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
11
116,824,222
A
G
false
tss_proximal
380
rs10892035
0.000205
0.15594
231.42
upstream_gene_variant
TF_flank
ENSG00000110244
917
ENSG00000285513
2,680
917
ENSG00000110244
tss_proximal
ENSG00000110244
917
ENSG00000285513
3,576
917
ENSG00000110244
tss_proximal
tss_prox:b1
tss_prox:b1
11
116,830,061
G
C
true
tss_proximal
378
rs618354
0.99462
ApoA
0.24373
121
intron_variant
PLS
ENSG00000110245
120
ENSG00000110245
120
120
ENSG00000110245
tss_proximal
ENSG00000110245
145
ENSG00000110245
138
138
ENSG00000110245
tss_proximal
tss_prox:b1
tss_prox:b1
11
116,830,844
G
A
true
missense_variant
313
rs147210663
1
HDLC,TG
0.000398
1.9125
missense_variant
missense_variant
ENSG00000110245
0
ENSG00000110245
0
0
ENSG00000110245
missense_variant
ENSG00000110245
314
ENSG00000110245
921
314
ENSG00000110245
missense_variant
NA
NA
11
116,834,562
C
T
true
distal
346
rs12721030
1
ApoA,HDLC
0.193
293.16
intergenic_variant
pELS_flank
ENSG00000118137
1,188
ENSG00000235910
1,554
1,188
ENSG00000118137
pELS_flank
ENSG00000118137
3,023
ENSG00000235910
1,554
1,554
ENSG00000235910
distal
NA
NA
11
116,834,800
G
A
true
distal
347
rs525028
0.994815
TC
0.29053
296.03
downstream_gene_variant
pELS_flank
ENSG00000118137
950
ENSG00000235910
1,316
950
ENSG00000118137
pELS_flank
ENSG00000118137
2,785
ENSG00000235910
1,316
1,316
ENSG00000235910
distal
NA
NA
11
116,840,252
A
G
true
distal
339
rs613808
1
ApoA
0.28246
316.27
intron_variant
dELS
ENSG00000118137
2,629
ENSG00000160584
3,149
2,629
ENSG00000118137
dELS
ENSG00000118137
2,629
ENSG00000235910
4,085
2,629
ENSG00000118137
distal
NA
NA
11
116,841,909
G
A
false
distal
366
rs529170795
0.000037
0.02369
154.61
intron_variant
dELS_flank
ENSG00000160584
1,492
ENSG00000160584
1,492
1,492
ENSG00000160584
dELS_flank
ENSG00000118137
4,286
ENSG00000235910
5,742
4,286
ENSG00000118137
distal
NA
NA
11
116,841,910
C
T
false
distal
366
rs549298766
0.000037
0.023688
154.6
intron_variant
dELS_flank
ENSG00000160584
1,491
ENSG00000160584
1,491
1,491
ENSG00000160584
dELS_flank
ENSG00000118137
4,287
ENSG00000235910
5,743
4,287
ENSG00000118137
distal
NA
NA
11
116,841,911
C
G
false
distal
366
rs562451538
0.000037
0.023689
154.6
intron_variant
dELS_flank
ENSG00000160584
1,490
ENSG00000160584
1,490
1,490
ENSG00000160584
dELS_flank
ENSG00000118137
4,288
ENSG00000235910
5,744
4,288
ENSG00000118137
distal
NA
NA
11
116,841,912
C
T
false
distal
366
rs531360508
0.000029
0.02422
152.21
intron_variant
dELS_flank
ENSG00000160584
1,489
ENSG00000160584
1,489
1,489
ENSG00000160584
dELS_flank
ENSG00000118137
4,289
ENSG00000235910
5,745
4,289
ENSG00000118137
distal
NA
NA
11
117,001,243
C
T
false
distal
362
rs142848030
0.000611
0.019697
20.496
intron_variant
dELS_flank
ENSG00000160584
44,178
ENSG00000200537
14,653
14,653
ENSG00000200537
dELS_flank
ENSG00000160584
44,198
ENSG00000200537
14,653
14,653
ENSG00000200537
distal
NA
NA
11
117,001,941
A
C
false
distal
362
rs76919167
0.006857
0.031909
307.61
intron_variant
dELS_flank
ENSG00000160584
44,876
ENSG00000200537
13,955
13,955
ENSG00000200537
dELS_flank
ENSG00000160584
44,896
ENSG00000200537
13,955
13,955
ENSG00000200537
distal
NA
NA
11
117,002,472
T
C
false
distal
362
rs75216082
0.00805
0.031913
307.63
intron_variant
dELS_flank
ENSG00000160584
45,407
ENSG00000200537
13,424
13,424
ENSG00000200537
dELS_flank
ENSG00000160584
45,427
ENSG00000200537
13,424
