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
19
3,207,648
A
G
false
missense_variant
1,006
rs2288949
0.002828
0.036373
41.726
missense_variant
missense_variant
ENSG00000125912
0
ENSG00000125912
0
0
ENSG00000125912
missense_variant
ENSG00000125912
1,225
ENSG00000125912
181
181
ENSG00000125912
missense_variant
NA
NA
19
3,208,352
A
G
false
3_prime_UTR_variant
1,106
rs312070
0.001953
0.45549
102.05
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000125912
0
ENSG00000125912
604
0
ENSG00000125912
3_prime_UTR_variant
ENSG00000125912
1,929
ENSG00000125912
885
885
ENSG00000125912
3_prime_UTR_variant
NA
NA
19
3,208,420
T
C
false
3_prime_UTR_variant
1,106
rs312071
0.001943
0.45548
102.05
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000125912
0
ENSG00000125912
672
0
ENSG00000125912
3_prime_UTR_variant
ENSG00000125912
1,997
ENSG00000125912
953
953
ENSG00000125912
3_prime_UTR_variant
NA
NA
19
3,229,226
G
A
false
distal
1,056
rs4807425
0.000178
0.21941
61.789
intron_variant
dELS_flank
ENSG00000161082
4,227
ENSG00000161082
3,607
3,607
ENSG00000161082
dELS_flank
ENSG00000161082
4,521
ENSG00000161082
3,740
3,740
ENSG00000161082
distal
NA
NA
19
3,364,306
G
A
false
distal
1,092
rs113398558
0.000704
0.072836
14.008
intron_variant
dELS
ENSG00000141905
2,242
ENSG00000279599
7,088
2,242
ENSG00000141905
dELS
ENSG00000141905
2,242
ENSG00000279599
7,088
2,242
ENSG00000141905
distal
NA
NA
19
3,375,574
A
G
true
distal
1,071
rs60018147
1
SHBG,eBMD
0.12047
9.0065
intron_variant
dELS
ENSG00000141905
6,137
ENSG00000279599
3,971
3,971
ENSG00000279599
dELS
ENSG00000141905
8,990
ENSG00000279599
4,178
4,178
ENSG00000279599
distal
NA
NA
19
3,404,145
C
A
true
distal
1,072
rs10410896
0.99939
HbA1c
0.1103
32.785
intron_variant
dELS
ENSG00000141905
20,960
ENSG00000141905
6,450
6,450
ENSG00000141905
dELS
ENSG00000141905
37,561
ENSG00000141905
6,450
6,450
ENSG00000141905
distal
NA
NA
19
3,522,599
C
G
false
tss_proximal
993
rs566310762
0.000098
0.007943
8.0527
intron_variant
pELS
ENSG00000105325
356
ENSG00000105325
356
356
ENSG00000105325
tss_proximal
ENSG00000105325
390
ENSG00000105325
384
384
ENSG00000105325
tss_proximal
tss_prox:b1
tss_prox:b1
19
3,528,393
T
C
false
distal
1,076
rs28666054
0.004814
0.42605
82.626
intron_variant
dELS
ENSG00000105325
578
ENSG00000105325
578
578
ENSG00000105325
dELS
ENSG00000105325
5,402
ENSG00000105325
2,292
2,292
ENSG00000105325
distal
NA
NA
19
3,556,941
G
A
false
tss_proximal
990
rs75036876
0.000126
0.021893
9.3656
intron_variant
pELS
ENSG00000161091
164
ENSG00000161091
191
164
ENSG00000161091
tss_proximal
ENSG00000161091
621
ENSG00000161091
621
621
ENSG00000161091
tss_proximal
tss_prox:b1
tss_prox:b1
19
3,590,831
T
C
false
synonymous_variant
1,060
rs11878260
0.00024
0.024079
12.536
synonymous_variant
synonymous_variant
ENSG00000179855
0
ENSG00000006638
7,090
0
ENSG00000179855
synonymous_variant
ENSG00000179855
5,232
ENSG00000006638
9,301
5,232
ENSG00000179855
synonymous_variant
NA
NA
19
3,617,908
A
C
false
distal
1,076
rs11085028
0.001021
0.43109
102.18
intron_variant
dELS
ENSG00000105298
966
ENSG00000105298
966
966
ENSG00000105298
dELS
ENSG00000105298
1,257
ENSG00000105298
1,215
1,215
ENSG00000105298
distal
NA
NA
19
3,698,159
C
T
false
distal
1,091
rs111680060
0.000159
0.008089
6.7421
intron_variant
dELS
ENSG00000186111
2,137
ENSG00000186111
