Datasets:
marin-dna
/
evals_complex_traits

Dataset card Data Studio Files
xet
 Community
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
15,857,317
G
A
false
distal
25
rs61782193
0.000136
0.23216
179.44
intron_variant
dELS_flank
ENSG00000065526
9,166
ENSG00000179743
9,169
9,166
ENSG00000065526
dELS_flank
ENSG00000065526
9,609
ENSG00000179743
9,169
9,169
ENSG00000179743
distal
NA
NA
1
15,986,295
C
T
false
distal
20
rs148659415
0.000124
0.047057
43.207
intergenic_variant
dELS_flank
ENSG00000116809
10,162
ENSG00000231353
1,886
1,886
ENSG00000231353
dELS_flank
ENSG00000116809
10,162
ENSG00000231353
1,886
1,886
ENSG00000231353
distal
NA
NA
1
16,019,240
C
T
false
missense_variant
108
rs1544131
0.000194
0.062457
120.82
missense_variant
missense_variant
ENSG00000173641
0
ENSG00000186510
265
0
ENSG00000173641
missense_variant
ENSG00000173641
353
ENSG00000186510
364
353
ENSG00000173641
missense_variant
NA
NA
1
16,024,780
A
G
false
missense_variant
101
rs10927887
0.001372
0.44276
192.78
missense_variant
missense_variant
ENSG00000186510
0
ENSG00000186510
0
0
ENSG00000186510
missense_variant
ENSG00000186510
2,743
ENSG00000186510
2,058
2,058
ENSG00000186510
missense_variant
NA
NA
1
16,033,642
C
T
false
missense_variant
83
rs12746751
0.004691
0.10109
222.45
missense_variant
missense_variant
ENSG00000186510
0
ENSG00000186510
0
0
ENSG00000186510
missense_variant
ENSG00000184908
6,609
ENSG00000232456
6,386
6,386
ENSG00000232456
missense_variant
NA
NA
1
16,040,349
T
C
false
5_prime_UTR_variant
128
rs150319503
0.000442
0.001189
3.8973
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000184908
0
ENSG00000232456
319
0
ENSG00000184908
5_prime_UTR_variant
ENSG00000184908
9
ENSG00000232456
319
9
ENSG00000184908
5_prime_UTR_variant
NA
NA
1
16,040,844
G
A
false
tss_proximal
143
rs9442193
0.001015
0.40858
184.26
intron_variant
pELS
ENSG00000184908
140
ENSG00000184908
148
140
ENSG00000184908
tss_proximal
ENSG00000184908
140
ENSG00000184908
148
140
ENSG00000184908
tss_proximal
tss_prox:b1
tss_prox:b1
1
16,046,787
A
G
false
tss_proximal
165
rs2095540
0.001571
0.19474
228.53
intron_variant
pELS_flank
ENSG00000184908
123
ENSG00000184908
65
65
ENSG00000184908
tss_proximal
ENSG00000184908
2,001
ENSG00000184908
963
963
ENSG00000184908
tss_proximal
tss_prox:b2
tss_prox:b1
1
16,066,898
T
A
false
distal
28
rs11590986
0.001781
0.22524
168.96
intron_variant
dELS
ENSG00000185519
3,261
ENSG00000185519
4,363
3,261
ENSG00000185519
dELS
ENSG00000185519
6,752
ENSG00000185519
6,733
6,733
ENSG00000185519
distal
NA
NA
1
16,073,889
C
A
false
tss_proximal
139
rs7537484
0.008072
0.31797
184.43
upstream_gene_variant
pELS
ENSG00000185519
237
ENSG00000185519
256
237
ENSG00000185519
tss_proximal
ENSG00000185519
237
ENSG00000185519
256
237
ENSG00000185519
tss_proximal
tss_prox:b1
tss_prox:b1
1
16,090,531
G
A
false
distal
35
rs28429281
0.002683
0.41818
178.43
intergenic_variant
dELS
ENSG00000185519
16,879
ENSG00000185519
16,898
16,879
ENSG00000185519
dELS
ENSG00000185519
16,879
ENSG00000185519
16,898
16,879
ENSG00000185519
distal
NA
NA
1
16,091,497
C
T
false
distal
35
rs28395220
0.003317
0.41757
178.74
intergenic_variant
dELS
ENSG00000185519
17,845
ENSG00000185519
17,864
17,845
ENSG00000185519
dELS
ENSG00000185519
17,845
ENSG00000185519
17,864
17,845
ENSG00000185519
distal
NA
NA
1
16,178,825
A
G
true
distal
35