13,424
ENSG00000200537
distal
NA
NA
11
117,081,210
T
C
false
distal
338
rs80068626
0.009931
0.031943
307.34
intron_variant
dELS
ENSG00000160584
16,932
ENSG00000160584
16,932
16,932
ENSG00000160584
dELS
ENSG00000160584
17,217
ENSG00000160584
17,060
17,060
ENSG00000160584
distal
NA
NA
11
117,112,300
G
A
false
distal
332
rs113979111
0.000109
0.10071
259.21
intergenic_variant
dELS
ENSG00000160584
13,862
ENSG00000224077
4,129
4,129
ENSG00000224077
dELS
ENSG00000160584
13,862
ENSG00000225236
6,880
6,880
ENSG00000225236
distal
NA
NA
11
117,112,840
G
A
false
distal
332
rs111560312
0.00011
0.1004
258.65
intergenic_variant
dELS
ENSG00000160584
14,402
ENSG00000224077
4,669
4,669
ENSG00000224077
dELS
ENSG00000160584
14,402
ENSG00000225236
6,340
6,340
ENSG00000225236
distal
NA
NA
11
117,148,048
T
G
true
distal
365
rs539030095
1
ApoA,HDLC,TG
0.001607
13.177
intron_variant
dELS_flank
ENSG00000168092
3,629
ENSG00000168092
3,629
3,629
ENSG00000168092
dELS_flank
ENSG00000168092
3,703
ENSG00000168092
3,665
3,665
ENSG00000168092
distal
NA
NA
11
117,206,025
G
A
false
missense_variant
306
rs201598301
0.004998
0.031764
296.07
missense_variant
missense_variant
ENSG00000149591
0
ENSG00000280143
0
0
ENSG00000149591
missense_variant
ENSG00000149591
2,880
ENSG00000280143
1,057
1,057
ENSG00000280143
missense_variant
NA
NA
11
117,229,878
A
G
false
5_prime_UTR_variant
280
rs500389
0.000343
0.38943
279.3
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000160613
0
ENSG00000167257
2,824
0
ENSG00000160613
5_prime_UTR_variant
ENSG00000160613
361
ENSG00000167257
2,824
361
ENSG00000160613
5_prime_UTR_variant
NA
NA
11
117,234,734
A
G
false
tss_proximal
379
rs570023291
0.000317
0.002642
19.999
intron_variant
intron_variant
ENSG00000167257
354
ENSG00000167257
354
354
ENSG00000167257
tss_proximal
ENSG00000167257
470
ENSG00000167257
2,030
470
ENSG00000167257
tss_proximal
tss_prox:b1
tss_prox:b1
11
117,316,036
C
T
false
5_prime_UTR_variant
282
rs143346476
0.000083
0.012359
67.34
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000186318
0
ENSG00000186318
240
0
ENSG00000186318
5_prime_UTR_variant
ENSG00000186318
219
ENSG00000186318
240
219
ENSG00000186318
5_prime_UTR_variant
NA
NA
11
117,381,721
A
G
false
missense_variant
308
rs117083334
0.000025
0.0393
43.13
missense_variant
missense_variant
ENSG00000110274
0
ENSG00000110274
0
0
ENSG00000110274
missense_variant
ENSG00000110274
29,930
ENSG00000110274
1,010
1,010
ENSG00000110274
missense_variant
NA
NA
11
117,385,668
C
G
false
non_coding_transcript_exon_variant
354
rs560355
0.002756
0.37744
83.032
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000110274
1,534
ENSG00000110274
0
0
ENSG00000110274
non_coding_transcript_exon_variant
ENSG00000110274
33,877
ENSG00000110274
1,070
1,070
ENSG00000110274
non_coding_transcript_exon_variant
NA
NA
11
117,395,596
C
G
false
missense_variant
312
rs2305830
0.00048
0.30653
76.095
missense_variant
missense_variant
ENSG00000110274
0
ENSG00000110274
0
0
ENSG00000110274
missense_variant
ENSG00000110274
43,805
ENSG00000110274
10,998
10,998
ENSG00000110274
missense_variant
NA
NA
11
117,397,168
A
G
true
missense_variant
314
rs573455
0.99856
Hb,PP,RBC
0.46546
71.869
missense_variant
missense_variant
ENSG00000110274
0
ENSG00000110274
0
0
ENSG00000110274
missense_variant
ENSG00000110274
45,377
ENSG00000110274
11,848
11,848
ENSG00000110274
missense_variant
NA
NA
11
117,855,844
G
