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
43,960,353
G
A
false
splicing
188
rs2301993
0.004126
0.20179
246.43
intron_variant
intron_variant
ENSG00000117408
23
ENSG00000117408
2,803
23
ENSG00000117408
exon_proximal
ENSG00000117408
5,585
ENSG00000117408
3,243
3,243
ENSG00000117408
splicing
NA
splicing:b1
1
43,975,725
G
T
false
missense_variant
104
rs79393420
0.000271
0.003205
22.522
missense_variant
missense_variant
ENSG00000117410
74
ENSG00000117410
0
0
ENSG00000117410
missense_variant
ENSG00000117410
329
ENSG00000117410
111
111
ENSG00000117410
missense_variant
NA
NA
1
44,000,646
G
T
false
distal
18
rs112820660
0.000037
0.007558
78.888
intron_variant
dELS_flank
ENSG00000196517
120
ENSG00000159214
4,117
120
ENSG00000196517
dELS_flank
ENSG00000159214
8,803
ENSG00000159214
5,252
5,252
ENSG00000159214
distal
NA
NA
1
44,000,724
C
A
false
distal
18
rs145446941
0.000039
0.007545
78.872
intron_variant
dELS_flank
ENSG00000196517
42
ENSG00000159214
4,195
42
ENSG00000196517
dELS_flank
ENSG00000159214
8,881
ENSG00000159214
5,330
5,330
ENSG00000159214
distal
NA
NA
1
44,031,293
C
T
false
tss_proximal
172
rs138865507
0.00007
0.017211
29.121
intron_variant
PLS
ENSG00000196517
12
ENSG00000196517
12
12
ENSG00000196517
tss_proximal
ENSG00000196517
66
ENSG00000196517
135
66
ENSG00000196517
tss_proximal
tss_prox:b0
tss_prox:b0
1
44,031,577
T
C
true
tss_proximal
139
rs12037805
0.99208
MCH,MCV
0.3192
98.234
intron_variant
PLS
ENSG00000196517
114
ENSG00000196517
109
109
ENSG00000196517
tss_proximal
ENSG00000196517
114
ENSG00000196517
109
109
ENSG00000196517
tss_proximal
tss_prox:b1
tss_prox:b1
1
44,139,334
G
A
false
synonymous_variant
187
rs2485649
0.002979
0.31081
108.16
synonymous_variant
synonymous_variant
ENSG00000283039
0
ENSG00000171872
8,617
0
ENSG00000283039
synonymous_variant
ENSG00000283039
2,296
ENSG00000226804
12,418
2,296
ENSG00000283039
synonymous_variant
NA
NA
1
44,158,103
T
G
false
distal
154
rs803379
0.000473
0.37485
166.96
intergenic_variant
TF
ENSG00000283039
16,471
ENSG00000238037
2,801
2,801
ENSG00000238037
TF
ENSG00000283039
16,471
ENSG00000238037
2,801
2,801
ENSG00000238037
distal
NA
NA
1
44,293,546
C
T
false
distal
41
rs34471010
0.000617
0.3782
163.54
intron_variant
dELS
ENSG00000117419
8,638
ENSG00000117419
8,638
8,638
ENSG00000117419
dELS
ENSG00000117419
26,197
ENSG00000117419
36,624
26,197
ENSG00000117419
distal
NA
NA
1
44,419,451
C
A
false
non_coding_transcript_exon_variant
118
rs3866643
0.005524
0.39815
36.166
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000187147
6,724
ENSG00000187147
0
0
ENSG00000187147
non_coding_transcript_exon_variant
ENSG00000187147
14,162
ENSG00000187147
6,752
6,752
ENSG00000187147
non_coding_transcript_exon_variant
NA
NA
1
44,566,617
C
G
false
distal
2
rs72689745
0.00009
0.097455
45.789
intron_variant
dELS_flank
ENSG00000187147
6,384
ENSG00000263381
21,064
6,384
ENSG00000187147
dELS_flank
ENSG00000187147
59,708
ENSG00000263381
21,123
21,123
ENSG00000263381
distal
NA
NA
1
44,566,635
A
G
false
distal
2
rs534482641
0.000108
0.094497
45.402
intron_variant
dELS_flank
ENSG00000187147
6,366
ENSG00000263381
21,082
6,366
ENSG00000187147
dELS_flank
ENSG00000187147
59,690
ENSG00000263381
21,141
21,141
ENSG00000263381
distal
NA
NA
1
44,566,771
G
A
false
distal
2
rs76680219
