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
67,377,216
T
A
false
distal
3
rs4655541
0.000037
0.28797
134.54
intron_variant
dELS_flank
ENSG00000081985
2,769
ENSG00000081985
2,711
2,711
ENSG00000081985
dELS_flank
ENSG00000142864
53,155
ENSG00000081985
2,711
2,711
ENSG00000081985
distal
NA
NA
1
67,383,066
G
A
false
distal
3
rs12032123
0.000092
0.29128
134.63
intron_variant
dELS_flank
ENSG00000081985
2,942
ENSG00000081985
2,803
2,803
ENSG00000081985
dELS_flank
ENSG00000142864
47,305
ENSG00000081985
3,137
3,137
ENSG00000081985
distal
NA
NA
1
67,515,437
C
T
false
distal
54
rs11209097
0.000061
0.14682
71.268
intergenic_variant
dELS
ENSG00000142864
85,021
ENSG00000235200
6,861
6,861
ENSG00000235200
dELS
ENSG00000142864
85,021
ENSG00000235200
6,861
6,861
ENSG00000235200
distal
NA
NA
1
67,622,756
A
G
true
distal
157
rs787488
0.984685
CRP
0.2729
56.7
intergenic_variant
intergenic_variant
ENSG00000116717
62,444
ENSG00000242482
34,074
34,074
ENSG00000242482
intergenic_variant
ENSG00000116717
62,444
ENSG00000242482
34,372
34,372
ENSG00000242482
distal
NA
NA
1
67,832,710
C
G
false
tss_proximal
142
rs7537084
0.000224
0.27896
170.94
intron_variant
PLS_flank
ENSG00000172380
633
ENSG00000232284
273
273
ENSG00000232284
tss_proximal
ENSG00000172380
756
ENSG00000232284
400
400
ENSG00000232284
tss_proximal
tss_prox:b1
tss_prox:b1
1
67,832,765
G
A
false
tss_proximal
142
rs7537276
0.000226
0.27892
170.93
intron_variant
PLS_flank
ENSG00000172380
578
ENSG00000232284
328
328
ENSG00000232284
tss_proximal
ENSG00000172380
701
ENSG00000232284
455
455
ENSG00000232284
tss_proximal
tss_prox:b1
tss_prox:b1
1
67,887,776
G
A
false
distal
66
rs187032619
0.00004
0.001878
11.732
intron_variant
dELS
ENSG00000172380
54,308
ENSG00000232284
14,454
14,454
ENSG00000232284
dELS
ENSG00000172380
54,308
ENSG00000172380
54,339
54,308
ENSG00000172380
distal
NA
NA
1
67,888,240
A
G
false
distal
66
rs17130342
0.00003
0.018371
74.179
intron_variant
dELS
ENSG00000172380
54,772
ENSG00000232284
14,918
14,918
ENSG00000232284
dELS
ENSG00000172380
54,772
ENSG00000172380
54,803
54,772
ENSG00000172380
distal
NA
NA
1
67,888,513
T
C
false
distal
66
rs1344149
0.00003
0.018437
74.128
intron_variant
dELS
ENSG00000172380
55,045
ENSG00000232284
15,191
15,191
ENSG00000232284
dELS
ENSG00000172380
55,045
ENSG00000172380
55,076
55,045
ENSG00000172380
distal
NA
NA
1
67,888,932
C
T
false
distal
66
rs151046933
0.000017
0.002938
18.9
intron_variant
dELS
ENSG00000172380
55,464
ENSG00000232284
15,610
15,610
ENSG00000232284
dELS
ENSG00000172380
55,464
ENSG00000172380
55,495
55,464
ENSG00000172380
distal
NA
NA
1
67,889,049
G
C
false
distal
66
rs141295446
0.000325
0.012599
13.216
intron_variant
dELS
ENSG00000172380
55,581
ENSG00000232284
15,727
15,727
ENSG00000232284
dELS
ENSG00000172380
55,581
ENSG00000172380
55,612
55,581
ENSG00000172380
distal
NA
NA
1
68,047,216
C
A
false
missense_variant
87
rs35600387
0.0006
0.026909
64.505
missense_variant
missense_variant
ENSG00000162595
0
ENSG00000228431
2,143
0
ENSG00000162595
missense_variant
ENSG00000162595
3,410
ENSG00000228431
2,528
2,528
ENSG00000228431
missense_variant
NA
NA
1
68,050,752
T
C
false
5_prime_UTR_variant
127
rs982462
0.000027
0.008315
87.318
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000162595
0
ENSG00000228431