2,137
2,137
ENSG00000186111
dELS
ENSG00000186111
2,230
ENSG00000186111
2,281
2,230
ENSG00000186111
distal
NA
NA
19
3,737,180
T
C
false
distal
1,043
rs139724001
0.000092
0.008754
7.4128
intron_variant
dELS_flank
ENSG00000105289
858
ENSG00000105289
6,482
858
ENSG00000105289
dELS_flank
ENSG00000105289
8,803
ENSG00000105289
6,482
6,482
ENSG00000105289
distal
NA
NA
19
3,739,405
G
A
false
distal
1,054
rs55690752
0.000269
0.18747
30.817
intron_variant
dELS_flank
ENSG00000105289
270
ENSG00000105289
4,257
270
ENSG00000105289
dELS_flank
ENSG00000105289
11,028
ENSG00000105289
4,257
4,257
ENSG00000105289
distal
NA
NA
19
3,739,440
A
T
false
distal
1,054
rs56281248
0.000269
0.18739
30.834
intron_variant
dELS_flank
ENSG00000105289
305
ENSG00000105289
4,222
305
ENSG00000105289
dELS_flank
ENSG00000105289
11,063
ENSG00000105289
4,222
4,222
ENSG00000105289
distal
NA
NA
19
3,771,588
G
A
false
missense_variant
1,035
rs76076446
0.000342
0.022251
11.536
missense_variant
missense_variant
ENSG00000173976
0
ENSG00000267148
4,407
0
ENSG00000173976
missense_variant
ENSG00000173976
622
ENSG00000267148
4,593
622
ENSG00000173976
missense_variant
NA
NA
19
3,779,016
C
A
false
synonymous_variant
1,063
rs36072143
0.000181
0.041372
19.324
synonymous_variant
synonymous_variant
ENSG00000007264
0
ENSG00000267148
2,833
0
ENSG00000007264
synonymous_variant
ENSG00000007264
4,901
ENSG00000267148
2,833
2,833
ENSG00000267148
synonymous_variant
NA
NA
19
3,781,164
G
A
false
distal
1,077
rs11671452
0.000723
0.2001
28.035
intron_variant
dELS
ENSG00000007264
442
ENSG00000267148
4,981
442
ENSG00000007264
dELS
ENSG00000007264
2,753
ENSG00000267148
4,981
2,753
ENSG00000007264
distal
NA
NA
19
3,781,166
G
A
false
distal
1,077
rs11671453
0.000748
0.20013
28.044
intron_variant
dELS
ENSG00000007264
440
ENSG00000267148
4,983
440
ENSG00000007264
dELS
ENSG00000007264
2,751
ENSG00000267148
4,983
2,751
ENSG00000007264
distal
NA
NA
19
3,802,900
T
G
false
tss_proximal
989
rs8108820
0.00009
0.05608
11.184
upstream_gene_variant
pELS_flank
ENSG00000007264
770
ENSG00000007264
1,096
770
ENSG00000007264
tss_proximal
ENSG00000007264
770
ENSG00000007264
1,096
770
ENSG00000007264
tss_proximal
tss_prox:b1
tss_prox:b1
19
3,817,896
A
G
false
distal
1,084
rs1106643
0.000395
0.45181
73.024
intron_variant
dELS
ENSG00000105278
1,050
ENSG00000105278
3,530
1,050
ENSG00000105278
dELS
ENSG00000007264
15,766
ENSG00000007264
16,092
15,766
ENSG00000007264
distal
NA
NA
19
3,819,277
A
T
false
distal
1,084
rs2301840
0.000387
0.45884
75.437
intron_variant
dELS
ENSG00000105278
41
ENSG00000105278
2,149
41
ENSG00000105278
dELS
ENSG00000007264
17,147
ENSG00000007264
17,473
17,147
ENSG00000007264
distal
NA
NA
19
3,831,451
G
A
false
missense_variant
1,037
rs2240232
0.000499
0.39812
85.561
missense_variant
missense_variant
ENSG00000105278
0
ENSG00000105278
0
0
ENSG00000105278
missense_variant
ENSG00000105278
24,138
ENSG00000007264
29,647
24,138
ENSG00000105278
missense_variant
NA
NA
19
3,831,527
C
A
false
missense_variant
1,037
rs2240233
0.000511
0.39806
85.633
missense_variant
missense_variant
ENSG00000105278
0
ENSG00000105278
0
0
ENSG00000105278
missense_variant
ENSG00000105278
24,062
ENSG00000007264
29,723
24,062
ENSG00000105278
missense_variant
NA
NA
19
3,831,767
G
A
false
missense_variant
1,037
rs2240235
0.000658
0.39802
85.782
missense_variant