rs1497406
0.98818
GGT
0.41997
186.1
intergenic_variant
dELS
ENSG00000142632
19,028
ENSG00000224621
16,941
16,941
ENSG00000224621
dELS
ENSG00000142627
22,755
ENSG00000234166
19,028
19,028
ENSG00000234166
distal
NA
NA
1
16,938,395
T
G
false
splicing
184
rs72644310
0.000117
0.074337
96.96
splice_region_variant
splice_region_variant
ENSG00000058453
4
ENSG00000058453
4
4
ENSG00000058453
splice_region_variant
ENSG00000058453
1,603
ENSG00000058453
513
513
ENSG00000058453
splicing
NA
splicing:b0
1
17,000,272
C
T
false
missense_variant
82
rs56367069
0.000119
0.016741
46.112
missense_variant
missense_variant
ENSG00000159363
0
ENSG00000159363
0
0
ENSG00000159363
missense_variant
ENSG00000159363
39
ENSG00000159363
18
18
ENSG00000159363
missense_variant
NA
NA
1
17,016,703
C
T
false
distal
19
rs61769180
0.000097
0.10559
84.006
intergenic_variant
dELS_flank
ENSG00000117118
2,018
ENSG00000117118
2,048
2,018
ENSG00000117118
dELS_flank
ENSG00000159363
4,774
ENSG00000117118
6,332
4,774
ENSG00000159363
distal
NA
NA
1
17,066,188
A
G
false
distal
24
rs1569753
0.000151
0.09902
90.513
downstream_gene_variant
dELS_flank
ENSG00000117115
572
ENSG00000117115
1,411
572
ENSG00000117115
dELS_flank
ENSG00000117118
12,155
ENSG00000117115
9,162
9,162
ENSG00000117115
distal
NA
NA
1
17,232,377
G
A
false
distal
30
rs58217427
0.000025
0.052812
26.789
intron_variant
dELS
ENSG00000142623
441
ENSG00000142623
6,218
441
ENSG00000142623
dELS
ENSG00000142619
16,720
ENSG00000142623
7,254
7,254
ENSG00000142623
distal
NA
NA
1
17,233,256
A
C
false
distal
30
rs74058992
0.000049
0.061068
24.14
intron_variant
dELS
ENSG00000142623
285
ENSG00000142623
6,375
285
ENSG00000142623
dELS
ENSG00000142619
15,841
ENSG00000142623
6,375
6,375
ENSG00000142623
distal
NA
NA
1
17,272,949
C
T
false
distal
33
rs2977293
0.000047
0.22622
88.087
intron_variant
dELS
ENSG00000142619
390
ENSG00000266634
4,939
390
ENSG00000142619
dELS
ENSG00000142619
23,850
ENSG00000266634
4,939
4,939
ENSG00000266634
distal
NA
NA
1
17,348,106
C
T
false
non_coding_transcript_exon_variant
117
rs1635570
0.000297
0.049424
70.277
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000159339
57
ENSG00000159339
0
0
ENSG00000159339
non_coding_transcript_exon_variant
ENSG00000276747
24,089
ENSG00000159339
178
178
ENSG00000159339
non_coding_transcript_exon_variant
NA
NA
1
17,388,476
G
A
false
missense_variant
90
rs74834315
0.000056
0.000999
4.5442
missense_variant
missense_variant
ENSG00000276747
0
ENSG00000227751
18,283
0
ENSG00000276747
missense_variant
ENSG00000276747
16,279
ENSG00000227751
18,283
16,279
ENSG00000276747
missense_variant
NA
NA
1
17,388,520
C
G
false
missense_variant
90
rs200922673
0.000064
0.001323
5.022
missense_variant
missense_variant
ENSG00000276747
0
ENSG00000227751
18,239
0
ENSG00000276747
missense_variant
ENSG00000276747
16,323
ENSG00000227751
18,239
16,323
ENSG00000276747
missense_variant
NA
NA
1
17,439,634
G
A
false
5_prime_UTR_variant
128
rs12097465
0.000019
0.001088
41.336
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000179051
0
ENSG00000290096
305
0
ENSG00000179051
5_prime_UTR_variant
ENSG00000179051
42
ENSG00000290096
305
42
ENSG00000179051
5_prime_UTR_variant
NA
NA
1
17,581,682
A
T
false
distal
150
rs12026569
0.000038
0.031578
16.624
intron_variant
pELS
ENSG00000074964
1,049
ENSG00000074964
20,488
1,049
ENSG00000074964
pELS
ENSG00000074964