0.000452
0.083264
32.21
intron_variant
dELS_flank
ENSG00000187147
6,230
ENSG00000263381
21,218
6,230
ENSG00000187147
dELS_flank
ENSG00000187147
59,554
ENSG00000263381
21,277
21,277
ENSG00000263381
distal
NA
NA
1
44,566,935
C
T
false
distal
2
rs28404710
0.003345
0.083874
44.976
intron_variant
dELS_flank
ENSG00000187147
6,066
ENSG00000263381
21,382
6,066
ENSG00000187147
dELS_flank
ENSG00000187147
59,390
ENSG00000263381
21,441
21,441
ENSG00000263381
distal
NA
NA
1
44,567,338
G
A
false
distal
2
rs61787551
0.003194
0.0838
45.054
intron_variant
dELS_flank
ENSG00000187147
5,663
ENSG00000263381
21,785
5,663
ENSG00000187147
dELS_flank
ENSG00000187147
58,987
ENSG00000263381
21,844
21,844
ENSG00000263381
distal
NA
NA
1
44,567,699
G
A
false
distal
2
rs755597
0.003123
0.083735
45.06
intron_variant
dELS_flank
ENSG00000187147
5,302
ENSG00000263381
22,146
5,302
ENSG00000187147
dELS_flank
ENSG00000187147
58,626
ENSG00000263381
22,205
22,205
ENSG00000263381
distal
NA
NA
1
44,569,026
C
G
false
distal
2
rs12753862
0.003282
0.083756
45.076
intron_variant
dELS_flank
ENSG00000187147
3,975
ENSG00000263381
23,473
3,975
ENSG00000187147
dELS_flank
ENSG00000187147
57,299
ENSG00000263381
23,532
23,532
ENSG00000263381
distal
NA
NA
1
44,727,277
T
C
false
distal
43
rs6671255
0.004489
0.389
287.6
intergenic_variant
dELS
ENSG00000198520
1,685
ENSG00000198520
1,685
1,685
ENSG00000198520
dELS
ENSG00000142945
12,540
ENSG00000198520
2,769
2,769
ENSG00000198520
distal
NA
NA
1
44,810,353
C
G
false
missense_variant
72
rs191977029
0.000083
0.005411
24.861
missense_variant
missense_variant
ENSG00000222009
0
ENSG00000222009
0
0
ENSG00000222009
missense_variant
ENSG00000222009
1,829
ENSG00000222009
306
306
ENSG00000222009
missense_variant
NA
NA
1
45,136,154
C
T
false
distal
5
rs346688
0.000056
0.054631
266.36
intron_variant
dELS_flank
ENSG00000162415
47,916
ENSG00000162415
47,916
47,916
ENSG00000162415
dELS_flank
ENSG00000162415
70,450
ENSG00000234315
65,724
65,724
ENSG00000234315
distal
NA
NA
1
45,506,087
T
C
false
distal
67
rs10789465
0.003001
0.43033
446.97
intron_variant
dELS
ENSG00000132763
1,268
ENSG00000132763
3,345
1,268
ENSG00000132763
dELS
ENSG00000132763
5,745
ENSG00000132763
3,345
3,345
ENSG00000132763
distal
NA
NA
1
45,569,927
C
T
false
missense_variant
113
rs145543542
0.000034
0.000424
8.8581
missense_variant
missense_variant
ENSG00000117448
0
ENSG00000117448
0
0
ENSG00000117448
missense_variant
ENSG00000132780
13,918
ENSG00000117448
876
876
ENSG00000117448
missense_variant
NA
NA
1
45,621,905
G
A
false
missense_variant
111
rs3014242
0.004038
0.29898
794.09
missense_variant
missense_variant
ENSG00000159588
0
ENSG00000159588
0
0
ENSG00000159588
missense_variant
ENSG00000159588
2,061
ENSG00000159588
867
867
ENSG00000159588
missense_variant
NA
NA
1
45,641,571
C
T
false
distal
8
rs12025613
0.001735
0.30157
805.23
intron_variant
dELS_flank
ENSG00000159592
855
ENSG00000159592
98
98
ENSG00000159592
dELS_flank
ENSG00000159588
17,516
ENSG00000225447
4,625
4,625
ENSG00000225447
distal
NA
NA
1
45,642,196
T
C
false
distal
8
rs12091503
0.002685
0.3036
806.79
intron_variant
dELS_flank
ENSG00000159592
230
ENSG00000159592
230
230
ENSG00000159592
dELS_flank
ENSG00000159588
18,141
ENSG00000225447
4,000
4,000
ENSG00000225447
distal
NA
NA
1
45,642,819
A
C
true