1,006
0
ENSG00000162595
5_prime_UTR_variant
ENSG00000162595
124
ENSG00000228431
1,006
124
ENSG00000162595
5_prime_UTR_variant
NA
NA
1
68,197,460
C
T
false
distal
13
rs919540
0.001431
0.33296
51.201
intron_variant
dELS_flank
ENSG00000116729
3,232
ENSG00000116729
3,232
3,232
ENSG00000116729
dELS_flank
ENSG00000116729
34,226
ENSG00000221203
13,849
13,849
ENSG00000221203
distal
NA
NA
1
68,199,340
T
C
true
distal
13
rs7554551
1
eBMD
0.34494
23.909
intron_variant
dELS_flank
ENSG00000116729
5,112
ENSG00000232284
2,628
2,628
ENSG00000232284
dELS_flank
ENSG00000116729
32,346
ENSG00000221203
15,729
15,729
ENSG00000221203
distal
NA
NA
1
68,280,186
G
A
false
distal
50
rs12022923
0.000021
0.27742
108.19
intergenic_variant
dELS
ENSG00000116729
47,065
ENSG00000225242
2,201
2,201
ENSG00000225242
dELS
ENSG00000116729
47,065
ENSG00000225242
2,201
2,201
ENSG00000225242
distal
NA
NA
1
69,103,460
T
C
false
distal
46
rs6671705
0.000012
0.43081
107.42
intron_variant
dELS
ENSG00000033122
464,461
ENSG00000223883
14,897
14,897
ENSG00000223883
dELS
ENSG00000033122
464,461
ENSG00000223883
47,556
47,556
ENSG00000223883
distal
NA
NA
1
70,106,915
C
A
false
tss_proximal
166
rs114602856
0.000015
0.008878
18.131
intron_variant
intron_variant
ENSG00000033122
836
ENSG00000033122
834
834
ENSG00000033122
tss_proximal
ENSG00000066557
98,663
ENSG00000033122
834
834
ENSG00000033122
tss_proximal
tss_prox:b2
tss_prox:b1
1
70,108,069
G
C
false
tss_proximal
166
rs143982089
0.000012
0.007987
23.929
intron_variant
intron_variant
ENSG00000033122
242
ENSG00000033122
242
242
ENSG00000033122
tss_proximal
ENSG00000066557
97,509
ENSG00000033122
318
318
ENSG00000033122
tss_proximal
tss_prox:b2
tss_prox:b1
1
70,421,416
A
G
false
distal
52
rs672203
0.000017
0.36302
98.764
intron_variant
dELS
ENSG00000116761
149
ENSG00000116761
149
149
ENSG00000116761
dELS
ENSG00000116761
10,032
ENSG00000278636
9,479
9,479
ENSG00000278636
distal
NA
NA
1
70,430,950
G
A
false
non_coding_transcript_exon_variant
117
rs148278621
0.000014
0.05715
48.225
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000116761
555
ENSG00000278636
0
0
ENSG00000278636
non_coding_transcript_exon_variant
ENSG00000116761
19,566
ENSG00000278636
53
53
ENSG00000278636
non_coding_transcript_exon_variant
NA
NA
1
70,947,757
A
G
false
tss_proximal
179
rs1409984
0.000212
0.14831
156.35
intron_variant
pELS
ENSG00000050628
4,674
ENSG00000235782
281
281
ENSG00000235782
tss_proximal
ENSG00000050628
99,875
ENSG00000235782
377
377
ENSG00000235782
tss_proximal
tss_prox:b2
tss_prox:b2
1
74,109,498
C
T
false
missense_variant
85
rs1340472
0.000013
0.07264
154.37
missense_variant
missense_variant
ENSG00000162620
0
ENSG00000162620
0
0
ENSG00000162620
missense_variant
ENSG00000162620
34,707
ENSG00000162620
46,350
34,707
ENSG00000162620
missense_variant
NA
NA
1
74,623,227
A
G
false
missense_variant
89
rs1417586
0.000018
0.1057
91.607
missense_variant
missense_variant
ENSG00000178965
2,312
ENSG00000234497
0
0
ENSG00000234497
missense_variant
ENSG00000178965
11,627
ENSG00000178965
11,513
11,513
ENSG00000178965
missense_variant
NA
NA
1
74,708,200
A
G
false
non_coding_transcript_exon_variant
117
rs60887187
0.000057
0.051747
61.535
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000116791
995
ENSG00000116791
0
0
ENSG00000116791