1,128
ENSG00000074964
20,488
1,128
ENSG00000074964
distal
NA
NA
1
18,060,816
G
A
false
distal
50
rs9659407
0.000036
0.26126
77.371
intergenic_variant
dELS
ENSG00000117154
46,981
ENSG00000261781
4,840
4,840
ENSG00000261781
dELS
ENSG00000117154
46,981
ENSG00000261781
4,840
4,840
ENSG00000261781
distal
NA
NA
1
18,171,409
T
C
false
distal
59
rs12735570
0.000021
0.078228
22.344
intron_variant
dELS
ENSG00000117154
56,488
ENSG00000230035
3,645
3,645
ENSG00000230035
dELS
ENSG00000117154
63,610
ENSG00000230035
7,936
7,936
ENSG00000230035
distal
NA
NA
1
18,303,612
G
A
false
distal
71
rs1533345
0.000093
0.15505
45.265
intron_variant
dELS
ENSG00000117154
11,624
ENSG00000117154
11,624
11,624
ENSG00000117154
dELS
ENSG00000179023
177,317
ENSG00000117154
24,766
24,766
ENSG00000117154
distal
NA
NA
1
18,385,667
C
T
false
tss_proximal
179
rs11809479
0.000017
0.14782
35.944
upstream_gene_variant
pELS
ENSG00000117154
7,183
ENSG00000225387
161
161
ENSG00000225387
tss_proximal
ENSG00000179023
95,262
ENSG00000225387
161
161
ENSG00000225387
tss_proximal
tss_prox:b2
tss_prox:b2
1
18,631,052
G
A
false
5_prime_UTR_variant
126
rs2255640
0.000018
0.091932
58.339
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000009709
0
ENSG00000225478
35,415
0
ENSG00000009709
5_prime_UTR_variant
ENSG00000009709
45
ENSG00000225478
35,637
45
ENSG00000009709
5_prime_UTR_variant
NA
NA
1
18,859,635
G
C
false
missense_variant
114
rs9701796
0.000025
0.21378
30.808
missense_variant
missense_variant
ENSG00000179002
0
ENSG00000159423
22,924
0
ENSG00000179002
missense_variant
ENSG00000179002
24
ENSG00000265606
23,639
24
ENSG00000179002
missense_variant
NA
NA
1
19,113,889
G
C
false
missense_variant
78
rs113498244
0.000032
0.009617
98.997
missense_variant
missense_variant
ENSG00000127481
0
ENSG00000127481
1,201
0
ENSG00000127481
missense_variant
ENSG00000127481
4,959
ENSG00000127481
1,201
1,201
ENSG00000127481
missense_variant
NA
NA
1
19,140,373
C
T
false
distal
18
rs138654385
0.000064
0.006727
20.386
intron_variant
dELS_flank
ENSG00000127481
414
ENSG00000127481
4,478
414
ENSG00000127481
dELS_flank
ENSG00000127481
11,326
ENSG00000127481
5,754
5,754
ENSG00000127481
distal
NA
NA
1
19,173,066
T
C
false
missense_variant
93
rs16862578
0.000952
0.15729
132.39
missense_variant
missense_variant
ENSG00000127481
0
ENSG00000127481
0
0
ENSG00000127481
missense_variant
ENSG00000127481
5,010
ENSG00000127481
4,678
4,678
ENSG00000127481
missense_variant
NA
NA
1
19,310,497
A
G
false
distal
163
rs2002846
0.000027
0.42399
141.79
intron_variant
pELS_flank
ENSG00000053371
1,329
ENSG00000053371
1,329
1,329
ENSG00000053371
pELS_flank
ENSG00000053371
1,409
ENSG00000053371
1,605
1,409
ENSG00000053371
distal
NA
NA
1
19,312,063
G
T
false
missense_variant
108
rs148182255
0.000095
0.059931
196.21
missense_variant
missense_variant
ENSG00000053371
0
ENSG00000053371
0
0
ENSG00000053371
missense_variant
ENSG00000053371
30
ENSG00000053371
39
30
ENSG00000053371
missense_variant
NA
NA
1
19,326,380
G
A
false
missense_variant
107
rs41264079
0.000148
0.11222
85.164
missense_variant
missense_variant
ENSG00000040487
0
ENSG00000040487
0
0
ENSG00000040487
missense_variant
ENSG00000040487
1,625
ENSG00000040487
13,650
1,625
ENSG00000040487
missense_variant
NA
NA
1
19,346,134
A
G
false
non_coding_transcript_exon_variant
117
rs78660692
0.00089
0.049279
192.64