distal
8
rs11211145
1
Height
0.30156
805
intron_variant
dELS_flank
ENSG00000159592
319
ENSG00000159592
319
319
ENSG00000159592
dELS_flank
ENSG00000159588
18,764
ENSG00000225447
3,377
3,377
ENSG00000225447
distal
NA
NA
1
45,704,426
T
C
false
distal
167
rs28361459
0.002617
0.30328
809.6
intron_variant
CA_flank
ENSG00000197429
4,235
ENSG00000197429
4,235
4,235
ENSG00000197429
CA_flank
ENSG00000159596
16,244
ENSG00000197429
6,370
6,370
ENSG00000197429
distal
NA
NA
1
45,705,721
A
G
false
distal
167
rs28528139
0.00263
0.30327
809.59
intron_variant
CA_flank
ENSG00000197429
5,530
ENSG00000197429
5,530
5,530
ENSG00000197429
CA_flank
ENSG00000159596
17,539
ENSG00000197429
7,665
7,665
ENSG00000197429
distal
NA
NA
1
45,706,390
C
T
true
distal
167
rs28370457
1
Height
0.30129
808.05
intron_variant
CA_flank
ENSG00000197429
6,199
ENSG00000197429
6,199
6,199
ENSG00000197429
CA_flank
ENSG00000159596
18,208
ENSG00000197429
7,861
7,861
ENSG00000197429
distal
NA
NA
1
46,005,515
C
T
false
distal
12
rs148583302
0.003299
0.010519
24.073
intron_variant
dELS_flank
ENSG00000086015
725
ENSG00000086015
725
725
ENSG00000086015
dELS_flank
ENSG00000086015
91,867
ENSG00000086015
2,703
2,703
ENSG00000086015
distal
NA
NA
1
46,046,074
T
C
false
missense_variant
109
rs150974432
0.000054
0.001443
25.494
missense_variant
missense_variant
ENSG00000117461
0
ENSG00000117461
0
0
ENSG00000117461
missense_variant
ENSG00000117461
86,541
ENSG00000226957
743
743
ENSG00000226957
missense_variant
NA
NA
1
46,056,040
G
A
false
non_coding_transcript_exon_variant
122
rs113728358
0.000129
0.005898
26.078
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000278139
68
ENSG00000117461
0
0
ENSG00000117461
non_coding_transcript_exon_variant
ENSG00000117461
76,575
ENSG00000117461
1,393
1,393
ENSG00000117461
non_coding_transcript_exon_variant
NA
NA
1
46,179,852
C
A
false
distal
55
rs3820082
0.000047
0.14405
233.05
intron_variant
dELS
ENSG00000117472
673
ENSG00000117472
673
673
ENSG00000117472
dELS
ENSG00000278139
3,363
ENSG00000117472
3,580
3,363
ENSG00000278139
distal
NA
NA
1
46,188,752
G
C
false
missense_variant
100
rs188613442
0.000048
0.000996
21.903
missense_variant
missense_variant
ENSG00000085998
0
ENSG00000085998
0
0
ENSG00000085998
missense_variant
ENSG00000085998
9,381
ENSG00000085998
814
814
ENSG00000085998
missense_variant
NA
NA
1
46,189,973
C
T
false
missense_variant
94
rs74374973
0.000196
0.01345
26.065
missense_variant
missense_variant
ENSG00000085998
0
ENSG00000085998
0
0
ENSG00000085998
missense_variant
ENSG00000085998
8,160
ENSG00000085998
149
149
ENSG00000085998
missense_variant
NA
NA
1
46,340,878
C
T
false
missense_variant
111
rs41293277
0.000137
0.30328
408.07
missense_variant
missense_variant
ENSG00000117481
0
ENSG00000117481
0
0
ENSG00000117481
missense_variant
ENSG00000117481
70
ENSG00000117481
48
48
ENSG00000117481
missense_variant
NA
NA
1
46,343,353
G
T
false
missense_variant
111
rs7525309
0.000363
0.29974
414
missense_variant
missense_variant
ENSG00000117481
0
ENSG00000117481
658
0
ENSG00000117481
missense_variant
ENSG00000117481
39
ENSG00000117481
658
39
ENSG00000117481
missense_variant
NA
NA
1
46,343,649
C
G
false
missense_variant
111
rs7548675
0.000325
0.30013
413.1
missense_variant
missense_variant
ENSG00000117481
0
ENSG00000117481
362
0