non_coding_transcript_exon_variant
ENSG00000116791
24,610
ENSG00000116791
626
626
ENSG00000116791
non_coding_transcript_exon_variant
NA
NA
1
75,254,995
A
G
false
distal
149
rs191242429
0.000033
0.002102
50.132
intron_variant
intron_variant
ENSG00000137968
3,700
ENSG00000137968
3,700
3,700
ENSG00000137968
intron_variant
ENSG00000162624
120,606
ENSG00000206999
71,949
71,949
ENSG00000206999
distal
NA
NA
1
75,255,024
A
G
false
distal
149
rs74371152
0.000016
0.001484
7.6697
intron_variant
intron_variant
ENSG00000137968
3,729
ENSG00000137968
3,729
3,729
ENSG00000137968
intron_variant
ENSG00000162624
120,635
ENSG00000206999
71,978
71,978
ENSG00000206999
distal
NA
NA
1
75,255,479
A
T
false
distal
149
rs142569403
0.000168
0.013158
43.463
intron_variant
intron_variant
ENSG00000137968
4,184
ENSG00000137968
4,184
4,184
ENSG00000137968
intron_variant
ENSG00000162624
121,090
ENSG00000206999
72,433
72,433
ENSG00000206999
distal
NA
NA
1
75,538,967
C
T
false
tss_proximal
179
rs4080327
0.000027
0.15021
198.35
intron_variant
pELS_flank
ENSG00000137968
2,467
ENSG00000252338
847
847
ENSG00000252338
tss_proximal
ENSG00000137968
72,116
ENSG00000252338
847
847
ENSG00000252338
tss_proximal
tss_prox:b2
tss_prox:b2
1
75,539,093
T
A
false
tss_proximal
179
rs17375756
0.000027
0.15021
198.35
intron_variant
pELS_flank
ENSG00000137968
2,341
ENSG00000252338
973
973
ENSG00000252338
tss_proximal
ENSG00000137968
71,990
ENSG00000252338
973
973
ENSG00000252338
tss_proximal
tss_prox:b2
tss_prox:b2
1
75,765,382
G
A
false
distal
13
rs6593515
0.000754
0.34
400.59
intron_variant
dELS_flank
ENSG00000117054
1,661
ENSG00000117054
1,661
1,661
ENSG00000117054
dELS_flank
ENSG00000137955
20,848
ENSG00000117054
14,930
14,930
ENSG00000117054
distal
NA
NA
1
75,932,287
C
T
false
missense_variant
96
rs3795251
0.000032
0.37954
349.28
missense_variant
missense_variant
ENSG00000154007
0
ENSG00000225605
166
0
ENSG00000154007
missense_variant
ENSG00000154007
116
ENSG00000225605
166
116
ENSG00000154007
missense_variant
NA
NA
1
76,303,045
G
A
false
distal
27
rs12407837
0.000028
0.22553
62.635
intron_variant
dELS
ENSG00000184005
10,754
ENSG00000184005
10,867
10,754
ENSG00000184005
dELS
ENSG00000184005
10,754
ENSG00000184005
10,867
10,754
ENSG00000184005
distal
NA
NA
1
76,303,048
C
A
false
distal
27
rs200800502
0.000028
0.22553
62.635
intron_variant
dELS
ENSG00000184005
10,751
ENSG00000184005
10,864
10,751
ENSG00000184005
dELS
ENSG00000184005
10,751
ENSG00000184005
10,864
10,751
ENSG00000184005
distal
NA
NA
1
77,128,431
C
G
false
tss_proximal
178
rs55957022
0.000169
0.035561
156.53
intron_variant
intron_variant
ENSG00000142892
6,071
ENSG00000226084
682
682
ENSG00000226084
tss_proximal
ENSG00000142892
90,997
ENSG00000226084
682
682
ENSG00000226084
tss_proximal
tss_prox:b2
tss_prox:b2
1
77,128,921
T
C
false
tss_proximal
178
rs72681900
0.000065
0.031347
164.29
intron_variant
intron_variant
ENSG00000142892
6,561
ENSG00000226084
192
192
ENSG00000226084
tss_proximal
ENSG00000142892
90,507
ENSG00000226084
192
192
ENSG00000226084
tss_proximal
tss_prox:b2
tss_prox:b2
1
77,245,545
C
T
false
distal
16
rs145702072
0.000029
0.001329
20.943
intergenic_variant
dELS_flank
ENSG00000142892
26,114
ENSG00000287870
3,087
3,087
ENSG00000287870
dELS_flank
ENSG00000142892
26,114
ENSG00000287870