T
false
distal
330
rs77452664
0.000054
0.085381
20.452
intron_variant
dELS
ENSG00000137726
2,366
ENSG00000137726
2,366
2,366
ENSG00000137726
dELS
ENSG00000137726
13,345
ENSG00000137726
11,736
11,736
ENSG00000137726
distal
NA
NA
11
117,857,248
T
C
false
distal
330
rs2845939
0.000061
0.07629
26.111
intron_variant
dELS
ENSG00000137726
962
ENSG00000137726
962
962
ENSG00000137726
dELS
ENSG00000137726
11,941
ENSG00000137726
13,140
11,941
ENSG00000137726
distal
NA
NA
11
117,862,844
G
C
false
distal
367
rs7107910
0.000061
0.37087
53.7
intron_variant
dELS_flank
ENSG00000137726
4,557
ENSG00000137726
4,557
4,557
ENSG00000137726
dELS_flank
ENSG00000137726
6,345
ENSG00000137726
13,798
6,345
ENSG00000137726
distal
NA
NA
11
117,863,810
A
G
false
distal
367
rs4938443
0.000069
0.36764
53.032
intron_variant
dELS_flank
ENSG00000137726
5,088
ENSG00000137726
5,523
5,088
ENSG00000137726
dELS_flank
ENSG00000137726
5,379
ENSG00000137726
12,832
5,379
ENSG00000137726
distal
NA
NA
11
117,863,811
C
A
false
distal
367
rs4938444
0.000069
0.3676
53.031
intron_variant
dELS_flank
ENSG00000137726
5,087
ENSG00000137726
5,524
5,087
ENSG00000137726
dELS_flank
ENSG00000137726
5,378
ENSG00000137726
12,831
5,378
ENSG00000137726
distal
NA
NA
11
117,904,080
C
T
false
missense_variant
303
rs200481694
0.000115
0.000801
2.8779
missense_variant
missense_variant
ENSG00000137747
0
ENSG00000137747
6,489
0
ENSG00000137747
missense_variant
ENSG00000137747
25,300
ENSG00000137747
25,316
25,300
ENSG00000137747
missense_variant
NA
NA
11
117,905,648
C
A
false
missense_variant
303
rs201556502
0.000073
0.000402
2.8593
missense_variant
missense_variant
ENSG00000137747
0
ENSG00000137747
4,921
0
ENSG00000137747
missense_variant
ENSG00000137747
23,732
ENSG00000137747
23,748
23,732
ENSG00000137747
missense_variant
NA
NA
11
117,989,590
G
A
false
missense_variant
291
rs4252303
0.000122
0.012339
19.998
missense_variant
missense_variant
ENSG00000110324
0
ENSG00000110324
0
0
ENSG00000110324
missense_variant
ENSG00000110324
3,195
ENSG00000110324
155
155
ENSG00000110324
missense_variant
NA
NA
11
118,017,042
C
T
false
distal
356
rs2512152
0.000258
0.2886
55.56
intron_variant
dELS_flank
ENSG00000255274
1,232
ENSG00000255274
1,232
1,232
ENSG00000255274
dELS_flank
ENSG00000110324
30,647
ENSG00000110324
23,983
23,983
ENSG00000110324
distal
NA
NA
11
118,086,916
G
C
false
5_prime_UTR_variant
279
rs589488
0.000079
0.072478
71.272
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000255274
0
ENSG00000255274
122
0
ENSG00000255274
5_prime_UTR_variant
ENSG00000255274
46
ENSG00000255274
122
46
ENSG00000255274
5_prime_UTR_variant
NA
NA
11
118,094,367
G
A
false
tss_proximal
375
rs1080620
0.000686
0.34282
116.19
intron_variant
TF_flank
ENSG00000137648
448
ENSG00000137648
453
448
ENSG00000137648
tss_proximal
ENSG00000137648
4,675
ENSG00000137648
453
453
ENSG00000137648
tss_proximal
tss_prox:b2
tss_prox:b1
11
118,094,390
A
G
false
tss_proximal
375
rs1080619
0.000703
0.34281
116.19
intron_variant
TF_flank
ENSG00000137648
425
ENSG00000137648
430
425
ENSG00000137648
tss_proximal
ENSG00000137648
4,652
ENSG00000137648
430
430
ENSG00000137648
tss_proximal
tss_prox:b2
tss_prox:b1
11
118,161,513
T
C
false
distal
370
rs688563
0.000737
0.49935
68.399
intergenic_variant
intergenic_variant
ENSG00000149575
1,292
ENSG00000149575
5,025
1,292
ENSG00000149575
intergenic_variant
ENSG00000177098
8,624
ENSG00000149575
10,145