ENSG00000117481
missense_variant
ENSG00000117481
255
ENSG00000117481
362
255
ENSG00000117481
missense_variant
NA
NA
1
46,343,747
A
G
false
missense_variant
111
rs7515284
0.00026
0.29974
413.86
missense_variant
missense_variant
ENSG00000117481
0
ENSG00000117481
264
0
ENSG00000117481
missense_variant
ENSG00000117481
353
ENSG00000117481
264
264
ENSG00000117481
missense_variant
NA
NA
1
46,361,784
A
G
false
missense_variant
107
rs9865
0.000481
0.12313
120.91
missense_variant
missense_variant
ENSG00000117481
0
ENSG00000117481
0
0
ENSG00000117481
missense_variant
ENSG00000117481
18,390
ENSG00000225779
8,801
8,801
ENSG00000225779
missense_variant
NA
NA
1
46,407,609
G
C
false
distal
11
rs6697851
0.000303
0.37731
275.25
intron_variant
dELS_flank
ENSG00000117480
849
ENSG00000117480
849
849
ENSG00000117480
dELS_flank
ENSG00000117480
13,291
ENSG00000117480
1,570
1,570
ENSG00000117480
distal
NA
NA
1
46,532,413
G
C
false
3_prime_UTR_variant
131
rs33998070
0.000461
0.4957
144.09
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000282881
0
ENSG00000269956
6,197
0
ENSG00000282881
3_prime_UTR_variant
ENSG00000282881
3,101
ENSG00000269956
6,197
3,101
ENSG00000282881
3_prime_UTR_variant
NA
NA
1
46,750,104
T
A
false
distal
58
rs75654819
0.000203
0.007983
29.52
intergenic_variant
dELS
ENSG00000159658
30,967
ENSG00000236476
6,970
6,970
ENSG00000236476
dELS
ENSG00000159658
30,967
ENSG00000142973
7,733
7,733
ENSG00000142973
distal
NA
NA
1
46,750,126
C
T
false
distal
58
rs118048574
0.000284
0.007981
29.57
intergenic_variant
dELS
ENSG00000159658
30,989
ENSG00000236476
6,992
6,992
ENSG00000236476
dELS
ENSG00000159658
30,989
ENSG00000142973
7,711
7,711
ENSG00000142973
distal
NA
NA
1
46,798,019
A
G
false
tss_proximal
140
rs634431
0.000034
0.05995
92.952
intron_variant
pELS_flank
ENSG00000142973
978
ENSG00000142973
978
978
ENSG00000142973
tss_proximal
ENSG00000142973
978
ENSG00000142973
978
978
ENSG00000142973
tss_proximal
tss_prox:b1
tss_prox:b1
1
46,799,993
T
C
true
tss_proximal
140
rs837402
1
Height
0.05995
93.017
intron_variant
pELS
ENSG00000142973
731
ENSG00000142973
731
731
ENSG00000142973
tss_proximal
ENSG00000142973
910
ENSG00000142973
928
910
ENSG00000142973
tss_proximal
tss_prox:b1
tss_prox:b1
1
46,800,005
C
T
false
tss_proximal
140
rs837401
0.000032
0.05996
93.019
intron_variant
pELS
ENSG00000142973
743
ENSG00000142973
743
743
ENSG00000142973
tss_proximal
ENSG00000142973
922
ENSG00000142973
940
922
ENSG00000142973
tss_proximal
tss_prox:b1
tss_prox:b1
1
46,933,071
G
C
false
splicing
188
rs3890011
0.000302
0.20701
310.46
intron_variant
intron_variant
ENSG00000187048
23
ENSG00000187048
23
23
ENSG00000187048
exon_proximal
ENSG00000187048
8,392
ENSG00000187048
1,174
1,174
ENSG00000187048
splicing
NA
splicing:b1
1
46,996,201
G
A
false
distal
22
rs12095446
0.000036
0.007722
136.27
intergenic_variant
dELS_flank
ENSG00000186377
27,467
ENSG00000261196
1,698
1,698
ENSG00000261196
dELS_flank
ENSG00000186377
27,467
ENSG00000261196
1,698
1,698
ENSG00000261196
distal
NA
NA
1
47,142,090
T
C
false
splicing
188
rs2056901
0.000085
0.21848
291.47
intron_variant
intron_variant
ENSG00000162365
17
ENSG00000162365
17
17
ENSG00000162365
exon_proximal
ENSG00000162365
4,634
ENSG00000162365
4,654
4,634
ENSG00000162365
splicing
NA
splicing:b1
1
47,144,393
A