missense_variant
ENSG00000105278
0
ENSG00000105278
0
0
ENSG00000105278
missense_variant
ENSG00000105278
23,822
ENSG00000007264
29,963
23,822
ENSG00000105278
missense_variant
NA
NA
19
3,925,033
G
C
false
3_prime_UTR_variant
1,115
rs117035326
0.000261
0.006691
14.017
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000167654
0
ENSG00000167654
35
0
ENSG00000167654
3_prime_UTR_variant
ENSG00000077009
8,035
ENSG00000167654
249
249
ENSG00000167654
3_prime_UTR_variant
NA
NA
19
3,925,463
T
G
false
3_prime_UTR_variant
1,115
rs183948049
0.00029
0.006644
13.976
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000167654
0
ENSG00000167654
0
0
ENSG00000167654
3_prime_UTR_variant
ENSG00000077009
7,605
ENSG00000167654
179
179
ENSG00000167654
3_prime_UTR_variant
NA
NA
19
3,925,782
G
A
false
3_prime_UTR_variant
1,115
rs143684746
0.000452
0.009702
11.653
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000167654
0
ENSG00000167654
60
0
ENSG00000167654
3_prime_UTR_variant
ENSG00000077009
7,286
ENSG00000167654
498
498
ENSG00000167654
3_prime_UTR_variant
NA
NA
19
3,925,785
T
A
false
3_prime_UTR_variant
1,115
rs192536222
0.00096
0.008548
10.098
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000167654
0
ENSG00000167654
63
0
ENSG00000167654
3_prime_UTR_variant
ENSG00000077009
7,283
ENSG00000167654
501
501
ENSG00000167654
3_prime_UTR_variant
NA
NA
19
3,960,022
C
T
false
missense_variant
1,034
rs2304193
0.005425
0.17181
28.087
missense_variant
missense_variant
ENSG00000167657
0
ENSG00000167657
36
0
ENSG00000167657
missense_variant
ENSG00000167657
1,136
ENSG00000283928
1,489
1,136
ENSG00000167657
missense_variant
NA
NA
19
3,982,969
G
A
false
synonymous_variant
1,059
rs2230561
0.002995
0.097571
81.533
synonymous_variant
synonymous_variant
ENSG00000167658
0
ENSG00000167658
284
0
ENSG00000167658
synonymous_variant
ENSG00000167658
2,493
ENSG00000206775
396
396
ENSG00000206775
synonymous_variant
NA
NA
19
3,994,839
C
T
false
distal
1,051
rs558247690
0.000304
0.023293
18.572
intergenic_variant
dELS_flank
ENSG00000167658
9,375
ENSG00000167658
9,375
9,375
ENSG00000167658
dELS_flank
ENSG00000167658
9,375
ENSG00000167658
9,375
9,375
ENSG00000167658
distal
NA
NA
19
4,010,038
A
G
false
distal
1,091
rs189434310
0.000386
0.007585
15.751
intron_variant
dELS
ENSG00000105229
2,250
ENSG00000105229
2,250
2,250
ENSG00000105229
dELS
ENSG00000105229
2,301
ENSG00000105229
2,279
2,279
ENSG00000105229
distal
NA
NA
19
4,030,777
A
G
false
distal
1,042
rs8109122
0.003345
0.06586
90.643
intron_variant
dELS_flank
ENSG00000105229
1,740
ENSG00000105229
1,962
1,740
ENSG00000105229
dELS_flank
ENSG00000105229
23,040
ENSG00000105229
2,315
2,315
ENSG00000105229
distal
NA
NA
19
4,152,562
A
C
false
distal
996
rs74674350
0.003688
0.079734
34.49
intergenic_variant
pELS_flank
ENSG00000060566
1,068
ENSG00000060566
11,880
1,068
ENSG00000060566
pELS_flank
ENSG00000060566
1,068
ENSG00000060566
11,880
1,068
ENSG00000060566
distal
NA
NA
19
4,198,157
C
T
false
synonymous_variant
1,058
rs1963331
0.000121
0.42407
65.322
synonymous_variant
synonymous_variant
ENSG00000089847
0
ENSG00000089847
253
0
ENSG00000089847
synonymous_variant
ENSG00000089847
16
ENSG00000089847
253
16
ENSG00000089847
synonymous_variant
NA
NA
19
4,292,901
C
G
false
splicing
1,132
rs55767880
0.000308
0.19644
26.995
splice_polypyrimidine_tract_variant