8,624
ENSG00000177098
distal
NA
NA
11
118,161,527
C
A
false
distal
370
rs688587
0.00063
0.49881
68.308
intergenic_variant
intergenic_variant
ENSG00000149575
1,278
ENSG00000149575
5,011
1,278
ENSG00000149575
intergenic_variant
ENSG00000177098
8,638
ENSG00000149575
10,131
8,638
ENSG00000177098
distal
NA
NA
11
118,170,387
G
A
false
missense_variant
306
rs10892222
0.000384
0.033485
69.405
missense_variant
missense_variant
ENSG00000149575
1,635
ENSG00000149575
0
0
ENSG00000149575
missense_variant
ENSG00000149575
6,251
ENSG00000149575
1,271
1,271
ENSG00000149575
missense_variant
NA
NA
11
118,210,555
C
T
true
missense_variant
315
rs143034248
1
Mono,Neutro,WBC
0.005205
12.315
missense_variant
missense_variant
ENSG00000160593
0
ENSG00000160593
0
0
ENSG00000160593
missense_variant
ENSG00000160593
2,329
ENSG00000255163
1,343
1,343
ENSG00000255163
missense_variant
NA
NA
11
118,215,285
G
A
true
tss_proximal
379
rs541897906
0.93307
Neutro
0.001763
8.9522
intron_variant
PLS_flank
ENSG00000160593
393
ENSG00000160593
398
393
ENSG00000160593
tss_proximal
ENSG00000160593
393
ENSG00000160593
1,928
393
ENSG00000160593
tss_proximal
tss_prox:b1
tss_prox:b1
11
118,223,646
A
G
false
tss_proximal
382
rs77350377
0.000046
0.00907
20.958
intron_variant
pELS
ENSG00000160593
352
ENSG00000160593
1,294
352
ENSG00000160593
tss_proximal
ENSG00000160593
440
ENSG00000160593
1,347
440
ENSG00000160593
tss_proximal
tss_prox:b1
tss_prox:b1
11
118,224,041
T
C
false
5_prime_UTR_variant
283
rs12275955
0.000376
0.20734
134.9
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000160593
0
ENSG00000160593
899
0
ENSG00000160593
5_prime_UTR_variant
ENSG00000160593
45
ENSG00000160593
952
45
ENSG00000160593
5_prime_UTR_variant
NA
NA
11
118,265,258
T
G
true
non_coding_transcript_exon_variant
353
rs12798851
0.99815
RBC,UA
0.1324
55.591
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000149573
721
ENSG00000280032
0
0
ENSG00000280032
non_coding_transcript_exon_variant
ENSG00000149573
721
ENSG00000280032
664
664
ENSG00000280032
non_coding_transcript_exon_variant
NA
NA
11
118,395,808
C
T
true
distal
366
rs78799967
0.954955
PP
0.026472
25.948
intron_variant
dELS_flank
ENSG00000110344
505
ENSG00000254873
1,286
505
ENSG00000110344
dELS_flank
ENSG00000167283
5,537
ENSG00000254873
5,500
5,500
ENSG00000254873
distal
NA
NA
11
118,432,186
T
C
false
3_prime_UTR_variant
393
rs510997
0.001792
0.12846
154.76
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000167283
0
ENSG00000255384
934
0
ENSG00000167283
3_prime_UTR_variant
ENSG00000118058
4,269
ENSG00000255384
3,019
3,019
ENSG00000255384
3_prime_UTR_variant
NA
NA
11
118,447,192
C
T
false
distal
387
rs528056
0.001989
0.098243
127.37
intron_variant
intron_variant
ENSG00000118058
432
ENSG00000118058
8,018
432
ENSG00000118058
intron_variant
ENSG00000118058
10,678
ENSG00000118058
9,999
9,999
ENSG00000118058
distal
NA
NA
11
118,494,495
G
C
true
tss_proximal
404
rs9332817
0.9104
SHBG
0.026437
42.049
intron_variant
dELS_flank
ENSG00000118058
96
ENSG00000118058
96
96
ENSG00000118058
tss_proximal
ENSG00000118058
1,381
ENSG00000118058
695
695
ENSG00000118058
tss_proximal
tss_prox:b2
tss_prox:b0
11
118,655,873
G
A
false
missense_variant
295
rs148871740
0.000371
0.007354
21.274
missense_variant
missense_variant
ENSG00000019144
0
ENSG00000019144
182
0
ENSG00000019144
missense_variant
ENSG00000118094
23,776
ENSG00000019144
5,271
5,271