C
false
missense_variant
83
rs6661132
0.000255
0.084094
203.72
missense_variant
missense_variant
ENSG00000162365
0
ENSG00000162365
0
0
ENSG00000162365
missense_variant
ENSG00000162365
6,937
ENSG00000162365
6,957
6,937
ENSG00000162365
missense_variant
NA
NA
1
47,148,762
C
T
false
missense_variant
89
rs4926600
0.000219
0.084481
203.3
missense_variant
missense_variant
ENSG00000162365
0
ENSG00000162365
0
0
ENSG00000162365
missense_variant
ENSG00000162365
11,306
ENSG00000162365
11,326
11,306
ENSG00000162365
missense_variant
NA
NA
1
47,185,943
T
C
false
tss_proximal
165
rs2798354
0.000303
0.19946
64.024
intron_variant
dELS_flank
ENSG00000162366
845
ENSG00000162366
598
598
ENSG00000162366
tss_proximal
ENSG00000162366
4,092
ENSG00000162366
598
598
ENSG00000162366
tss_proximal
tss_prox:b2
tss_prox:b1
1
47,190,708
A
G
false
5_prime_UTR_variant
127
rs149824578
0.000099
0.009584
45.726
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000162366
0
ENSG00000162366
700
0
ENSG00000162366
5_prime_UTR_variant
ENSG00000162366
335
ENSG00000162366
700
335
ENSG00000162366
5_prime_UTR_variant
NA
NA
1
47,243,004
A
T
false
distal
162
rs2057393
0.002112
0.17906
54.248
intergenic_variant
intergenic_variant
ENSG00000123473
7,134
ENSG00000123473
7,168
7,134
ENSG00000123473
intergenic_variant
ENSG00000162367
10,778
ENSG00000162367
11,785
10,778
ENSG00000162367
distal
NA
NA
1
47,243,223
C
A
false
distal
162
rs2057392
0.001579
0.17919
54.258
intergenic_variant
intergenic_variant
ENSG00000123473
6,915
ENSG00000123473
6,949
6,915
ENSG00000123473
intergenic_variant
ENSG00000162367
10,997
ENSG00000162367
12,004
10,997
ENSG00000162367
distal
NA
NA
1
47,309,679
G
A
true
tss_proximal
141
rs72686217
1
Height
0.039754
71.648
intron_variant
dELS
ENSG00000123473
596
ENSG00000123473
4,361
596
ENSG00000123473
tss_proximal
ENSG00000123473
639
ENSG00000123473
4,361
639
ENSG00000123473
tss_proximal
tss_prox:b1
tss_prox:b1
1
47,312,848
T
C
false
tss_proximal
190
rs6671254
0.000222
0.49721
265.66
intron_variant
PLS_flank
ENSG00000123473
99
ENSG00000123473
7,530
99
ENSG00000123473
tss_proximal
ENSG00000123473
286
ENSG00000123473
7,530
286
ENSG00000123473
tss_proximal
tss_prox:b1
tss_prox:b0
1
47,402,333
C
T
true
distal
9
rs11579058
1
Height
0.062779
91.648
intron_variant
dELS_flank
ENSG00000162368
7,466
ENSG00000225762
5,986
5,986
ENSG00000225762
dELS_flank
ENSG00000186790
13,951
ENSG00000225762
6,143
6,143
ENSG00000225762
distal
NA
NA
1
47,449,503
G
T
true
distal
10
rs565692
1
Height
0.41434
184.24
intergenic_variant
dELS_flank
ENSG00000186564
8,811
ENSG00000237424
14,861
8,811
ENSG00000186564
dELS_flank
ENSG00000186564
11,458
ENSG00000237424
14,861
11,458
ENSG00000186564
distal
NA
NA
1
47,449,561
A
T
false
distal
10
rs564914
0.004167
0.41413
184.1
intergenic_variant
dELS_flank
ENSG00000186564
8,869
ENSG00000237424
14,919
8,869
ENSG00000186564
dELS_flank
ENSG00000186564
11,516
ENSG00000237424
14,919
11,516
ENSG00000186564
distal
NA
NA
1
48,485,927
C
T
false
distal
159
rs2803248
0.000344
0.33246
160.65
intergenic_variant
intergenic_variant
ENSG00000132122
13,718
ENSG00000232514
11,335
11,335
ENSG00000232514
intergenic_variant
ENSG00000132122
13,718
ENSG00000232514
11,808
11,808
ENSG00000232514
distal
NA
NA
1
51,101,421
G
T
false
tss_proximal
140
rs61782421
