
18,230
ENSG00000287684
distal
NA
NA
1
223,005,136
G
A
false
missense_variant
85
rs9441940
0.000064
0.18325
107.79
missense_variant
missense_variant
ENSG00000154309
0
ENSG00000154309
0
0
ENSG00000154309
missense_variant
ENSG00000154309
76,711
ENSG00000234523
59,410
59,410
ENSG00000234523
missense_variant
NA
NA
1
223,162,748
G
A
false
distal
156
rs1773755
0.000029
0.32128
107.79
intergenic_variant
intergenic_variant
ENSG00000187554
19,499
ENSG00000236846
17,793
17,793
ENSG00000236846
intergenic_variant
ENSG00000187554
19,499
ENSG00000226601
18,395
18,395
ENSG00000226601
distal
NA
NA
1
223,231,735
C
G
false
tss_proximal
178
rs143318183
0.000015
0.024465
22.873
intron_variant
dELS_flank
ENSG00000143502
2,340
ENSG00000143502
987
987
ENSG00000143502
tss_proximal
ENSG00000187554
88,486
ENSG00000143502
987
987
ENSG00000143502
tss_proximal
tss_prox:b2
tss_prox:b2
1
223,394,461
G
A
false
missense_variant
114
rs10907376
0.006506
0.27694
182.23
missense_variant
missense_variant
ENSG00000178395
0
ENSG00000251789
20,504
0
ENSG00000178395
missense_variant
ENSG00000178395
1,045
ENSG00000251789
20,638
1,045
ENSG00000178395
missense_variant
NA
NA
1
223,541,587
A
G
false
splicing
188
rs61823523
0.000022
0.20337
129.98
intron_variant
CA-CTCF
ENSG00000203697
28
ENSG00000203697
28
28
ENSG00000203697
exon_proximal
ENSG00000203697
9,429
ENSG00000203697
1,578
1,578
ENSG00000203697
splicing
NA
splicing:b1
1
223,544,808
C
T
false
missense_variant
86
rs148756356
0.000087
0.006921
20.079
missense_variant
missense_variant
ENSG00000203697
0
ENSG00000203697
0
0
ENSG00000203697
missense_variant
ENSG00000203697
6,208
ENSG00000203697
537
537
ENSG00000203697
missense_variant
NA
NA
1
223,626,980
A
T
false
splicing
188
rs67990281
0.000019
0.20218
132.72
intron_variant
intron_variant
ENSG00000203697
8
ENSG00000203697
8
8
ENSG00000203697
exon_proximal
ENSG00000203697
1,724
ENSG00000203697
1,989
1,724
ENSG00000203697
splicing
NA
splicing:b1
1
223,635,709
A
G
false
distal
4
rs28971445
0.000024
0.33998
110.26
intron_variant
dELS_flank
ENSG00000203697
6,928
ENSG00000203697
6,738
6,738
ENSG00000203697
dELS_flank
ENSG00000203697
7,003
ENSG00000203697
6,738
6,738
ENSG00000203697
distal
NA
NA
1
223,710,653
G
A
false
distal
150
rs28739568
0.000012
0.023698
32.523
intron_variant
pELS
ENSG00000162909
1,885
ENSG00000212398
20,538
1,885
ENSG00000162909
pELS
ENSG00000162909
1,885
ENSG00000212398
20,601
1,885
ENSG00000162909
distal
NA
NA
1
223,710,988
C
T
false
distal
150
rs12130788
0.000579
0.063375
131.27
intron_variant
pELS
ENSG00000162909
1,550
ENSG00000212398
20,873
1,550
ENSG00000162909
pELS
ENSG00000162909
1,550
ENSG00000212398
20,936
1,550
ENSG00000162909
distal
NA
NA
1
223,761,612
G
C
false
missense_variant
106
rs28370127
0.000026
0.009828
39.09
missense_variant
missense_variant
ENSG00000162909
0
ENSG00000162909
0
0
ENSG00000162909
missense_variant
ENSG00000162909
49,072
ENSG00000162909
2,177