3,087
3,087
ENSG00000287870
distal
NA
NA
1
77,270,824
C
G
false
distal
27
rs2815332
0.000426
0.22643
150.54
intergenic_variant
dELS
ENSG00000154027
11,194
ENSG00000154027
11,233
11,194
ENSG00000154027
dELS
ENSG00000154027
11,194
ENSG00000154027
11,233
11,194
ENSG00000154027
distal
NA
NA
1
77,542,967
C
A
false
distal
64
rs12724560
0.000055
0.21533
213.73
intron_variant
dELS
ENSG00000154027
6,928
ENSG00000154027
2,277
2,277
ENSG00000154027
dELS
ENSG00000154027
10,859
ENSG00000154027
2,470
2,470
ENSG00000154027
distal
NA
NA
1
77,632,318
A
T
false
missense_variant
106
rs41292270
0.000264
0.025593
55.377
missense_variant
missense_variant
ENSG00000036549
0
ENSG00000036549
0
0
ENSG00000036549
missense_variant
ENSG00000036549
50,339
ENSG00000036549
396
396
ENSG00000036549
missense_variant
NA
NA
1
77,632,718
T
C
false
missense_variant
106
rs34535037
0.000047
0.012616
60.633
missense_variant
missense_variant
ENSG00000036549
0
ENSG00000036549
0
0
ENSG00000036549
missense_variant
ENSG00000036549
49,939
ENSG00000036549
157
157
ENSG00000036549
missense_variant
NA
NA
1
77,776,953
A
G
false
distal
56
rs2147318
0.002342
0.22475
260.63
intergenic_variant
dELS
ENSG00000180488
2,670
ENSG00000232672
2,088
2,088
ENSG00000232672
dELS
ENSG00000180488
2,670
ENSG00000232672
2,088
2,088
ENSG00000232672
distal
NA
NA
1
77,898,142
C
T
false
distal
146
rs151034482
0.000105
0.022376
173.69
intron_variant
intron_variant
ENSG00000162614
9,382
ENSG00000235927
8,602
8,602
ENSG00000235927
intron_variant
ENSG00000162614
9,479
ENSG00000235927
8,602
8,602
ENSG00000235927
distal
NA
NA
1
77,971,031
C
A
false
distal
6
rs72685364
0.000484
0.13386
242.94
intron_variant
dELS_flank
ENSG00000162613
1,015
ENSG00000162613
1,015
1,015
ENSG00000162613
dELS_flank
ENSG00000162613
8,040
ENSG00000162613
8,055
8,040
ENSG00000162613
distal
NA
NA
1
77,984,833
C
A
true
distal
45
rs34517439
0.999775
ALP,BW,Height
0.12432
131.78
intron_variant
dELS
ENSG00000162616
4,510
ENSG00000162616
3,530
3,530
ENSG00000162616
dELS
ENSG00000162616
4,648
ENSG00000137960
5,290
4,648
ENSG00000162616
distal
NA
NA
1
78,482,226
G
A
false
distal
146
rs77707038
0.002413
0.027457
64.037
intron_variant
intron_variant
ENSG00000122420
8,747
ENSG00000122420
8,845
8,747
ENSG00000122420
intron_variant
ENSG00000122420
8,747
ENSG00000122420
8,845
8,747
ENSG00000122420
distal
NA
NA
1
78,629,997
A
G
false
missense_variant
72
rs185745103
0.000709
0.003955
10.241
missense_variant
missense_variant
ENSG00000137959
0
ENSG00000137959
81
0
ENSG00000137959
missense_variant
ENSG00000137959
2,011
ENSG00000137959
361
361
ENSG00000137959
missense_variant
NA
NA
1
78,657,409
G
A
false
distal
145
rs7514391
0.000054
0.41344
110.69
intron_variant
intron_variant
ENSG00000137965
1,897
ENSG00000137965
1,897
1,897
ENSG00000137965
intron_variant
ENSG00000137965
5,325
ENSG00000137965
1,909
1,909
ENSG00000137965
distal
NA
NA
1
78,946,283
C
A
true
missense_variant
84
rs41313381
0.99995
Neutro,WBC
0.031176
43.284
missense_variant
missense_variant
ENSG00000162618
0
ENSG00000162618
0
0
ENSG00000162618
missense_variant
ENSG00000162618
28,397
ENSG00000162618
23,954
23,954
ENSG00000162618
missense_variant
NA
NA
1
79,020,326
T
C
false
distal
28
rs6693037
0.000022
0.2257
101.79
intron_variant
dELS
ENSG00000162618
4,840
ENSG00000162618