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000077549
881
ENSG00000077549
0
0
ENSG00000077549
non_coding_transcript_exon_variant
ENSG00000040487
21,379
ENSG00000077549
227
227
ENSG00000077549
non_coding_transcript_exon_variant
NA
NA
1
19,385,255
G
A
false
tss_proximal
142
rs10917438
0.000301
0.2803
220.86
intron_variant
dELS
ENSG00000077549
249
ENSG00000077549
249
249
ENSG00000077549
tss_proximal
ENSG00000077549
308
ENSG00000077549
541
308
ENSG00000077549
tss_proximal
tss_prox:b1
tss_prox:b1
1
19,618,695
A
G
false
distal
36
rs1770489
0.000075
0.20771
120.6
intron_variant
dELS
ENSG00000173436
3,404
ENSG00000173436
1,358
1,358
ENSG00000173436
dELS
ENSG00000173436
21,715
ENSG00000226396
10,580
10,580
ENSG00000226396
distal
NA
NA
1
19,700,744
C
T
false
tss_proximal
185
rs79496233
0.000032
0.009822
49.213
intron_variant
CA_flank
ENSG00000162542
23
ENSG00000162542
23
23
ENSG00000162542
tss_proximal
ENSG00000158748
35,868
ENSG00000162542
465
465
ENSG00000162542
tss_proximal
tss_prox:b2
tss_prox:b0
1
19,725,880
C
T
false
distal
26
rs3929668
0.00004
0.36736
28.684
intron_variant
dELS
ENSG00000162542
11,491
ENSG00000162542
11,491
11,491
ENSG00000162542
dELS
ENSG00000158748
61,004
ENSG00000162542
12,538
12,538
ENSG00000162542
distal
NA
NA
1
19,811,943
C
A
false
distal
56
rs7513369
0.000749
0.21858
24.359
intergenic_variant
dELS
ENSG00000178828
2,085
ENSG00000235434
2,423
2,085
ENSG00000178828
dELS
ENSG00000178828
3,339
ENSG00000235434
2,423
2,423
ENSG00000235434
distal
NA
NA
1
19,827,168
T
C
false
distal
162
rs7551717
0.0009
0.16569
35.731
intergenic_variant
intergenic_variant
ENSG00000178828
11,884
ENSG00000235434
7,665
7,665
ENSG00000235434
intergenic_variant
ENSG00000178828
11,884
ENSG00000235434
12,800
11,884
ENSG00000178828
distal
NA
NA
1
20,086,230
G
A
false
splicing
168
rs2020881
0.000092
0.038504
57.871
splice_donor_region_variant
splice_donor_region_variant
ENSG00000127472
2
ENSG00000127472
2
2
ENSG00000127472
splice_donor_region_variant
ENSG00000127472
16,035
ENSG00000127472
15,934
15,934
ENSG00000127472
splicing
NA
splicing:b0
1
20,162,900
C
G
false
3_prime_UTR_variant
132
rs10916712
0.000065
0.22286
36.44
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000187980
0
ENSG00000187980
191
0
ENSG00000187980
3_prime_UTR_variant
ENSG00000187980
12,293
ENSG00000227066
5,207
5,207
ENSG00000227066
3_prime_UTR_variant
NA
NA
1
20,243,430
A
C
false
non_coding_transcript_exon_variant
116
rs2027880
0.000101
0.081614
43.764
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000162543
47,379
ENSG00000228105
0
0
ENSG00000228105
non_coding_transcript_exon_variant
ENSG00000158816
47,444
ENSG00000228105
309
309
ENSG00000228105
non_coding_transcript_exon_variant
NA
NA
1
20,312,877
G
A
false
missense_variant
77
rs143764617
0.000221
0.002052
7.6879
missense_variant
missense_variant
ENSG00000158816
0
ENSG00000158816
0
0
ENSG00000158816
missense_variant
ENSG00000158816
9,795
ENSG00000226664
10,309
9,795
ENSG00000158816
missense_variant
NA
NA
1
20,571,200
G
A
false
distal
156
rs10737450
0.000335
0.32536
125.06
intergenic_variant
intergenic_variant
ENSG00000183114
16,179
ENSG00000158825
17,885
16,179
ENSG00000183114
intergenic_variant
ENSG00000158825
17,896
ENSG00000158825
17,885
17,885
ENSG00000158825
distal
NA
NA
1
20,571,249
G
A
false
distal
156
rs10799642
0.000366
0.32541
125.05