ENSG00000019144
missense_variant
NA
NA
11
118,791,494
G
C
false
non_coding_transcript_exon_variant
353
rs4508234
0.004375
0.13077
199.62
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000110367
329
ENSG00000278376
0
0
ENSG00000278376
non_coding_transcript_exon_variant
ENSG00000110367
329
ENSG00000278376
291
291
ENSG00000278376
non_coding_transcript_exon_variant
NA
NA
11
118,791,631
A
T
false
non_coding_transcript_exon_variant
353
rs5006102
0.004121
0.13078
199.62
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000110367
466
ENSG00000278376
0
0
ENSG00000278376
non_coding_transcript_exon_variant
ENSG00000110367
466
ENSG00000278376
428
428
ENSG00000278376
non_coding_transcript_exon_variant
NA
NA
11
118,883,644
C
A
true
tss_proximal
380
rs630923
0.989455
NAP
0.15178
51.931
upstream_gene_variant
PLS
ENSG00000160683
247
ENSG00000245869
2,196
247
ENSG00000160683
tss_proximal
ENSG00000160683
247
ENSG00000245869
4,097
247
ENSG00000160683
tss_proximal
tss_prox:b1
tss_prox:b1
11
118,894,574
G
A
true
missense_variant
316
rs665648
0.99944
AG,NAP
0.019559
13.118
missense_variant
missense_variant
ENSG00000160683
0
ENSG00000186174
5,362
0
ENSG00000160683
missense_variant
ENSG00000160683
10,681
ENSG00000245869
6,831
6,831
ENSG00000245869
missense_variant
NA
NA
11
118,901,451
G
A
false
synonymous_variant
286
rs61730467
0.000932
0.025135
25.351
synonymous_variant
synonymous_variant
ENSG00000186174
0
ENSG00000186174
689
0
ENSG00000186174
synonymous_variant
ENSG00000186174
9,452
ENSG00000186174
7,173
7,173
ENSG00000186174
synonymous_variant
NA
NA
11
118,902,729
C
T
false
synonymous_variant
286
rs35346926
0.000085
0.027436
30.066
synonymous_variant
synonymous_variant
ENSG00000186174
0
ENSG00000186174
44
0
ENSG00000186174
synonymous_variant
ENSG00000186174
8,174
ENSG00000186174
5,895
5,895
ENSG00000186174
synonymous_variant
NA
NA
11
119,015,407
C
T
false
synonymous_variant
285
rs10111
0.000403
0.22796
122.65
synonymous_variant
synonymous_variant
ENSG00000186166
0
ENSG00000186166
0
0
ENSG00000186166
synonymous_variant
ENSG00000118181
2,935
ENSG00000186166
1,340
1,340
ENSG00000186166
synonymous_variant
NA
NA
11
119,027,660
T
A
false
missense_variant
315
rs34203644
0.0002
0.006169
14.006
missense_variant
missense_variant
ENSG00000137700
0
ENSG00000137700
0
0
ENSG00000137700
missense_variant
ENSG00000137700
3,245
ENSG00000137700
1,066
1,066
ENSG00000137700
missense_variant
NA
NA
11
119,030,456
C
G
false
5_prime_UTR_variant
278
rs2846281
0.000201
0.22755
55.77
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000137700
0
ENSG00000137700
0
0
ENSG00000137700
5_prime_UTR_variant
ENSG00000137700
449
ENSG00000137700
76
76
ENSG00000137700
5_prime_UTR_variant
NA
NA
11
119,122,922
G
A
false
tss_proximal
381
rs1179920
0.006201
0.40398
135.29
intron_variant
pELS
ENSG00000172273
810
ENSG00000172273
1,065
810
ENSG00000172273
tss_proximal
ENSG00000172273
810
ENSG00000172273
1,065
810
ENSG00000172273
tss_proximal
tss_prox:b1
tss_prox:b1
11
119,134,422
C
T
false
missense_variant
298
rs100803
0.007255
0.40398
135.27
missense_variant
missense_variant
ENSG00000172273
0
ENSG00000172273
0
0
ENSG00000172273
missense_variant
ENSG00000172273
10,688
ENSG00000172273
1,582
1,582
ENSG00000172273
missense_variant
NA
NA
11
119,141,611
C
G
false
distal
370
rs620168
0.002251
0.47831
152.07
intergenic_variant
intergenic_variant
ENSG00000172273
5,551
ENSG00000172273
6,556