splice_polypyrimidine_tract_variant
ENSG00000167664
15
ENSG00000105251
2,247
15
ENSG00000167664
splice_polypyrimidine_tract_variant
ENSG00000167664
9,483
ENSG00000105251
4,708
4,708
ENSG00000105251
splicing
NA
splicing:b1
19
4,294,810
G
A
false
missense_variant
1,023
rs78320454
0.00012
0.15756
37.745
missense_variant
missense_variant
ENSG00000167664
0
ENSG00000105251
4,156
0
ENSG00000167664
missense_variant
ENSG00000167664
7,574
ENSG00000105251
6,617
6,617
ENSG00000105251
missense_variant
NA
NA
19
4,325,436
G
A
false
synonymous_variant
1,061
rs1138253
0.000448
0.44545
42.912
synonymous_variant
synonymous_variant
ENSG00000178078
0
ENSG00000178078
0
0
ENSG00000178078
synonymous_variant
ENSG00000178078
1,515
ENSG00000178078
1,933
1,515
ENSG00000178078
synonymous_variant
NA
NA
19
4,338,264
G
A
false
missense_variant
1,032
rs62129337
0.00299
0.035231
20.452
missense_variant
missense_variant
ENSG00000178078
387
ENSG00000178078
0
0
ENSG00000178078
missense_variant
ENSG00000178078
544
ENSG00000269425
1,312
544
ENSG00000178078
missense_variant
NA
NA
19
4,351,601
G
A
false
distal
1,076
rs73539222
0.006466
0.43532
113.04
intron_variant
dELS
ENSG00000008382
1,295
ENSG00000008382
1,295
1,295
ENSG00000008382
dELS
ENSG00000008382
1,388
ENSG00000269807
2,455
1,388
ENSG00000008382
distal
NA
NA
19
4,354,551
T
C
false
missense_variant
1,017
rs147586556
0.000157
0.022566
16.6
missense_variant
missense_variant
ENSG00000008382
0
ENSG00000008382
130
0
ENSG00000008382
missense_variant
ENSG00000008382
397
ENSG00000269807
493
397
ENSG00000008382
missense_variant
NA
NA
19
4,430,074
A
C
false
non_coding_transcript_exon_variant
981
rs78744466
0.003019
0.040891
20.823
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000167670
285
ENSG00000267255
0
0
ENSG00000267255
non_coding_transcript_exon_variant
ENSG00000167670
12,179
ENSG00000267255
859
859
ENSG00000267255
non_coding_transcript_exon_variant
NA
NA
19
4,445,076
A
G
false
3_prime_UTR_variant
1,106
rs2705
0.009173
0.45507
132.83
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000167671
0
ENSG00000167671
0
0
ENSG00000167671
3_prime_UTR_variant
ENSG00000167670
2,821
ENSG00000266437
901
901
ENSG00000266437
3_prime_UTR_variant
NA
NA
19
4,445,159
A
G
false
3_prime_UTR_variant
1,106
rs243387
0.008905
0.45514
132.77
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000167671
0
ENSG00000167671
0
0
ENSG00000167671
3_prime_UTR_variant
ENSG00000167670
2,904
ENSG00000266437
818
818
ENSG00000266437
3_prime_UTR_variant
NA
NA
19
4,474,728
C
A
true
tss_proximal
986
rs76608582
0.95789
Smoking_Ever_Never
0.047655
21.068
intron_variant
dELS
ENSG00000167674
163
ENSG00000167674
546
163
ENSG00000167674
tss_proximal
ENSG00000167674
163
ENSG00000167674
620
163
ENSG00000167674
tss_proximal
tss_prox:b1
tss_prox:b1
19
4,502,189
T
C
true
3_prime_UTR_variant
1,104
rs8887
1
MCH,MCHC,MCV,RBC
0.42688
85.146
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000167674
0
ENSG00000167674
0
0
ENSG00000167674
3_prime_UTR_variant
ENSG00000167674
2,559
ENSG00000214456
23,659
2,559
ENSG00000167674
3_prime_UTR_variant
NA
NA
19
4,513,547
A
G
false
missense_variant
1,004
rs4807597
0.000474
0.05188
17.434
missense_variant
missense_variant
ENSG00000167676
0
ENSG00000214456
10,361
0
ENSG00000167676
missense_variant
ENSG00000167676
4,917
ENSG00000214456
12,301