intergenic_variant
intergenic_variant
ENSG00000183114
16,228
ENSG00000158825
17,836
16,228
ENSG00000183114
intergenic_variant
ENSG00000158825
17,847
ENSG00000158825
17,836
17,836
ENSG00000158825
distal
NA
NA
1
20,589,208
A
C
true
missense_variant
74
rs2072671
0.96792
MCH,MCV
0.34563
93.717
missense_variant
missense_variant
ENSG00000158825
0
ENSG00000158825
0
0
ENSG00000158825
missense_variant
ENSG00000158825
110
ENSG00000158825
121
110
ENSG00000158825
missense_variant
NA
NA
1
20,655,658
G
A
false
splicing
188
rs3738140
0.001408
0.20658
150.05
intron_variant
TF_flank
ENSG00000244038
17
ENSG00000244038
2,573
17
ENSG00000244038
exon_proximal
ENSG00000244038
5,710
ENSG00000244038
2,573
2,573
ENSG00000244038
splicing
NA
splicing:b1
1
20,656,967
T
C
false
distal
155
rs10916844
0.000053
0.062321
54.021
intron_variant
TF
ENSG00000244038
779
ENSG00000244038
3,431
779
ENSG00000244038
TF
ENSG00000244038
4,401
ENSG00000244038
3,882
3,882
ENSG00000244038
distal
NA
NA
1
20,703,203
T
C
false
distal
155
rs111926833
0.000216
0.057132
58.813
intron_variant
TF
ENSG00000117245
1,243
ENSG00000117245
4,763
1,243
ENSG00000117245
TF
ENSG00000117245
14,287
ENSG00000117245
4,763
4,763
ENSG00000117245
distal
NA
NA
1
20,722,817
G
A
false
missense_variant
76
rs570258515
0.000076
0.000717
4.3041
missense_variant
missense_variant
ENSG00000189410
0
ENSG00000189410
0
0
ENSG00000189410
missense_variant
ENSG00000117245
4,799
ENSG00000189410
10,019
4,799
ENSG00000117245
missense_variant
NA
NA
1
21,064,821
C
T
false
non_coding_transcript_exon_variant
118
rs6658526
0.003277
0.39569
480.32
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000075151
13,826
ENSG00000075151
0
0
ENSG00000075151
non_coding_transcript_exon_variant
ENSG00000075151
13,826
ENSG00000236073
8,931
8,931
ENSG00000236073
non_coding_transcript_exon_variant
NA
NA
1
21,208,351
C
A
false
distal
130
rs59950774
0.004371
0.39506
474.81
intergenic_variant
CA
ENSG00000117298
8,895
ENSG00000117298
11,462
8,895
ENSG00000117298
CA
ENSG00000075151
31,065
ENSG00000117298
13,729
13,729
ENSG00000117298
distal
NA
NA
1
21,247,362
G
A
false
missense_variant
89
rs1076669
0.000234
0.087339
160.34
missense_variant
missense_variant
ENSG00000117298
0
ENSG00000117298
0
0
ENSG00000117298
missense_variant
ENSG00000117298
32,186
ENSG00000117298
9,011
9,011
ENSG00000117298
missense_variant
NA
NA
1
21,439,960
A
C
false
tss_proximal
143
rs1976403
0.000413
0.40782
116.39
upstream_gene_variant
PLS
ENSG00000142794
167
ENSG00000142794
170
167
ENSG00000142794
tss_proximal
ENSG00000142794
167
ENSG00000142794
170
167
ENSG00000142794
tss_proximal
tss_prox:b1
tss_prox:b1
1
21,493,549
A
G
true
distal
130
rs12132412
1
Ca,P
0.38873
91.82
intergenic_variant
CA
ENSG00000142794
8,648
ENSG00000142794
8,543
8,543
ENSG00000142794
CA
ENSG00000162551
15,873
ENSG00000162551
15,847
15,847
ENSG00000162551
distal
NA
NA
1
21,502,720
T
C
false
distal
167
rs189414599
0.00027
0.30722
77.039
intergenic_variant
CA_flank
ENSG00000162551
6,702
ENSG00000162551
6,676
6,676
ENSG00000162551
CA_flank
ENSG00000162551
6,702
ENSG00000162551
6,676
6,676
ENSG00000162551
distal
NA
NA
1
21,563,267
G
A
true
missense_variant
75
rs149344982
1
ALP,P
0.01347
32.053
missense_variant
missense_variant
ENSG00000162551
0
ENSG00000162551
0
0
ENSG00000162551
missense_variant
ENSG00000162551
7,035
ENSG00000162551
11,210