5,551
ENSG00000172273
intergenic_variant
ENSG00000172350
7,440
ENSG00000172273
8,771
7,440
ENSG00000172350
distal
NA
NA
11
119,171,062
G
A
false
tss_proximal
379
rs541797073
0.000098
0.002108
10.892
intron_variant
pELS_flank
ENSG00000160703
293
ENSG00000160703
293
293
ENSG00000160703
tss_proximal
ENSG00000160703
293
ENSG00000160703
1,914
293
ENSG00000160703
tss_proximal
tss_prox:b1
tss_prox:b1
11
119,315,038
G
A
true
splicing
405
rs35929108
0.98974
Plt
0.079135
40.747
splice_region_variant
splice_region_variant
ENSG00000076706
0
ENSG00000076706
0
0
ENSG00000076706
splice_region_variant
ENSG00000076706
2,091
ENSG00000076706
781
781
ENSG00000076706
splicing
NA
splicing:b0
11
119,639,934
A
C
false
missense_variant
296
rs7940667
0.000962
0.07278
81.582
missense_variant
missense_variant
ENSG00000110400
0
ENSG00000254561
0
0
ENSG00000110400
missense_variant
ENSG00000110400
88,618
ENSG00000254561
12,599
12,599
ENSG00000254561
missense_variant
NA
NA
11
119,701,265
A
G
false
distal
361
rs1110166
0.000681
0.38842
97.958
intron_variant
dELS_flank
ENSG00000110400
22,499
ENSG00000255247
8,654
8,654
ENSG00000255247
dELS_flank
ENSG00000110400
27,287
ENSG00000255247
8,654
8,654
ENSG00000255247
distal
NA
NA
11
119,701,341
G
T
false
distal
361
rs3902806
0.000603
0.39099
98.412
intron_variant
dELS_flank
ENSG00000110400
22,575
ENSG00000255247
8,578
8,578
ENSG00000255247
dELS_flank
ENSG00000110400
27,211
ENSG00000255247
8,578
8,578
ENSG00000255247
distal
NA
NA
11
119,701,393
T
C
false
distal
361
rs3935405
0.000578
0.3869
98.004
intron_variant
dELS_flank
ENSG00000110400
22,627
ENSG00000255247
8,526
8,526
ENSG00000255247
dELS_flank
ENSG00000110400
27,159
ENSG00000255247
8,526
8,526
ENSG00000255247
distal
NA
NA
11
119,701,475
G
A
false
distal
361
rs3935406
0.000597
0.3909
98.423
intron_variant
dELS_flank
ENSG00000110400
22,709
ENSG00000255247
8,444
8,444
ENSG00000255247
dELS_flank
ENSG00000110400
27,077
ENSG00000255247
8,444
8,444
ENSG00000255247
distal
NA
NA
11
119,701,731
G
A
false
distal
361
rs885430
0.000566
0.38686
98.016
intron_variant
dELS_flank
ENSG00000110400
22,965
ENSG00000255247
8,188
8,188
ENSG00000255247
dELS_flank
ENSG00000110400
26,821
ENSG00000255247
8,188
8,188
ENSG00000255247
distal
NA
NA
11
120,119,184
A
G
false
tss_proximal
374
rs606970
0.000792
0.49027
75.631
intron_variant
dELS_flank
ENSG00000137699
862
ENSG00000137699
316
316
ENSG00000137699
tss_proximal
ENSG00000137699
1,715
ENSG00000137699
316
316
ENSG00000137699
tss_proximal
tss_prox:b2
tss_prox:b1
11
120,128,446
A
G
false
missense_variant
300
rs75068802
0.000116
0.000159
17.123
missense_variant
missense_variant
ENSG00000137699
0
ENSG00000137699
0
0
ENSG00000137699
missense_variant
ENSG00000137699
466
ENSG00000137699
463
463
ENSG00000137699
missense_variant
NA
NA
11
120,293,160
T
C
false
distal
322
rs2155810
0.004103
0.259
69.833
intron_variant
dELS
ENSG00000137709
5,104
ENSG00000137709
5,104
5,104
ENSG00000137709
dELS
ENSG00000137709
12,483
ENSG00000137709
7,742
7,742
ENSG00000137709
distal
NA
NA
11
120,471,014
T
C
false
distal
340
rs11217879
0.003404
0.2255
152.45
intron_variant
dELS
ENSG00000196914
1,625
ENSG00000196914
1,625
1,625
ENSG00000196914
dELS
ENSG00000149403
40,731
ENSG00000196914
4,960
4,960
ENSG00000196914
distal
NA
NA
11
120,530,762
G
A
false
distal
360
rs117385635
0.000041
0.005384
7.5698
intron_variant
dELS_flank
ENSG00000149403
18,874
ENSG00000149403