4,917
ENSG00000167676
missense_variant
NA
NA
19
4,558,419
C
G
false
synonymous_variant
1,061
rs2304213
0.002891
0.44549
33.34
synonymous_variant
synonymous_variant
ENSG00000167680
0
ENSG00000167680
0
0
ENSG00000167680
synonymous_variant
ENSG00000167680
37
ENSG00000167680
69
37
ENSG00000167680
synonymous_variant
NA
NA
19
4,564,665
C
T
false
distal
1,043
rs183470976
0.003163
0.006875
16.035
intron_variant
dELS_flank
ENSG00000167680
4,980
ENSG00000167680
6,175
4,980
ENSG00000167680
dELS_flank
ENSG00000167680
4,980
ENSG00000167680
6,175
4,980
ENSG00000167680
distal
NA
NA
19
4,591,424
C
T
false
distal
1,085
rs4806990
0.000461
0.44173
56.916
intergenic_variant
dELS
ENSG00000167680
9,647
ENSG00000267408
29,769
9,647
ENSG00000167680
dELS
ENSG00000167680
9,647
ENSG00000267408
29,769
9,647
ENSG00000167680
distal
NA
NA
19
4,647,219
T
C
false
distal
1,090
rs10417957
0.002388
0.23941
55.901
intron_variant
dELS
ENSG00000185361
4,647
ENSG00000185361
4,736
4,647
ENSG00000185361
dELS
ENSG00000185361
7,201
ENSG00000185361
7,681
7,201
ENSG00000185361
distal
NA
NA
19
4,689,182
C
T
false
tss_proximal
1,095
rs116846336
0.000482
0.007277
14.37
intron_variant
dELS_flank
ENSG00000142002
289
ENSG00000142002
289
289
ENSG00000142002
tss_proximal
ENSG00000074842
18,819
ENSG00000142002
378
378
ENSG00000142002
tss_proximal
tss_prox:b2
tss_prox:b1
19
4,691,185
C
T
false
tss_proximal
1,095
rs62113866
0.000111
0.007704
12.834
intron_variant
pELS
ENSG00000142002
227
ENSG00000142002
227
227
ENSG00000142002
tss_proximal
ENSG00000074842
20,822
ENSG00000142002
278
278
ENSG00000142002
tss_proximal
tss_prox:b2
tss_prox:b1
19
4,701,715
C
T
false
distal
1,082
rs75029446
0.00031
0.019902
54.518
intron_variant
dELS
ENSG00000142002
311
ENSG00000142002
311
311
ENSG00000142002
dELS
ENSG00000142002
12,590
ENSG00000142002
2,435
2,435
ENSG00000142002
distal
NA
NA
19
4,714,263
G
A
false
missense_variant
1,005
rs147966989
0.002789
0.019428
13.836
missense_variant
missense_variant
ENSG00000142002
0
ENSG00000142002
0
0
ENSG00000142002
missense_variant
ENSG00000142002
42
ENSG00000142002
42
42
ENSG00000142002
missense_variant
NA
NA
19
4,719,431
G
A
false
distal
1,038
rs2109069
0.000761
0.32483
47.032
intron_variant
dELS_flank
ENSG00000142002
419
ENSG00000142002
106
106
ENSG00000142002
dELS_flank
ENSG00000142002
3,346
ENSG00000142002
1,542
1,542
ENSG00000142002
distal
NA
NA
19
4,719,473
G
C
false
distal
1,038
rs2109070
0.00072
0.32484
47.03
intron_variant
dELS_flank
ENSG00000142002
377
ENSG00000142002
144
144
ENSG00000142002
dELS_flank
ENSG00000142002
3,304
ENSG00000142002
1,584
1,584
ENSG00000142002
distal
NA
NA
19
4,733,155
C
T
false
distal
1,121
rs12463038
0.000478
0.0937
19.567
intergenic_variant
CA-H3K4me3_flank
ENSG00000142002
9,311
ENSG00000142002
8,481
8,481
ENSG00000142002
CA-H3K4me3_flank
ENSG00000142002
9,311
ENSG00000142002
8,481
8,481
ENSG00000142002
distal
NA
NA
19
4,735,886
C
T
false
distal
1,133
rs35335727
0.001679
0.23233
45.951
intergenic_variant
intergenic_variant
ENSG00000142002
12,042
ENSG00000142002
11,212
11,212
ENSG00000142002
intergenic_variant
ENSG00000142002
12,042
ENSG00000142002
11,212
11,212
ENSG00000142002
distal
NA
NA
19
4,789,925
A
G
false
distal
998
rs7257281
0.000868
0.31184
87.461
intron_variant
pELS_flank
ENSG00000141965
1,808
ENSG00000268536
1,272
1,272
ENSG00000268536
pELS_flank