7,035
ENSG00000162551
missense_variant
NA
NA
1
21,564,094
G
A
true
missense_variant
76
rs121918019
1
ALP,P
0.000323
2.1782
missense_variant
missense_variant
ENSG00000162551
0
ENSG00000162551
0
0
ENSG00000162551
missense_variant
ENSG00000162551
6,208
ENSG00000162551
10,383
6,208
ENSG00000162551
missense_variant
NA
NA
1
21,564,139
G
A
true
missense_variant
77
rs121918007
1
ALP
0.000668
3.1982
missense_variant
missense_variant
ENSG00000162551
0
ENSG00000162551
0
0
ENSG00000162551
missense_variant
ENSG00000162551
6,163
ENSG00000162551
10,338
6,163
ENSG00000162551
missense_variant
NA
NA
1
21,577,881
A
C
false
3_prime_UTR_variant
132
rs1772719
0.000362
0.2139
57.253
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000162551
0
ENSG00000162551
0
0
ENSG00000162551
3_prime_UTR_variant
ENSG00000162551
7,577
ENSG00000162551
3,402
3,402
ENSG00000162551
3_prime_UTR_variant
NA
NA
1
21,595,639
T
C
true
distal
36
rs55722102
1
P
0.20313
50.995
downstream_gene_variant
dELS
ENSG00000076864
581
ENSG00000076864
581
581
ENSG00000076864
dELS
ENSG00000076864
24,401
ENSG00000233431
9,166
9,166
ENSG00000233431
distal
NA
NA
1
21,608,999
C
T
true
distal
37
rs61775976
0.987
P
0.07792
67.164
intron_variant
dELS
ENSG00000076864
62
ENSG00000076864
62
62
ENSG00000076864
dELS
ENSG00000076864
11,041
ENSG00000233431
22,526
11,041
ENSG00000076864
distal
NA
NA
1
21,763,763
C
T
false
distal
33
rs7548795
0.000095
0.2117
149.58
intron_variant
dELS
ENSG00000090686
5,979
ENSG00000231978
4,505
4,505
ENSG00000231978
dELS
ENSG00000090686
18,256
ENSG00000231978
4,505
4,505
ENSG00000231978
distal
NA
NA
1
21,765,785
C
G
false
distal
32
rs76948744
0.000196
0.094001
143.82
intron_variant
dELS
ENSG00000090686
8,001
ENSG00000231978
2,483
2,483
ENSG00000231978
dELS
ENSG00000090686
16,234
ENSG00000231978
2,483
2,483
ENSG00000231978
distal
NA
NA
1
21,765,837
G
A
false
distal
32
rs78666741
0.000196
0.094011
143.81
intron_variant
dELS
ENSG00000090686
8,053
ENSG00000231978
2,431
2,431
ENSG00000231978
dELS
ENSG00000090686
16,182
ENSG00000231978
2,431
2,431
ENSG00000231978
distal
NA
NA
1
21,766,021
A
G
false
distal
32
rs112888844
0.000196
0.094011
143.81
intron_variant
dELS
ENSG00000090686
8,237
ENSG00000231978
2,247
2,247
ENSG00000231978
dELS
ENSG00000090686
15,998
ENSG00000231978
2,247
2,247
ENSG00000231978
distal
NA
NA
1
21,783,249
G
A
false
5_prime_UTR_variant
128
rs143733919
0.000063
0.001671
5.6452
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000090686
0
ENSG00000090686
305
0
ENSG00000090686
5_prime_UTR_variant
ENSG00000090686
22
ENSG00000090686
305
22
ENSG00000090686
5_prime_UTR_variant
NA
NA
1
21,783,375
G
T
false
5_prime_UTR_variant
128
rs139579169
0.000151
0.001105
6.21
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000090686
0
ENSG00000090686
431
0
ENSG00000090686
5_prime_UTR_variant
ENSG00000090686
148
ENSG00000090686
431
148
ENSG00000090686
5_prime_UTR_variant
NA
NA
1
21,833,618
C
T
false
splicing
183
rs17459139
0.000699
0.18067
80.394
splice_region_variant
splice_region_variant
ENSG00000142798
3
ENSG00000142798
3
3
ENSG00000142798
splice_region_variant
ENSG00000142798
40
ENSG00000142798
2,904
40
ENSG00000142798
splicing
NA
splicing:b0
1
21,844,159
C
G
false
missense_variant
98
rs139838884
0.000063
0.000036
5.7954
missense_variant
missense_variant
ENSG00000142798
0
ENSG00000142798
2,036
0