3,330
3,330
ENSG00000162618
dELS
ENSG00000162618
7,884
ENSG00000162618
7,896
7,884
ENSG00000162618
distal
NA
NA
1
79,189,417
A
C
false
tss_proximal
140
rs17590370
0.000081
0.060285
106.6
intron_variant
dELS_flank
ENSG00000162618
933
ENSG00000162618
943
933
ENSG00000162618
tss_proximal
ENSG00000162618
933
ENSG00000162618
943
933
ENSG00000162618
tss_proximal
tss_prox:b1
tss_prox:b1
1
81,875,183
G
T
false
distal
68
rs113466679
0.000011
0.021344
46.938
intron_variant
dELS
ENSG00000117114
31,833
ENSG00000117114
31,833
31,833
ENSG00000117114
dELS
ENSG00000117114
67,785
ENSG00000117114
74,215
67,785
ENSG00000117114
distal
NA
NA
1
81,876,651
T
C
false
distal
68
rs72717787
0.000023
0.023914
33.889
intron_variant
dELS
ENSG00000117114
30,365
ENSG00000117114
30,365
30,365
ENSG00000117114
dELS
ENSG00000117114
66,317
ENSG00000117114
75,683
66,317
ENSG00000117114
distal
NA
NA
1
81,966,500
G
T
false
missense_variant
113
rs141656433
0.000045
0.000757
6.6418
missense_variant
missense_variant
ENSG00000117114
0
ENSG00000117114
0
0
ENSG00000117114
missense_variant
ENSG00000117114
13,388
ENSG00000117114
645
645
ENSG00000117114
missense_variant
NA
NA
1
81,990,901
G
A
false
missense_variant
99
rs41292984
0.000019
0.033395
71.142
missense_variant
missense_variant
ENSG00000117114
0
ENSG00000117114
0
0
ENSG00000117114
missense_variant
ENSG00000117114
11,011
ENSG00000117114
2,508
2,508
ENSG00000117114
missense_variant
NA
NA
1
81,998,345
T
G
false
distal
51
rs12041960
0.000044
0.15681
121.05
intergenic_variant
dELS
ENSG00000117114
4,412
ENSG00000117114
5,908
4,412
ENSG00000117114
dELS
ENSG00000117114
18,455
ENSG00000117114
9,952
9,952
ENSG00000117114
distal
NA
NA
1
82,504,087
A
G
false
distal
46
rs12734849
0.000064
0.49676
77.916
intron_variant
dELS
ENSG00000117114
510,154
ENSG00000233290
16,762
16,762
ENSG00000233290
dELS
ENSG00000117114
524,197
ENSG00000233290
51,463
51,463
ENSG00000233290
distal
NA
NA
1
82,505,303
C
T
false
distal
46
rs978593
0.00008
0.49651
78.118
intron_variant
dELS
ENSG00000117114
511,370
ENSG00000233290
17,978
17,978
ENSG00000233290
dELS
ENSG00000117114
525,413
ENSG00000233290
50,247
50,247
ENSG00000233290
distal
NA
NA
1
83,910,225
T
C
false
distal
12
rs138453060
0.000019
0.008984
15.654
intron_variant
dELS_flank
ENSG00000137941
939
ENSG00000137941
939
939
ENSG00000137941
dELS_flank
ENSG00000137941
88,906
ENSG00000137941
2,689
2,689
ENSG00000137941
distal
NA
NA
1
83,910,457
T
C
false
distal
12
rs74346130
0.000023
0.012988
45.571
intron_variant
dELS_flank
ENSG00000137941
707
ENSG00000137941
707
707
ENSG00000137941
dELS_flank
ENSG00000137941
88,674
ENSG00000137941
2,522
2,522
ENSG00000137941
distal
NA
NA
1
83,951,902
T
C
false
missense_variant
106
rs41293013
0.003339
0.014266
38.935
missense_variant
missense_variant
ENSG00000137941
0
ENSG00000137941
0
0
ENSG00000137941
missense_variant
ENSG00000137941
47,229
ENSG00000137941
24
24
ENSG00000137941
missense_variant
NA
NA
1
84,398,573
G
C
false
missense_variant
74
rs3738573
0.000138
0.34293
87.44
missense_variant
missense_variant
ENSG00000137976
0
ENSG00000240520
741
0
ENSG00000137976
missense_variant
ENSG00000137976
88
ENSG00000240520
741
88
ENSG00000137976
missense_variant
NA
NA
1
84,458,893
G
A
false
distal
156
rs34760754
0.000019
0.33405
127.53
intergenic_variant