ENSG00000141965
1,808
ENSG00000268536
1,392
1,392
ENSG00000268536
distal
NA
NA
19
4,859,280
G
T
false
tss_proximal
992
rs188623920
0.000761
0.002846
4.5531
intron_variant
TF
ENSG00000105355
309
ENSG00000267484
20,372
309
ENSG00000105355
tss_proximal
ENSG00000105355
355
ENSG00000267484
20,947
355
ENSG00000105355
tss_proximal
tss_prox:b1
tss_prox:b1
19
5,124,237
G
A
false
distal
1,070
rs2620849
0.001029
0.31675
157.49
intron_variant
dELS
ENSG00000127663
4,384
ENSG00000127663
4,384
4,384
ENSG00000127663
dELS
ENSG00000127663
41,784
ENSG00000127663
11,298
11,298
ENSG00000127663
distal
NA
NA
19
5,261,495
G
A
false
distal
1,070
rs2238640
0.000147
0.31558
36.438
intron_variant
dELS
ENSG00000105426
672
ENSG00000105426
3,367
672
ENSG00000105426
dELS
ENSG00000105426
24,667
ENSG00000239524
16,238
16,238
ENSG00000239524
distal
NA
NA
19
5,293,572
C
A
false
tss_proximal
986
rs55763631
0.001133
0.048324
16.949
intron_variant
pELS
ENSG00000105426
319
ENSG00000274447
674
319
ENSG00000105426
tss_proximal
ENSG00000105426
319
ENSG00000274447
674
319
ENSG00000105426
tss_proximal
tss_prox:b1
tss_prox:b1
19
5,293,643
G
A
false
tss_proximal
986
rs77540740
0.00011
0.048774
21.614
intron_variant
pELS
ENSG00000105426
390
ENSG00000274447
603
390
ENSG00000105426
tss_proximal
ENSG00000105426
390
ENSG00000274447
603
390
ENSG00000105426
tss_proximal
tss_prox:b1
tss_prox:b1
19
5,296,569
G
A
false
distal
1,079
rs7254738
0.000296
0.29378
60.318
intron_variant
dELS
ENSG00000105426
3,316
ENSG00000274447
1,872
1,872
ENSG00000274447
dELS
ENSG00000105426
3,316
ENSG00000274447
2,321
2,321
ENSG00000274447
distal
NA
NA
19
5,571,534
C
T
false
distal
1,080
rs146473646
0.000626
0.014138
162.94
intron_variant
dELS
ENSG00000223573
3,499
ENSG00000233270
5,125
3,499
ENSG00000223573
dELS
ENSG00000223573
3,499
ENSG00000233270
5,403
3,499
ENSG00000223573
distal
NA
NA
19
5,635,300
C
T
false
distal
1,088
rs2485274
0.000099
0.067406
59.944
intron_variant
dELS
ENSG00000160633
6,293
ENSG00000160633
6,293
6,293
ENSG00000160633
dELS
ENSG00000130254
11,253
ENSG00000160633
6,550
6,550
ENSG00000160633
distal
NA
NA
19
5,682,904
A
G
false
distal
997
rs3097895
0.000512
0.3034
77.469
intron_variant
pELS_flank
ENSG00000167733
1,117
ENSG00000167733
1,632
1,117
ENSG00000167733
pELS_flank
ENSG00000167733
1,128
ENSG00000167733
1,734
1,128
ENSG00000167733
distal
NA
NA
19
5,765,409
C
T
false
distal
1,123
rs2446199
0.002891
0.03928
37.011
intron_variant
TF
ENSG00000174898
693
ENSG00000174898
693
693
ENSG00000174898
TF
ENSG00000212123
19,189
ENSG00000174898
9,832
9,832
ENSG00000174898
distal
NA
NA
19
5,785,438
C
T
false
missense_variant
1,021
rs12977803
0.000107
0.015865
21.088
missense_variant
missense_variant
ENSG00000141994
0
ENSG00000141994
0
0
ENSG00000141994
missense_variant
ENSG00000267157
180
ENSG00000141994
560
180
ENSG00000267157
missense_variant
NA
NA
19
5,789,342
G
C
false
missense_variant
1,002
rs202034781
0.000048
0.006869
19.175
missense_variant
missense_variant
ENSG00000141994
0
ENSG00000141994
0
0
ENSG00000141994
missense_variant
ENSG00000141994
922
ENSG00000141994
1,165
922
ENSG00000141994
missense_variant
NA
NA
19
5,831,661
G
C
false
missense_variant
1,031
rs61147939
0.000079
0.071983
47.297
missense_variant
missense_variant
ENSG00000156413
0
ENSG00000289543
2,371
0
ENSG00000156413
missense_variant
ENSG00000156413