ENSG00000142798
missense_variant
ENSG00000142798
5,152
ENSG00000142798
3,798
3,798
ENSG00000142798
missense_variant
NA
NA
1
21,844,188
G
A
false
missense_variant
98
rs139855779
0.000033
0.000037
4.2557
missense_variant
missense_variant
ENSG00000142798
0
ENSG00000142798
2,007
0
ENSG00000142798
missense_variant
ENSG00000142798
5,181
ENSG00000142798
3,769
3,769
ENSG00000142798
missense_variant
NA
NA
1
21,844,210
C
T
false
missense_variant
97
rs199942544
0.00012
0.000027
16.177
missense_variant
missense_variant
ENSG00000142798
0
ENSG00000142798
1,985
0
ENSG00000142798
missense_variant
ENSG00000142798
5,203
ENSG00000142798
3,747
3,747
ENSG00000142798
missense_variant
NA
NA
1
21,844,219
C
A
false
missense_variant
98
rs147114700
0.00003
0.005183
12.511
missense_variant
missense_variant
ENSG00000142798
0
ENSG00000142798
1,976
0
ENSG00000142798
missense_variant
ENSG00000142798
5,212
ENSG00000142798
3,738
3,738
ENSG00000142798
missense_variant
NA
NA
1
21,847,362
C
T
false
missense_variant
100
rs139042516
0.000061
0.000025
11.065
missense_variant
missense_variant
ENSG00000142798
0
ENSG00000142798
0
0
ENSG00000142798
missense_variant
ENSG00000142798
8,355
ENSG00000142798
595
595
ENSG00000142798
missense_variant
NA
NA
1
21,847,497
A
G
false
splicing
184
rs35917892
0.00005
0.061164
90.178
splice_region_variant
splice_region_variant
ENSG00000142798
4
ENSG00000142798
4
4
ENSG00000142798
splice_region_variant
ENSG00000142798
8,490
ENSG00000142798
460
460
ENSG00000142798
splicing
NA
splicing:b0
1
21,859,173
C
T
false
distal
18
rs138311108
0.00011
0.010614
48.6
intron_variant
dELS_flank
ENSG00000142798
392
ENSG00000142798
4,516
392
ENSG00000142798
dELS_flank
ENSG00000142798
13,203
ENSG00000142798
4,516
4,516
ENSG00000142798
distal
NA
NA
1
21,859,369
C
T
false
distal
18
rs115902391
0.000053
0.011386
16.119
intron_variant
dELS_flank
ENSG00000142798
196
ENSG00000142798
4,712
196
ENSG00000142798
dELS_flank
ENSG00000142798
13,007
ENSG00000142798
4,712
4,712
ENSG00000142798
distal
NA
NA
1
21,873,980
C
T
false
missense_variant
81
rs28546127
0.000106
0.031295
71.552
missense_variant
missense_variant
ENSG00000142798
0
ENSG00000142798
0
0
ENSG00000142798
missense_variant
ENSG00000142798
1,602
ENSG00000142798
725
725
ENSG00000142798
missense_variant
NA
NA
1
21,966,024
G
A
false
distal
25
rs10917078
0.000222
0.2339
271.85
intergenic_variant
dELS_flank
ENSG00000219073
10,997
ENSG00000283234
9,152
9,152
ENSG00000283234
dELS_flank
ENSG00000219073
10,997
ENSG00000283234
9,152
9,152
ENSG00000283234
distal
NA
NA
1
21,966,782
C
T
false
distal
27
rs7533101
0.000208
0.23382
271.86
intergenic_variant
dELS
ENSG00000219073
10,239
ENSG00000283234
9,910
9,910
ENSG00000283234
dELS
ENSG00000219073
10,239
ENSG00000283234
9,910
9,910
ENSG00000283234
distal
NA
NA
1
21,966,808
G
T
false
distal
27
rs7554864
0.000206
0.23377
271.85
intergenic_variant
dELS
ENSG00000219073
10,213
ENSG00000283234
9,936
9,936
ENSG00000283234
dELS
ENSG00000219073
10,213
ENSG00000283234
9,936
9,936
ENSG00000283234
distal
NA
NA
1
21,968,605
G
A
false
distal
25
rs11578958
0.000256
0.23393
272.21
intergenic_variant
dELS_flank
ENSG00000219073
8,416
ENSG00000219073
9,287
8,416
ENSG00000219073
dELS_flank
ENSG00000219073
8,416
ENSG00000219073
9,287
8,416
ENSG00000219073
distal
NA
NA
1
21,975,589
T
C
false
distal
151
rs11591033
0.000102
0.094539
134.53