2,177
ENSG00000162909
missense_variant
NA
NA
1
223,786,608
A
G
false
distal
13
rs11810318
0.000045
0.34886
213.3
intron_variant
dELS_flank
ENSG00000143514
2,293
ENSG00000143514
2,293
2,293
ENSG00000143514
dELS_flank
ENSG00000143514
27,719
ENSG00000143514
14,117
14,117
ENSG00000143514
distal
NA
NA
1
223,804,257
G
A
false
missense_variant
94
rs61749337
0.00003
0.01502
22.654
missense_variant
missense_variant
ENSG00000143514
0
ENSG00000143514
0
0
ENSG00000143514
missense_variant
ENSG00000143514
10,070
ENSG00000143514
926
926
ENSG00000143514
missense_variant
NA
NA
1
223,910,278
A
G
false
distal
157
rs12044554
0.000125
0.28061
250.51
intergenic_variant
intergenic_variant
ENSG00000143514
64,330
ENSG00000233771
37,326
37,326
ENSG00000233771
intergenic_variant
ENSG00000143514
64,330
ENSG00000233771
37,326
37,326
ENSG00000233771
distal
NA
NA
1
224,128,503
T
C
false
distal
15
rs12737029
0.000088
0.1424
151.85
intron_variant
dELS_flank
ENSG00000143756
1,968
ENSG00000143756
1,968
1,968
ENSG00000143756
dELS_flank
ENSG00000143756
14,391
ENSG00000143756
14,284
14,284
ENSG00000143756
distal
NA
NA
1
224,215,007
G
T
false
distal
164
rs150030688
0.000021
0.097941
133.77
intergenic_variant
pELS_flank
ENSG00000143748
12,326
ENSG00000232628
1,381
1,381
ENSG00000232628
pELS_flank
ENSG00000143753
31,740
ENSG00000232628
1,381
1,381
ENSG00000232628
distal
NA
NA
1
224,514,566
C
T
false
tss_proximal
180
rs141153132
0.000292
0.03639
82.688
intron_variant
dELS_flank
ENSG00000162923
77,532
ENSG00000143786
629
629
ENSG00000143786
tss_proximal
ENSG00000162923
77,532
ENSG00000143786
877
877
ENSG00000143786
tss_proximal
tss_prox:b2
tss_prox:b2
1
224,608,418
T
C
false
non_coding_transcript_exon_variant
118
rs2405317
0.000105
0.40087
177.71
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000143786
7,898
ENSG00000233384
0
0
ENSG00000233384
non_coding_transcript_exon_variant
ENSG00000143786
7,898
ENSG00000233384
7,440
7,440
ENSG00000233384
non_coding_transcript_exon_variant
NA
NA
1
224,608,637
A
G
false
non_coding_transcript_exon_variant
118
rs4654057
0.000118
0.40252
178.84
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000143786
7,679
ENSG00000233384
0
0
ENSG00000233384
non_coding_transcript_exon_variant
ENSG00000143786
7,679
ENSG00000233384
7,221
7,221
ENSG00000233384
non_coding_transcript_exon_variant
NA
NA
1
224,632,746
A
G
false
distal
35
rs6661853
0.000065
0.42438
183.83
intron_variant
dELS
ENSG00000143786
15,490
ENSG00000233384
16,525
15,490
ENSG00000143786
dELS
ENSG00000143786
16,428
ENSG00000233384
16,525
16,428
ENSG00000143786
distal
NA
NA
1
225,276,070
A
G
false
missense_variant
85
rs581675
0.000322
0.1098
341.77
missense_variant
missense_variant
ENSG00000185842
0
ENSG00000185842
0
0
ENSG00000185842
missense_variant
ENSG00000185842
25,406
ENSG00000185842
35,275
25,406
ENSG00000185842
missense_variant
NA
NA
1
225,346,229
A
G
false
missense_variant
85
rs17522489
0.000634