0.000288
0.060647
98.973
upstream_gene_variant
upstream_gene_variant
ENSG00000204006
799
ENSG00000204006
864
799
ENSG00000204006
tss_proximal
ENSG00000204006
799
ENSG00000204006
864
799
ENSG00000204006
tss_proximal
tss_prox:b1
tss_prox:b1
1
51,288,206
G
A
false
missense_variant
77
rs200400903
0.000022
0.000264
12.424
missense_variant
missense_variant
ENSG00000085831
0
ENSG00000085831
0
0
ENSG00000085831
missense_variant
ENSG00000085831
8,653
ENSG00000085831
9,753
8,653
ENSG00000085831
missense_variant
NA
NA
1
51,402,488
C
G
false
missense_variant
106
rs34957183
0.000056
0.009267
40.802
missense_variant
missense_variant
ENSG00000085832
0
ENSG00000085832
0
0
ENSG00000085832
missense_variant
ENSG00000085831
57,371
ENSG00000085832
962
962
ENSG00000085832
missense_variant
NA
NA
1
51,527,961
A
C
false
distal
146
rs529806475
0.00242
0.022132
442.29
intron_variant
intron_variant
ENSG00000085832
8,694
ENSG00000085832
8,706
8,694
ENSG00000085832
intron_variant
ENSG00000085832
8,694
ENSG00000085832
8,706
8,694
ENSG00000085832
distal
NA
NA
1
51,527,963
A
C
false
distal
146
rs548091299
0.00242
0.022132
442.29
intron_variant
intron_variant
ENSG00000085832
8,696
ENSG00000085832
8,708
8,696
ENSG00000085832
intron_variant
ENSG00000085832
8,696
ENSG00000085832
8,708
8,696
ENSG00000085832
distal
NA
NA
1
51,535,568
T
A
false
distal
154
rs12747135
0.000142
0.37396
139.98
intron_variant
TF
ENSG00000085832
16,301
ENSG00000252032
3,056
3,056
ENSG00000252032
TF
ENSG00000085832
16,301
ENSG00000252032
3,160
3,160
ENSG00000252032
distal
NA
NA
1
51,878,349
C
G
false
missense_variant
110
rs150559312
0.00008
0.001268
16.371
missense_variant
missense_variant
ENSG00000078618
0
ENSG00000078618
0
0
ENSG00000078618
missense_variant
ENSG00000078618
308
ENSG00000078618
373
308
ENSG00000078618
missense_variant
NA
NA
1
51,907,133
G
C
false
distal
48
rs147735254
0.000037
0.002203
12.081
downstream_gene_variant
dELS
ENSG00000169213
822
ENSG00000078618
28,361
822
ENSG00000169213
dELS
ENSG00000078618
28,327
ENSG00000078618
28,361
28,327
ENSG00000078618
distal
NA
NA
1
51,907,147
G
T
false
distal
48
rs142642447
0.000073
0.006829
33.181
downstream_gene_variant
dELS
ENSG00000169213
808
ENSG00000078618
28,375
808
ENSG00000169213
dELS
ENSG00000078618
28,341
ENSG00000078618
28,375
28,341
ENSG00000078618
distal
NA
NA
1
51,973,723
A
T
false
tss_proximal
175
rs9436909
0.000543
0.04633
229.94
intron_variant
pELS
ENSG00000169213
3,166
ENSG00000200839
187
187
ENSG00000200839
tss_proximal
ENSG00000169213
16,976
ENSG00000200839
312
312
ENSG00000200839
tss_proximal
tss_prox:b2
tss_prox:b2
1
52,361,270
A
T
false
tss_proximal
136
rs115780455
0.000055
0.014304
116.76
intron_variant
dELS_flank
ENSG00000154222
137
ENSG00000154222
137
137
ENSG00000154222
tss_proximal
ENSG00000154222
721
ENSG00000154222
169
169
ENSG00000154222
tss_proximal
tss_prox:b1
tss_prox:b1
1
52,385,936
G
A
false
missense_variant
90
rs3087481
0.000034
0.000308
132.01
missense_variant
missense_variant
ENSG00000085840
0
ENSG00000224680
16,691
0
ENSG00000085840
missense_variant
ENSG00000085840
18,450
ENSG00000224680
17,258
17,258
ENSG00000224680
missense_variant
NA
NA
1
52,422,447
C
T
false
distal
6
rs17107212
0.001672
0.12701
162.24
intron_variant
dELS_flank
ENSG00000134744
827
ENSG00000134744
955
827