intergenic_variant
ENSG00000117133
20,365
ENSG00000285361
18,145
18,145
ENSG00000285361
intergenic_variant
ENSG00000117133
20,365
ENSG00000285361
18,145
18,145
ENSG00000285361
distal
NA
NA
1
84,503,066
G
T
false
tss_proximal
181
rs17110519
0.001532
0.18541
165.1
intron_variant
dELS_flank
ENSG00000174021
1,095
ENSG00000174021
579
579
ENSG00000174021
tss_proximal
ENSG00000174021
3,206
ENSG00000174021
766
766
ENSG00000174021
tss_proximal
tss_prox:b2
tss_prox:b2
1
84,504,424
A
G
false
tss_proximal
181
rs3813607
0.001645
0.18539
165.11
intron_variant
pELS
ENSG00000174021
1,586
ENSG00000174021
590
590
ENSG00000174021
tss_proximal
ENSG00000174021
1,848
ENSG00000174021
590
590
ENSG00000174021
tss_proximal
tss_prox:b2
tss_prox:b2
1
84,506,416
G
T
false
splicing
183
rs2271620
0.001487
0.18538
165.14
splice_region_variant
splice_region_variant
ENSG00000174021
0
ENSG00000122432
0
0
ENSG00000174021
splice_region_variant
ENSG00000122432
29
ENSG00000122432
18
18
ENSG00000122432
splicing
NA
splicing:b0
1
84,584,041
C
T
false
distal
52
rs2943677
0.00003
0.34752
198.68
downstream_gene_variant
dELS
ENSG00000117151
9,600
ENSG00000284882
420
420
ENSG00000284882
dELS
ENSG00000117151
9,600
ENSG00000284882
9,455
9,455
ENSG00000284882
distal
NA
NA
1
84,585,185
G
C
false
distal
52
rs2945160
0.000028
0.34824
198.19
intergenic_variant
dELS
ENSG00000117151
10,744
ENSG00000284882
1,564
1,564
ENSG00000284882
dELS
ENSG00000117151
10,744
ENSG00000284882
10,599
10,599
ENSG00000284882
distal
NA
NA
1
84,751,548
T
C
false
distal
157
rs11161445
0.000028
0.25885
47.063
intergenic_variant
intergenic_variant
ENSG00000171517
60,053
ENSG00000285325
33,878
33,878
ENSG00000285325
intergenic_variant
ENSG00000117155
60,744
ENSG00000285325
33,878
33,878
ENSG00000285325
distal
NA
NA
1
84,796,242
A
G
false
distal
26
rs4907097
0.000027
0.38805
61.142
intergenic_variant
dELS
ENSG00000171517
15,359
ENSG00000285325
9,527
9,527
ENSG00000285325
dELS
ENSG00000171517
69,916
ENSG00000285325
10,814
10,814
ENSG00000285325
distal
NA
NA
1
84,957,858
A
T
false
distal
171
rs498429
0.00218
0.34052
189.46
intron_variant
CA-CTCF_flank
ENSG00000153898
670
ENSG00000153898
670
670
ENSG00000153898
CA-CTCF_flank
ENSG00000153898
39,253
ENSG00000153898
28,013
28,013
ENSG00000153898
distal
NA
NA
1
84,958,796
A
G
false
distal
171
rs674182
0.002164
0.34053
189.47
intron_variant
CA-CTCF_flank
ENSG00000153898
93
ENSG00000153898
93
93
ENSG00000153898
CA-CTCF_flank
ENSG00000153898
38,315
ENSG00000153898
28,951
28,951
ENSG00000153898
distal
NA
NA
1
84,997,089
G
C
false
5_prime_UTR_variant
129
rs114037164
0.000135
0.073654
97.438
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000153898
0
ENSG00000153898
0
0
ENSG00000153898
5_prime_UTR_variant
ENSG00000153898
22
ENSG00000153898
23
22
ENSG00000153898
5_prime_UTR_variant
NA
NA
1
85,071,948
C
G
false
missense_variant
73
rs148724953
0.00004
0.00935
17.072
missense_variant
missense_variant
ENSG00000162643
0
ENSG00000162643
0
0
ENSG00000162643
missense_variant
ENSG00000162643
9,620
ENSG00000162643
9,561
9,561
ENSG00000162643
missense_variant
NA
NA
1
85,190,248
C
T
false
missense_variant
73
rs61756695
0.000033
0.019093
47.561
missense_variant
missense_variant
ENSG00000097096
0
ENSG00000097096
0
0
ENSG00000097096
missense_variant
ENSG00000097096