0.17924
161.3
missense_variant
missense_variant
ENSG00000185842
0
ENSG00000185842
0
0
ENSG00000185842
missense_variant
ENSG00000185842
43,510
ENSG00000143815
58,335
43,510
ENSG00000185842
missense_variant
NA
NA
1
225,354,197
C
T
false
missense_variant
85
rs3915579
0.00005
0.069451
118.84
missense_variant
missense_variant
ENSG00000185842
0
ENSG00000185842
2,313
0
ENSG00000185842
missense_variant
ENSG00000185842
35,542
ENSG00000143815
50,367
35,542
ENSG00000185842
missense_variant
NA
NA
1
225,373,644
T
C
true
distal
171
rs7518221
0.969785
BMI,BW
0.35447
162.29
intron_variant
CA-CTCF_flank
ENSG00000185842
1,043
ENSG00000185842
1,043
1,043
ENSG00000185842
CA-CTCF_flank
ENSG00000185842
16,095
ENSG00000143815
30,920
16,095
ENSG00000185842
distal
NA
NA
1
225,389,946
C
T
false
tss_proximal
190
rs12134158
0.000325
0.40822
195.44
intron_variant
dELS
ENSG00000185842
72
ENSG00000185842
72
72
ENSG00000185842
tss_proximal
ENSG00000185842
205
ENSG00000143815
14,618
205
ENSG00000185842
tss_proximal
tss_prox:b1
tss_prox:b0
1
225,700,346
A
G
false
non_coding_transcript_exon_variant
116
rs7532354
0.000197
0.066735
92.387
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000154380
47,203
ENSG00000227496
0
0
ENSG00000227496
non_coding_transcript_exon_variant
ENSG00000154380
47,203
ENSG00000227496
81
81
ENSG00000227496
non_coding_transcript_exon_variant
NA
NA
1
225,774,988
C
T
true
distal
67
rs6696074
0.963165
HbA1c,Plt
0.43433
98.571
intergenic_variant
dELS
ENSG00000143742
2,824
ENSG00000143742
2,857
2,824
ENSG00000143742
dELS
ENSG00000143742
2,824
ENSG00000143742
2,857
2,824
ENSG00000143742
distal
NA
NA
1
225,787,842
G
A
false
distal
24
rs4653677
0.000171
0.096332
78.067
intron_variant
dELS_flank
ENSG00000143742
128
ENSG00000143742
662
128
ENSG00000143742
dELS_flank
ENSG00000143742
9,906
ENSG00000143742
9,963
9,906
ENSG00000143742
distal
NA
NA
1
225,857,685
T
C
false
distal
39
rs77715761
0.00025
0.037135
147.63
intron_variant
dELS
ENSG00000196187
667
ENSG00000196187
667
667
ENSG00000196187
dELS
ENSG00000196187
9,062
ENSG00000196187
1,855
1,855
ENSG00000196187
distal
NA
NA
1
225,862,909
C
A
false
non_coding_transcript_exon_variant
120
rs10158985
0.000062
0.22746
63.117
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000196187
57
ENSG00000196187
0
0
ENSG00000196187
non_coding_transcript_exon_variant
ENSG00000196187
3,838
ENSG00000196187
3,301
3,301
ENSG00000196187
non_coding_transcript_exon_variant
NA
NA
1
225,866,633
G
A
false
missense_variant
103
rs45492299
0.000381
0.17439
94.066
missense_variant
missense_variant
ENSG00000196187
0
ENSG00000196187
222
0
ENSG00000196187
missense_variant
ENSG00000196187
114
ENSG00000196187
222
114
ENSG00000196187
missense_variant
NA
NA
1
225,888,008
A
G
false
missense_variant
95
rs145431393
0.00019
0.035194
139.77
missense_variant
missense_variant
ENSG00000243709
0
ENSG00000243709
0
0
ENSG00000243709
missense_variant
ENSG00000243709