ENSG00000134744
dELS_flank
ENSG00000134744
8,633
ENSG00000134744
8,664
8,633
ENSG00000134744
distal
NA
NA
1
52,482,039
T
C
false
distal
170
rs17107242
0.001681
0.12633
161.27
intron_variant
CA-CTCF_flank
ENSG00000134744
115
ENSG00000134744
115
115
ENSG00000134744
CA-CTCF_flank
ENSG00000134744
35,388
ENSG00000134744
13,548
13,548
ENSG00000134744
distal
NA
NA
1
52,602,242
T
G
false
tss_proximal
143
rs11810754
0.007684
0.4053
134.11
upstream_gene_variant
PLS_flank
ENSG00000116157
128
ENSG00000116157
157
128
ENSG00000116157
tss_proximal
ENSG00000116157
128
ENSG00000116157
157
128
ENSG00000116157
tss_proximal
tss_prox:b1
tss_prox:b1
1
52,819,795
T
A
false
distal
147
rs567336
0.000058
0.45336
236.02
intron_variant
intron_variant
ENSG00000162378
1,643
ENSG00000206627
14,582
1,643
ENSG00000162378
intron_variant
ENSG00000203995
22,715
ENSG00000206627
14,582
14,582
ENSG00000206627
distal
NA
NA
1
53,037,301
T
G
false
distal
37
rs17107710
0.000065
0.08077
332.38
intron_variant
dELS
ENSG00000116171
1,615
ENSG00000116171
1,615
1,615
ENSG00000116171
dELS
ENSG00000116171
22,326
ENSG00000116171
22,334
22,326
ENSG00000116171
distal
NA
NA
1
53,069,806
G
A
false
missense_variant
101
rs1288386
0.000729
0.42863
138.67
missense_variant
missense_variant
ENSG00000174348
0
ENSG00000232993
131
0
ENSG00000174348
missense_variant
ENSG00000174348
7,592
ENSG00000174348
1,102
1,102
ENSG00000174348
missense_variant
NA
NA
1
53,123,732
G
T
false
distal
42
rs61768148
0.000126
0.18562
57.508
intron_variant
dELS
ENSG00000162383
8,758
ENSG00000235563
5,122
5,122
ENSG00000235563
dELS
ENSG00000162383
18,844
ENSG00000235563
9,155
9,155
ENSG00000235563
distal
NA
NA
1
53,124,129
A
G
true
distal
42
rs1679971
0.99955
Height
0.19722
61.146
intron_variant
dELS
ENSG00000162383
9,155
ENSG00000235563
5,519
5,519
ENSG00000235563
dELS
ENSG00000162383
18,447
ENSG00000235563
9,552
9,552
ENSG00000235563
distal
NA
NA
1
53,130,458
G
A
false
distal
51
rs72670879
0.00006
0.1443
57.905
intron_variant
dELS
ENSG00000162383
3,891
ENSG00000162383
3,891
3,891
ENSG00000162383
dELS
ENSG00000162383
12,118
ENSG00000162383
12,162
12,118
ENSG00000162383
distal
NA
NA
1
53,136,153
A
C
false
distal
19
rs9436923
0.000036
0.11156
36.813
intron_variant
dELS_flank
ENSG00000162383
1,723
ENSG00000162383
1,723
1,723
ENSG00000162383
dELS_flank
ENSG00000162383
6,423
ENSG00000162383
6,467
6,423
ENSG00000162383
distal
NA
NA
1
53,163,518
G
A
false
distal
35
rs6692772
0.00022
0.41064
67.96
intergenic_variant
dELS
ENSG00000162383
20,879
ENSG00000277397
17,402
17,402
ENSG00000277397
dELS
ENSG00000162383
20,879
ENSG00000277397
17,402
17,402
ENSG00000277397
distal
NA
NA
1
53,269,354
C
T
false
tss_proximal
177
rs10888777
0.004728
0.424
105.55
intron_variant
pELS_flank
ENSG00000157193
1,673
ENSG00000234578
752
752
ENSG00000234578
tss_proximal
ENSG00000157193
1,698
ENSG00000157193
755
755
ENSG00000157193
tss_proximal
tss_prox:b2
tss_prox:b2
1
53,311,949
G
A
false
distal
44
rs142107052
0.000156
0.001706
35.108
intron_variant
dELS
ENSG00000157193
14,923
ENSG00000157193
1,019
1,019
ENSG00000157193
dELS
ENSG00000157193
15,933
ENSG00000232762
7,412
7,412
ENSG00000232762
distal
NA
NA
1
53,326,979
A
C
false
missense_variant
74
rs3820198
0.000775
0.34897
72.894
missense_variant
missense_variant
ENSG00000157193
0