intergenic_variant
pELS
ENSG00000219073
1,432
ENSG00000219073
2,303
1,432
ENSG00000219073
pELS
ENSG00000219073
1,432
ENSG00000219073
2,303
1,432
ENSG00000219073
distal
NA
NA
1
22,024,341
T
C
false
non_coding_transcript_exon_variant
121
rs2473307
0.001523
0.47519
140.9
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000289694
800
ENSG00000228397
0
0
ENSG00000228397
non_coding_transcript_exon_variant
ENSG00000289694
800
ENSG00000218510
216
216
ENSG00000218510
non_coding_transcript_exon_variant
NA
NA
1
22,035,701
T
C
false
distal
154
rs2473276
0.000555
0.39363
183.3
intron_variant
TF
ENSG00000289694
10,061
ENSG00000285752
3,833
3,833
ENSG00000285752
TF
ENSG00000289694
10,189
ENSG00000285794
5,173
5,173
ENSG00000285794
distal
NA
NA
1
22,035,704
A
G
false
distal
154
rs2501284
0.000555
0.39363
183.3
intron_variant
TF
ENSG00000289694
10,064
ENSG00000285752
3,836
3,836
ENSG00000285752
TF
ENSG00000289694
10,192
ENSG00000285794
5,176
5,176
ENSG00000285794
distal
NA
NA
1
22,053,854
T
G
false
5_prime_UTR_variant
127
rs142535017
0.000268
0.010976
31.524
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000070831
0
ENSG00000285752
926
0
ENSG00000070831
5_prime_UTR_variant
ENSG00000070831
367
ENSG00000285752
926
367
ENSG00000070831
5_prime_UTR_variant
NA
NA
1
22,078,709
T
A
false
missense_variant
102
rs75284716
0.000128
0.013312
34.548
missense_variant
missense_variant
ENSG00000070831
37
ENSG00000070831
0
0
ENSG00000070831
missense_variant
ENSG00000070831
2,374
ENSG00000070831
238
238
ENSG00000070831
missense_variant
NA
NA
1
22,135,638
T
G
true
distal
4
rs10799737
0.96695
Height
0.34029
161.1
intron_variant
dELS_flank
ENSG00000162552
5,786
ENSG00000285873
7,211
5,786
ENSG00000162552
dELS_flank
ENSG00000162552
5,786
ENSG00000285873
7,211
5,786
ENSG00000162552
distal
NA
NA
1
22,205,049
G
A
true
distal
5
rs79364962
1
eBMD
0.074905
64.635
intergenic_variant
dELS_flank
ENSG00000162552
61,079
ENSG00000285873
47,647
47,647
ENSG00000285873
dELS_flank
ENSG00000162552
61,079
ENSG00000266564
61,189
61,079
ENSG00000162552
distal
NA
NA
1
22,205,697
G
T
false
distal
5
rs2807349
0.000163
0.066603
128.25
intergenic_variant
dELS_flank
ENSG00000162552
61,727
ENSG00000285873
48,295
48,295
ENSG00000285873
dELS_flank
ENSG00000162552
61,727
ENSG00000266564
60,541
60,541
ENSG00000266564
distal
NA
NA
1
22,543,411
C
A
false
distal
47
rs714094
0.000052
0.011194
26.56
intergenic_variant
dELS
ENSG00000184677
12,253
ENSG00000237200
23,702
12,253
ENSG00000184677
dELS
ENSG00000070886
20,077
ENSG00000237200
25,936
20,077
ENSG00000070886
distal
NA
NA
1
22,543,547
C
A
false
distal
47
rs145223856
0.00033
0.004021
7.5373
intergenic_variant
dELS
ENSG00000184677
12,389
ENSG00000237200
23,838
12,389
ENSG00000184677
dELS
ENSG00000070886
19,941
ENSG00000237200
26,072
19,941
ENSG00000070886
distal
NA
NA
1
22,589,260
T
C
false
missense_variant
115
rs606002
0.000455
0.35255
66.203
missense_variant
missense_variant
ENSG00000070886
0
ENSG00000276835
43,997
0
ENSG00000070886
missense_variant
ENSG00000070886
25,695
ENSG00000276835
44,105
25,695
ENSG00000070886
missense_variant
NA
NA
1
22,794,445
C
T
false
distal
9
rs1866794
0.000046
0.06077
30.792
intron_variant
dELS_flank
ENSG00000133216
9,368
ENSG00000133216
5,794
5,794
ENSG00000133216
dELS_flank
ENSG00000133216
19,266
ENSG00000133216
5,794
5,794
ENSG00000133216
distal
NA
NA