15,739
15,739
ENSG00000149403
dELS_flank
ENSG00000149403
19,013
ENSG00000149403
18,959
18,959
ENSG00000149403
distal
NA
NA
11
120,548,509
C
T
false
distal
337
rs7940779
0.000427
0.044169
33.047
intron_variant
dELS
ENSG00000149403
15,924
ENSG00000149403
15,976
15,924
ENSG00000149403
dELS
ENSG00000149403
15,924
ENSG00000149403
15,976
15,924
ENSG00000149403
distal
NA
NA
11
120,548,611
G
A
false
distal
337
rs77998262
0.000106
0.035864
34.448
intron_variant
dELS
ENSG00000149403
15,822
ENSG00000149403
15,874
15,822
ENSG00000149403
dELS
ENSG00000149403
15,822
ENSG00000149403
15,874
15,822
ENSG00000149403
distal
NA
NA
11
121,335,578
T
C
false
distal
344
rs73021510
0.000096
0.003634
5.5697
intergenic_variant
dELS
ENSG00000109929
22,167
ENSG00000232460
26,275
22,167
ENSG00000109929
dELS
ENSG00000109929
42,725
ENSG00000232460
27,286
27,286
ENSG00000232460
distal
NA
NA
11
121,405,669
C
T
false
distal
362
rs79136270
0.000083
0.019815
26.873
intergenic_variant
dELS_flank
ENSG00000137642
46,644
ENSG00000289391
13,204
13,204
ENSG00000289391
dELS_flank
ENSG00000137642
46,644
ENSG00000289391
13,204
13,204
ENSG00000289391
distal
NA
NA
11
121,544,603
C
T
false
distal
326
rs10502262
0.000138
0.25818
40.673
intron_variant
dELS
ENSG00000137642
639
ENSG00000137642
639
639
ENSG00000137642
dELS
ENSG00000137642
22,121
ENSG00000137642
10,438
10,438
ENSG00000137642
distal
NA
NA
11
121,612,229
C
A
false
non_coding_transcript_exon_variant
354
rs1784931
0.000097
0.38042
54.881
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000137642
506
ENSG00000137642
0
0
ENSG00000137642
non_coding_transcript_exon_variant
ENSG00000137642
21,809
ENSG00000137642
976
976
ENSG00000137642
non_coding_transcript_exon_variant
NA
NA
11
122,150,752
G
A
false
distal
397
rs1364757
0.000631
0.10274
52.665
intron_variant
pELS
ENSG00000259571
34,536
ENSG00000207994
1,476
1,476
ENSG00000207994
pELS
ENSG00000259571
34,536
ENSG00000207994
1,555
1,555
ENSG00000207994
distal
NA
NA
11
122,776,259
G
A
false
missense_variant
312
rs12790613
0.000817
0.32596
25.516
missense_variant
missense_variant
ENSG00000154127
0
ENSG00000154127
0
0
ENSG00000154127
missense_variant
ENSG00000109943
62,240
ENSG00000154127
624
624
ENSG00000154127
missense_variant
NA
NA
11
122,799,682
G
T
true
distal
340
rs873590
0.9952
FEV1FVC
0.22008
34.134
intron_variant
dELS
ENSG00000154127
647
ENSG00000154127
2,417
647
ENSG00000154127
dELS
ENSG00000109943
38,817
ENSG00000154127
4,903
4,903
ENSG00000154127
distal
NA
NA
11
122,864,660
C
T
false
missense_variant
305
rs75065751
0.000058
0.000087
21.292
missense_variant
missense_variant
ENSG00000109943
0
ENSG00000109943
0
0
ENSG00000109943
missense_variant
ENSG00000109943
2,356
ENSG00000109943
68
68
ENSG00000109943
missense_variant
NA
NA
11
123,008,847
G
A
false
distal
372
rs141883261
0.00018
0.001022
2.2799
intergenic_variant
intergenic_variant
ENSG00000188909
27,012
ENSG00000213184
8,790
8,790
ENSG00000213184
intergenic_variant
ENSG00000188909
27,012
ENSG00000213184
8,790
8,790
ENSG00000213184
distal
NA
NA
11
123,057,914
A
G
false
synonymous_variant
285
rs4802
0.000222
0.2286
142.94
synonymous_variant
synonymous_variant
ENSG00000109971
0
ENSG00000109971
0
0
ENSG00000109971
synonymous_variant
ENSG00000109971
1,182
ENSG00000200879
246
246
ENSG00000200879
synonymous_variant
NA
NA
11
123,149,757
C
T
false
distal
362
rs191738701
0.000042
0.017144
17.924
intron_variant