ENSG00000157193
0
0
ENSG00000157193
missense_variant
ENSG00000157193
903
ENSG00000157193
419
419
ENSG00000157193
missense_variant
NA
NA
1
53,327,839
T
C
false
missense_variant
74
rs4926972
0.000877
0.34899
72.954
missense_variant
missense_variant
ENSG00000157193
0
ENSG00000157193
0
0
ENSG00000157193
missense_variant
ENSG00000157193
43
ENSG00000157193
21
21
ENSG00000157193
missense_variant
NA
NA
1
53,341,669
G
A
false
distal
20
rs142783188
0.000032
0.038077
51.995
intergenic_variant
dELS_flank
ENSG00000157193
13,199
ENSG00000285954
2,361
2,361
ENSG00000285954
dELS_flank
ENSG00000157193
13,199
ENSG00000285954
2,361
2,361
ENSG00000285954
distal
NA
NA
1
53,371,597
C
T
false
distal
50
rs11589798
0.000019
0.27568
53.407
intergenic_variant
dELS
ENSG00000157193
43,127
ENSG00000230138
3,351
3,351
ENSG00000230138
dELS
ENSG00000157193
43,127
ENSG00000230138
3,351
3,351
ENSG00000230138
distal
NA
NA
1
53,828,031
G
T
false
missense_variant
77
rs141204999
0.000052
0.000556
3.1354
missense_variant
missense_variant
ENSG00000058804
0
ENSG00000058804
0
0
ENSG00000058804
missense_variant
ENSG00000058804
10,264
ENSG00000058804
10,431
10,264
ENSG00000058804
missense_variant
NA
NA
1
53,905,309
T
A
false
distal
24
rs55710293
0.000313
0.094693
136.41
intron_variant
dELS_flank
ENSG00000211452
499
ENSG00000211452
454
454
ENSG00000211452
dELS_flank
ENSG00000211452
11,097
ENSG00000211452
11,097
11,097
ENSG00000211452
distal
NA
NA
1
53,939,979
T
G
false
splicing
169
rs144582882
0.000026
0.000015
12.785
splice_donor_region_variant
splice_donor_region_variant
ENSG00000081870
5
ENSG00000081870
0
0
ENSG00000081870
splice_donor_region_variant
ENSG00000081870
120
ENSG00000081870
5,622
120
ENSG00000081870
splicing
NA
splicing:b1
1
54,213,646
C
T
false
distal
15
rs11206304
0.000061
0.14448
56.797
intron_variant
dELS_flank
ENSG00000116221
987
ENSG00000116221
3,513
987
ENSG00000116221
dELS_flank
ENSG00000116221
3,699
ENSG00000116221
13,441
3,699
ENSG00000116221
distal
NA
NA
1
54,410,054
T
C
false
distal
67
rs926636
0.00205
0.44018
112.24
intron_variant
dELS
ENSG00000157216
3,301
ENSG00000157216
2,653
2,653
ENSG00000157216
dELS
ENSG00000157216
3,424
ENSG00000157216
3,411
3,411
ENSG00000157216
distal
NA
NA
1
54,557,290
G
A
false
distal
25
rs12406932
0.000021
0.24365
35.5
intron_variant
dELS_flank
ENSG00000162390
8,947
ENSG00000162390
8,670
8,670
ENSG00000162390
dELS_flank
ENSG00000162390
9,061
ENSG00000162390
9,069
9,061
ENSG00000162390
distal
NA
NA
1
54,609,668
G
A
false
missense_variant
95
rs41297137
0.000542
0.017971
106.85
missense_variant
missense_variant
ENSG00000162390
0
ENSG00000162390
0
0
ENSG00000162390
missense_variant
ENSG00000162391
13,856
ENSG00000162390
12,403
12,403
ENSG00000162390
missense_variant
NA
NA
1
54,630,761
G
A
false
missense_variant
98
rs145802432
0.000293
0.000376
4.529
missense_variant
missense_variant
ENSG00000162390
0
ENSG00000230728
2,322
0
ENSG00000162390
missense_variant
ENSG00000162391
7,204
ENSG00000230728
2,322
2,322
ENSG00000230728
missense_variant
NA
NA
1
54,653,471
A
G
false
missense_variant
105
rs11206407
0.000158
0.33829
56.378
missense_variant
missense_variant
ENSG00000184313
0
ENSG00000271723
0
0
ENSG00000184313
missense_variant
ENSG00000184313
11,648
ENSG00000184313
579
579
ENSG00000184313
missense_variant
NA
NA