905
ENSG00000289543
3,325
905
ENSG00000156413
missense_variant
NA
NA
19
5,849,655
C
T
false
tss_proximal
990
rs28742587
0.000265
0.022439
34.648
intron_variant
pELS_flank
ENSG00000171124
749
ENSG00000171124
109
109
ENSG00000171124
tss_proximal
ENSG00000171124
749
ENSG00000171124
663
663
ENSG00000171124
tss_proximal
tss_prox:b1
tss_prox:b1
19
5,874,848
G
A
false
distal
1,084
rs1678856
0.000197
0.45959
111.3
intergenic_variant
dELS
ENSG00000130383
4,307
ENSG00000267740
4,224
4,224
ENSG00000267740
dELS
ENSG00000130383
4,307
ENSG00000174886
21,832
4,307
ENSG00000130383
distal
NA
NA
19
5,876,569
G
A
false
distal
1,084
rs1612621
0.0002
0.45929
111.67
intergenic_variant
dELS
ENSG00000130383
6,028
ENSG00000267740
5,945
5,945
ENSG00000267740
dELS
ENSG00000130383
6,028
ENSG00000174886
20,111
6,028
ENSG00000130383
distal
NA
NA
19
5,876,818
G
A
false
distal
1,084
rs1614492
0.000278
0.45387
100.83
intergenic_variant
dELS
ENSG00000130383
6,277
ENSG00000267740
6,194
6,194
ENSG00000267740
dELS
ENSG00000130383
6,277
ENSG00000174886
19,862
6,277
ENSG00000130383
distal
NA
NA
19
5,908,957
C
T
false
missense_variant
1,013
rs137868133
0.000047
0.002988
17.026
missense_variant
missense_variant
ENSG00000187650
0
ENSG00000267571
2,620
0
ENSG00000187650
missense_variant
ENSG00000105519
3,381
ENSG00000267314
4,115
3,381
ENSG00000105519
missense_variant
NA
NA
19
5,914,459
G
A
false
missense_variant
1,005
rs143117009
0.000109
0.01776
29.174
missense_variant
missense_variant
ENSG00000105519
0
ENSG00000267314
0
0
ENSG00000105519
missense_variant
ENSG00000105519
185
ENSG00000105519
186
185
ENSG00000105519
missense_variant
NA
NA
19
5,995,197
G
A
false
distal
1,082
rs142854181
0.000049
0.014939
23.441
intron_variant
dELS
ENSG00000087903
246
ENSG00000087903
246
246
ENSG00000087903
dELS
ENSG00000087903
13,028
ENSG00000087903
2,175
2,175
ENSG00000087903
distal
NA
NA
19
6,144,182
G
T
false
distal
1,123
rs112347922
0.000329
0.029228
172.5
intron_variant
TF
ENSG00000130377
2,571
ENSG00000130377
2,571
2,571
ENSG00000130377
TF
ENSG00000130377
8,498
ENSG00000130377
8,480
8,480
ENSG00000130377
distal
NA
NA
19
6,144,347
A
G
false
distal
1,123
rs76981848
0.000333
0.029227
172.52
intron_variant
TF
ENSG00000130377
2,736
ENSG00000130377
2,736
2,736
ENSG00000130377
TF
ENSG00000130377
8,663
ENSG00000130377
8,645
8,645
ENSG00000130377
distal
NA
NA
19
6,201,465
C
T
false
distal
1,050
rs544903706
0.000067
0.003478
18.356
intron_variant
dELS_flank
ENSG00000087903
1,935
ENSG00000087903
1,892
1,892
ENSG00000087903
dELS_flank
ENSG00000087903
1,935
ENSG00000087903
1,892
1,892
ENSG00000087903
distal
NA
NA
19
6,213,332
G
A
false
splicing
1,119
rs374460061
0.000054
0.000018
1.0072
splice_donor_5th_base_variant
splice_donor_5th_base_variant
ENSG00000130382
4
ENSG00000130382
4
4
ENSG00000130382
splice_donor_5th_base_variant
ENSG00000087903
13,802
ENSG00000130382
1,855
1,855
ENSG00000130382
splicing
NA
splicing:b0
19
6,258,063
G
A
true
distal
1,116
rs34263337
0.962935
Mono
0.14257
25.433
intron_variant
pELS
ENSG00000130382
4,164
ENSG00000267563
1,093
1,093
ENSG00000267563
pELS
ENSG00000130382
21,911
ENSG00000267563
1,093
1,093
ENSG00000267563
distal
NA
NA
19
6,333,279
T
C
false
tss_proximal
983
rs2335192
0.000061
0.30933
41.672
intron_variant
PLS_flank
ENSG00000167769
179
ENSG00000269802
10,481
179
ENSG00000167769