dELS_flank
ENSG00000166250
45,155
ENSG00000255342
13,380
13,380
ENSG00000255342
dELS_flank
ENSG00000166250
45,490
ENSG00000255342
13,380
13,380
ENSG00000255342
distal
NA
NA
11
123,317,157
G
A
false
distal
399
rs11606158
0.000126
0.23823
141.24
intergenic_variant
pELS
ENSG00000023171
41,270
ENSG00000254823
1,816
1,816
ENSG00000254823
pELS
ENSG00000023171
41,270
ENSG00000254823
1,816
1,816
ENSG00000254823
distal
NA
NA
11
123,656,361
C
T
false
distal
345
rs1148085
0.000526
0.23576
70.861
intergenic_variant
pELS_flank
ENSG00000166257
1,116
ENSG00000166257
1,767
1,116
ENSG00000166257
pELS_flank
ENSG00000166257
1,116
ENSG00000166257
1,767
1,116
ENSG00000166257
distal
NA
NA
11
123,733,311
C
T
false
distal
383
rs192231754
0.00007
0.005048
11.041
intron_variant
intron_variant
ENSG00000166261
2,325
ENSG00000166261
2,325
2,325
ENSG00000166261
intron_variant
ENSG00000166261
8,302
ENSG00000166261
8,348
8,302
ENSG00000166261
distal
NA
NA
11
123,823,393
T
C
false
distal
360
rs12790388
0.00007
0.005123
36.431
intergenic_variant
dELS_flank
ENSG00000196099
17,043
ENSG00000254613
15,641
15,641
ENSG00000254613
dELS_flank
ENSG00000196099
17,043
ENSG00000254613
18,482
17,043
ENSG00000196099
distal
NA
NA
11
123,883,251
C
T
false
missense_variant
309
rs35551906
0.000108
0.081511
150.44
missense_variant
missense_variant
ENSG00000204300
0
ENSG00000254430
20,729
0
ENSG00000204300
missense_variant
ENSG00000204300
2,381
ENSG00000254430
20,729
2,381
ENSG00000204300
missense_variant
NA
NA
11
123,942,849
A
C
false
tss_proximal
403
rs76898395
0.000181
0.001374
174.49
downstream_gene_variant
pELS_flank
ENSG00000181499
17
ENSG00000226461
66,805
17
ENSG00000181499
tss_proximal
ENSG00000181499
988
ENSG00000226461
66,805
988
ENSG00000181499
tss_proximal
tss_prox:b1
tss_prox:b0
11
124,159,766
A
G
false
distal
400
rs4936897
0.000027
0.38311
562.95
downstream_gene_variant
pELS
ENSG00000110002
12,044
ENSG00000196403
409
409
ENSG00000196403
pELS
ENSG00000197309
23,578
ENSG00000196403
1,344
1,344
ENSG00000196403
distal
NA
NA
11
124,359,781
C
A
false
distal
397
rs2510430
0.000048
0.11305
275.78
intergenic_variant
pELS
ENSG00000284680
22,612
ENSG00000255030
1,311
1,311
ENSG00000255030
pELS
ENSG00000284680
24,717
ENSG00000255030
1,311
1,311
ENSG00000255030
distal
NA
NA
11
124,398,839
G
T
false
5_prime_UTR_variant
280
rs548081
0.00062
0.3654
471.75
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000284609
0
ENSG00000255048
5,394
0
ENSG00000284609
5_prime_UTR_variant
ENSG00000284609
184
ENSG00000255048
6,262
184
ENSG00000284609
5_prime_UTR_variant
NA
NA
11
124,421,123
A
C
false
distal
402
rs11355206
0.000012
0.26639
280.73
intergenic_variant
CA-TF
ENSG00000280090
2,818
ENSG00000285561
6,330
2,818
ENSG00000280090
CA-TF
ENSG00000280090
3,747
ENSG00000285561
6,330
3,747
ENSG00000280090
distal
NA
NA
11
124,425,106
G
T
false
tss_proximal
377
rs57202618
0.000136
0.1012
181.92
upstream_gene_variant
TF_flank
ENSG00000280090
234
ENSG00000285561
10,313
234
ENSG00000280090
tss_proximal
ENSG00000280090
234
ENSG00000285561
10,313
234
ENSG00000280090
tss_proximal
tss_prox:b1
tss_prox:b1
11
124,425,739
A
C
false
tss_proximal
377
rs1893704
0.000145
0.10145
181.86
upstream_gene_variant
upstream_gene_variant
ENSG00000280090
867
ENSG00000285561
10,946
867
ENSG00000280090
tss_proximal
ENSG00000280090
867
ENSG00000285561
10,946
867
ENSG00000280090
tss_proximal
tss_prox:b1
tss_prox:b1