10,767
ENSG00000097096
10,264
10,264
ENSG00000097096
missense_variant
NA
NA
1
85,276,581
G
C
false
5_prime_UTR_variant
129
rs61771973
0.00003
0.074355
138.54
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000142867
0
ENSG00000223653
0
0
ENSG00000142867
5_prime_UTR_variant
ENSG00000142867
50
ENSG00000223653
133
50
ENSG00000142867
5_prime_UTR_variant
NA
NA
1
85,412,525
C
T
false
distal
1
rs12138852
0.00249
0.2136
167.54
intron_variant
dELS_flank
ENSG00000153904
7,996
ENSG00000223653
12,561
7,996
ENSG00000153904
dELS_flank
ENSG00000153904
7,996
ENSG00000199459
22,758
7,996
ENSG00000153904
distal
NA
NA
1
85,413,930
A
C
false
distal
1
rs12132677
0.002832
0.21394
167.37
intron_variant
dELS_flank
ENSG00000153904
9,401
ENSG00000223653
13,966
9,401
ENSG00000153904
dELS_flank
ENSG00000153904
9,401
ENSG00000199459
21,353
9,401
ENSG00000153904
distal
NA
NA
1
85,432,360
C
T
false
distal
16
rs142648243
0.000015
0.003009
8.2247
intron_variant
dELS_flank
ENSG00000153904
27,831
ENSG00000199459
2,814
2,814
ENSG00000199459
dELS_flank
ENSG00000153904
27,831
ENSG00000199459
2,923
2,923
ENSG00000199459
distal
NA
NA
1
85,436,236
A
T
false
tss_proximal
176
rs483530
0.000057
0.4617
190.66
intron_variant
CA_flank
ENSG00000153904
28,506
ENSG00000199459
951
951
ENSG00000199459
tss_proximal
ENSG00000153904
28,922
ENSG00000199459
951
951
ENSG00000199459
tss_proximal
tss_prox:b2
tss_prox:b2
1
85,436,686
T
C
false
distal
22
rs189476526
0.000052
0.003222
6.5559
intron_variant
dELS_flank
ENSG00000153904
28,056
ENSG00000199459
1,401
1,401
ENSG00000199459
dELS_flank
ENSG00000153904
28,472
ENSG00000199459
1,401
1,401
ENSG00000199459
distal
NA
NA
1
85,660,070
A
G
false
distal
31
rs10493773
0.000158
0.28363
187.71
intron_variant
dELS
ENSG00000117174
2,098
ENSG00000230285
59,335
2,098
ENSG00000117174
dELS
ENSG00000117174
48,362
ENSG00000230285
60,938
48,362
ENSG00000117174
distal
NA
NA
1
85,736,419
C
A
false
missense_variant
89
rs12037785
0.000007
0.10087
73.474
missense_variant
missense_variant
ENSG00000171502
976
ENSG00000171502
0
0
ENSG00000171502
missense_variant
ENSG00000117174
27,985
ENSG00000171502
8,329
8,329
ENSG00000171502
missense_variant
NA
NA
1
86,150,943
A
G
false
distal
45
rs113470777
0.000029
0.12298
97.409
intron_variant
dELS
ENSG00000171502
4,759
ENSG00000171502
3,129
3,129
ENSG00000171502
dELS
ENSG00000171502
5,828
ENSG00000171502
5,819
5,819
ENSG00000171502
distal
NA
NA
1
86,382,336
C
T
false
missense_variant
113
rs12032435
0.00002
0.001101
76.756
missense_variant
missense_variant
ENSG00000122417
0
ENSG00000122417
0
0
ENSG00000122417
missense_variant
ENSG00000122417
13,640
ENSG00000122417
742
742
ENSG00000122417
missense_variant
NA
NA
1
86,549,125
T
A
false
distal
151
rs72953587
0.000011
0.10239
106.47
intron_variant
pELS
ENSG00000016602
1,846
ENSG00000224466
3,499
1,846
ENSG00000016602
pELS
ENSG00000016602
2,046
ENSG00000224466
4,216
2,046
ENSG00000016602
distal
NA
NA
1
86,903,448
C
A
false
missense_variant
75
rs11555169
0.000016
0.015443
21.685
missense_variant
missense_variant
ENSG00000183291
0
ENSG00000183291
0
0
ENSG00000183291
missense_variant
ENSG00000183291
95
ENSG00000183291
10,616
95
ENSG00000183291
missense_variant
NA
NA
1
87,279,331
G
A
false
distal
66
rs34222540
0.000042
0.044363
22.844
intergenic_variant
dELS