1,137
ENSG00000196187
10,513
1,137
ENSG00000243709
missense_variant
NA
NA
1
225,888,969
C
T
false
missense_variant
95
rs41310561
0.000228
0.036955
147.87
missense_variant
missense_variant
ENSG00000243709
0
ENSG00000243709
936
0
ENSG00000243709
missense_variant
ENSG00000243709
176
ENSG00000196187
11,474
176
ENSG00000243709
missense_variant
NA
NA
1
225,926,799
G
A
false
distal
56
rs10799329
0.001575
0.22029
90.07
intergenic_variant
dELS
ENSG00000143811
2,458
ENSG00000143811
2,520
2,458
ENSG00000143811
dELS
ENSG00000143811
2,458
ENSG00000143811
2,520
2,458
ENSG00000143811
distal
NA
NA
1
226,063,637
C
T
false
5_prime_UTR_variant
127
rs56268212
0.000457
0.010196
24.352
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000163041
0
ENSG00000163041
691
0
ENSG00000163041
5_prime_UTR_variant
ENSG00000163041
142
ENSG00000163041
853
142
ENSG00000163041
5_prime_UTR_variant
NA
NA
1
226,122,239
A
G
false
distal
60
rs185276885
0.000192
0.040025
38.815
intergenic_variant
dELS
ENSG00000182827
22,439
ENSG00000270598
4,938
4,938
ENSG00000270598
dELS
ENSG00000163041
58,261
ENSG00000270598
4,938
4,938
ENSG00000270598
distal
NA
NA
1
226,254,768
G
A
false
distal
48
rs12130923
0.000033
0.006549
10.585
intron_variant
dELS
ENSG00000183814
3,848
ENSG00000185155
28,378
3,848
ENSG00000183814
dELS
ENSG00000185155
31,103
ENSG00000185155
29,264
29,264
ENSG00000185155
distal
NA
NA
1
226,254,808
G
A
false
distal
48
rs552198669
0.000024
0.002383
15.169
intron_variant
dELS
ENSG00000183814
3,888
ENSG00000185155
28,418
3,888
ENSG00000183814
dELS
ENSG00000185155
31,143
ENSG00000185155
29,304
29,304
ENSG00000185155
distal
NA
NA
1
226,254,885
T
C
false
distal
48
rs545136041
0.003056
0.002805
15.045
intron_variant
dELS
ENSG00000183814
3,965
ENSG00000185155
28,495
3,965
ENSG00000183814
dELS
ENSG00000185155
31,220
ENSG00000185155
29,381
29,381
ENSG00000185155
distal
NA
NA
1
226,335,062
G
A
false
distal
22
rs185909393
0.00611
0.003006
13.547
intergenic_variant
dELS_flank
ENSG00000183814
25,192
ENSG00000275406
1,406
1,406
ENSG00000275406
dELS_flank
ENSG00000183814
25,192
ENSG00000275406
1,406
1,406
ENSG00000275406
distal
NA
NA
1
226,335,270
A
G
false
distal
22
rs150312568
0.000037
0.011786
27.272
intergenic_variant
dELS_flank
ENSG00000183814
25,400
ENSG00000275406
1,614
1,614
ENSG00000275406
dELS_flank
ENSG00000183814
25,400
ENSG00000275406
1,614
1,614
ENSG00000275406
distal
NA
NA
1
226,449,044
T
G
false
distal
50
rs12026209
0.003643
0.24543
118.9
intergenic_variant
dELS
ENSG00000143799
40,943
ENSG00000223282
2,751
2,751
ENSG00000223282
dELS
ENSG00000143799
40,943
ENSG00000223282
3,106
3,106
ENSG00000223282
distal
NA
NA
1
226,585,132
T
G
false
distal
147
rs1461921
0.000038
0.45312
82.279
intron_variant
intron_variant
ENSG00000203685
11,669
ENSG00000203685
15,456
11,669
ENSG00000203685
intron_variant
ENSG00000203685
36,331
ENSG00000203685
15,456
15,456
ENSG00000203685
distal
NA
NA
1