tss_proximal
ENSG00000167769
332
ENSG00000125656
28,285
332
ENSG00000167769
tss_proximal
tss_prox:b1
tss_prox:b1
19
6,356,918
C
T
false
distal
1,053
rs80100254
0.000226
0.017836
84.072
intron_variant
dELS_flank
ENSG00000125656
4,612
ENSG00000269802
3,244
3,244
ENSG00000269802
dELS_flank
ENSG00000125656
4,612
ENSG00000125656
4,646
4,612
ENSG00000125656
distal
NA
NA
19
6,433,618
G
C
false
missense_variant
1,017
rs117420388
0.000067
0.021495
69.003
missense_variant
missense_variant
ENSG00000181240
0
ENSG00000181240
0
0
ENSG00000181240
missense_variant
ENSG00000181240
144
ENSG00000181240
143
143
ENSG00000181240
missense_variant
NA
NA
19
6,467,899
T
C
false
missense_variant
1,032
rs35173535
0.000193
0.029716
30.168
missense_variant
missense_variant
ENSG00000205744
0
ENSG00000205744
0
0
ENSG00000205744
missense_variant
ENSG00000125648
2,695
ENSG00000275234
1,565
1,565
ENSG00000275234
missense_variant
NA
NA
19
6,468,320
T
C
true
missense_variant
1,003
rs62107586
0.954785
Mono
0.44975
45.554
missense_variant
missense_variant
ENSG00000205744
0
ENSG00000205744
0
0
ENSG00000205744
missense_variant
ENSG00000125648
3,116
ENSG00000275234
1,144
1,144
ENSG00000275234
missense_variant
NA
NA
19
6,481,530
G
A
false
tss_proximal
991
rs3852882
0.000078
0.003772
13.385
intron_variant
PLS_flank
ENSG00000205744
119
ENSG00000205744
148
119
ENSG00000205744
tss_proximal
ENSG00000205744
222
ENSG00000205744
243
222
ENSG00000205744
tss_proximal
tss_prox:b1
tss_prox:b1
19
6,494,464
A
T
false
3_prime_UTR_variant
1,115
rs73920690
0.000061
0.007637
6.7835
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000104833
0
ENSG00000268203
0
0
ENSG00000104833
3_prime_UTR_variant
ENSG00000104833
7,322
ENSG00000268203
143
143
ENSG00000268203
3_prime_UTR_variant
NA
NA
19
6,531,978
G
A
false
tss_proximal
992
rs186470493
0.000077
0.006386
8.7762
intron_variant
pELS_flank
ENSG00000125657
674
ENSG00000268742
20,379
674
ENSG00000125657
tss_proximal
ENSG00000125657
951
ENSG00000268742
22,515
951
ENSG00000125657
tss_proximal
tss_prox:b1
tss_prox:b1
19
6,532,025
G
T
false
tss_proximal
992
rs183116138
0.000047
0.004454
8.5569
intron_variant
pELS_flank
ENSG00000125657
721
ENSG00000268742
20,332
721
ENSG00000125657
tss_proximal
ENSG00000125657
998
ENSG00000268742
22,468
998
ENSG00000125657
tss_proximal
tss_prox:b1
tss_prox:b1
19
6,571,780
G
A
false
distal
999
rs4807879
0.000229
0.22366
30.931
intergenic_variant
pELS_flank
ENSG00000125726
11,402
ENSG00000199223
1,175
1,175
ENSG00000199223
pELS_flank
ENSG00000125726
19,358
ENSG00000199223
1,276
1,276
ENSG00000199223
distal
NA
NA
19
6,575,017
C
T
false
distal
1,116
rs111269102
0.000338
0.14977
47.35
intergenic_variant
pELS
ENSG00000125726
8,165
ENSG00000199223
1,959
1,959
ENSG00000199223
pELS
ENSG00000125726
16,121
ENSG00000199223
1,959
1,959
ENSG00000199223
distal
NA
NA
19
6,579,778
G
A
false
distal
1,092
rs12977027
0.000064
0.078044
36.601
intergenic_variant
dELS
ENSG00000125726
3,404
ENSG00000199223
6,720
3,404
ENSG00000125726
dELS
ENSG00000125726
11,360
ENSG00000199223
6,720
6,720
ENSG00000199223
distal
NA
NA
19
6,595,768
G
A
false
distal
1,040
rs168259
0.000651
0.13334
42.427
intron_variant
dELS_flank
ENSG00000125726
3,192
ENSG00000268785
1,712
1,712
ENSG00000268785
dELS_flank
ENSG00000125726
4,617
ENSG00000268785
2,438
2,438
ENSG00000268785
distal
NA
NA