ENSG00000143013
49,548
ENSG00000284240
14,589
14,589
ENSG00000284240
dELS
ENSG00000143013
49,548
ENSG00000143013
49,767
49,548
ENSG00000143013
distal
NA
NA
1
87,761,437
T
G
true
distal
14
rs41461152
0.9306
PrC
0.30707
50.805
intron_variant
dELS_flank
ENSG00000143013
412,513
ENSG00000237505
41,426
41,426
ENSG00000237505
dELS_flank
ENSG00000143013
429,768
ENSG00000279778
46,934
46,934
ENSG00000279778
distal
NA
NA
1
87,766,433
A
G
false
distal
14
rs305413
0.001388
0.2584
53.981
intron_variant
dELS_flank
ENSG00000143013
417,509
ENSG00000237505
36,430
36,430
ENSG00000237505
dELS_flank
ENSG00000143013
434,764
ENSG00000279778
41,938
41,938
ENSG00000279778
distal
NA
NA
1
88,175,380
A
G
true
distal
46
rs6428637
0.99399
Hb,Ht
0.42134
44.304
intron_variant
dELS
ENSG00000065243
508,841
ENSG00000237505
12,266
12,266
ENSG00000237505
dELS
ENSG00000065243
508,841
ENSG00000237505
52,916
52,916
ENSG00000237505
distal
NA
NA
1
88,175,851
A
T
false
distal
46
rs12725757
0.000629
0.35246
40.381
intron_variant
dELS
ENSG00000065243
508,370
ENSG00000237505
12,737
12,737
ENSG00000237505
dELS
ENSG00000065243
508,370
ENSG00000237505
52,445
52,445
ENSG00000237505
distal
NA
NA
1
88,726,947
G
A
false
distal
61
rs67944997
0.00016
0.017014
379.21
intron_variant
dELS
ENSG00000065243
14,040
ENSG00000237505
41,742
14,040
ENSG00000065243
dELS
ENSG00000065243
42,373
ENSG00000237505
41,742
41,742
ENSG00000237505
distal
NA
NA
1
88,728,235
C
T
false
distal
61
rs6684950
0.000154
0.017007
379.17
intron_variant
dELS
ENSG00000065243
12,752
ENSG00000237505
43,030
12,752
ENSG00000065243
dELS
ENSG00000065243
43,219
ENSG00000237505
43,030
43,030
ENSG00000237505
distal
NA
NA
1
88,827,684
C
A
false
distal
145
rs7534763
0.005412
0.41892
302.26
intron_variant
intron_variant
ENSG00000065243
796
ENSG00000241975
1,417
796
ENSG00000065243
intron_variant
ENSG00000065243
3,337
ENSG00000241975
1,417
1,417
ENSG00000241975
distal
NA
NA
1
89,007,770
A
G
false
missense_variant
75
rs114910977
0.000042
0.016522
51.157
missense_variant
missense_variant
ENSG00000117226
0
ENSG00000117226
0
0
ENSG00000117226
missense_variant
ENSG00000117226
4,064
ENSG00000202385
12,594
4,064
ENSG00000117226
missense_variant
NA
NA
1
89,044,514
G
A
false
distal
162
rs1886912
0.000316
0.1743
150.18
intergenic_variant
intergenic_variant
ENSG00000117228
7,804
ENSG00000117228
7,367
7,367
ENSG00000117228
intergenic_variant
ENSG00000117228
20,693
ENSG00000117228
10,826
10,826
ENSG00000117228
distal
NA
NA
1
89,058,974
C
G
false
missense_variant
99
rs17130717
0.000271
0.033576
36.129
missense_variant
missense_variant
ENSG00000117228
0
ENSG00000117228
0
0
ENSG00000117228
missense_variant
ENSG00000117228
6,233
ENSG00000117228
1,302
1,302
ENSG00000117228
missense_variant
NA
NA
1
89,114,258
T
C
false
missense_variant
105
rs2230338
0.000318
0.33998
272.7
missense_variant
missense_variant
ENSG00000162645
0
ENSG00000162645
0
0
ENSG00000162645
missense_variant
ENSG00000162645
11,855
ENSG00000162645
1,207
1,207
ENSG00000162645
missense_variant
NA
NA
1
89,117,007
G
C
false
missense_variant
105
rs1803632
0.000473
0.34047
273.73
missense_variant
missense_variant
ENSG00000162645
0
ENSG00000162645
0
0
ENSG00000162645
missense_variant
ENSG00000162645
9,106
ENSG00000162645
3,212
3,212
ENSG00000162645
missense_variant
NA
NA