226,601,745
G
A
false
distal
3
rs731039
0.000099
0.28096
81.666
intron_variant
dELS_flank
ENSG00000203685
260
ENSG00000203685
260
260
ENSG00000203685
dELS_flank
ENSG00000203685
52,944
ENSG00000203685
1,155
1,155
ENSG00000203685
distal
NA
NA
1
226,634,679
G
C
false
missense_variant
112
rs41268733
0.000028
0.003081
23.78
missense_variant
missense_variant
ENSG00000143772
0
ENSG00000228382
21,400
0
ENSG00000143772
missense_variant
ENSG00000203685
85,878
ENSG00000228382
24,990
24,990
ENSG00000228382
missense_variant
NA
NA
1
226,637,747
C
T
false
missense_variant
112
rs41314270
0.000066
0.001439
7.9046
missense_variant
missense_variant
ENSG00000143772
0
ENSG00000228382
18,332
0
ENSG00000143772
missense_variant
ENSG00000203685
88,946
ENSG00000228382
21,922
21,922
ENSG00000228382
missense_variant
NA
NA
1
226,642,093
C
T
false
missense_variant
112
rs200031424
0.000067
0.000054
7.5005
missense_variant
missense_variant
ENSG00000143772
0
ENSG00000228382
13,986
0
ENSG00000143772
missense_variant
ENSG00000203685
93,292
ENSG00000228382
17,576
17,576
ENSG00000228382
missense_variant
NA
NA
1
226,883,747
C
T
false
missense_variant
80
rs150400387
0.000092
0.000734
9.5197
missense_variant
missense_variant
ENSG00000143801
0
ENSG00000143801
0
0
ENSG00000143801
missense_variant
ENSG00000143801
875
ENSG00000143801
743
743
ENSG00000143801
missense_variant
NA
NA
1
226,883,748
G
A
false
missense_variant
80
rs58973334
0.000039
0.001036
57.643
missense_variant
missense_variant
ENSG00000143801
0
ENSG00000143801
0
0
ENSG00000143801
missense_variant
ENSG00000143801
874
ENSG00000143801
744
744
ENSG00000143801
missense_variant
NA
NA
1
226,966,532
G
A
false
distal
36
rs2802277
0.000599
0.21318
328.86
intron_variant
dELS
ENSG00000163050
794
ENSG00000163050
794
794
ENSG00000163050
dELS
ENSG00000163050
26,237
ENSG00000228525
8,264
8,264
ENSG00000228525
distal
NA
NA
1
227,069,805
G
A
false
missense_variant
76
rs548551223
0.0002
0.000435
8.0779
missense_variant
missense_variant
ENSG00000143776
0
ENSG00000143776
0
0
ENSG00000143776
missense_variant
ENSG00000143776
4,558
ENSG00000143776
11,119
4,558
ENSG00000143776
missense_variant
NA
NA
1
227,245,222
C
G
false
distal
26
rs2670462
0.001959
0.37558
457.32
intron_variant
dELS
ENSG00000143776
8,841
ENSG00000143776
8,841
8,841
ENSG00000143776
dELS
ENSG00000143776
71,959
ENSG00000143776
8,932
8,932
ENSG00000143776
distal
NA
NA
1
227,316,437
G
A
false
tss_proximal
144
rs4653819
0.000344
0.28482
829.17
intron_variant
pELS_flank
ENSG00000143776
567
ENSG00000143776
567
567
ENSG00000143776
tss_proximal
ENSG00000143776
744
ENSG00000143776
609
609
ENSG00000143776
tss_proximal
tss_prox:b1
tss_prox:b1
1
227,316,602
T
C
false
tss_proximal
144
rs4653820
0.000344
0.28482
829.17
intron_variant
pELS
ENSG00000143776
402
ENSG00000143776
402
402
ENSG00000143776
tss_proximal
ENSG00000143776
579
ENSG00000143776
444
444
ENSG00000143776
tss_proximal
tss_prox:b1
tss_prox:b1