rs12672125

Homo sapiens
T>C
LOC105375114 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0443 (12901/29118,TOPMED)
C=0435 (11868/27280,GnomAD)
C=0455 (2281/5008,1000G)
C=0467 (1800/3854,ALSPAC)
C=0462 (1713/3708,TWINSUK)
chr7:116054 (GRCh38.p7) (7p22.3)
CD
GWASdb2
1   publication(s)
See rs on genome
256 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.116054T>C
GRCh37.p13 chr 7NC_000007.13:g.116054T>C
GRCh38.p7 chr 7 alt locus HSCHR7_2_CTG1NT_187653.1:g.108375T>C
GRCh38.p7 chr 7 alt locus HSCHR7_1_CTG1NT_187558.1:g.71904C>T

Gene: LOC105375114, uncharacterized LOC105375114(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105375114 transcript variant X3XR_926959.2:n.N/AIntron Variant
LOC105375114 transcript variant X1XR_001745039.1:n.N/AGenic Downstream Transcript Variant
LOC105375114 transcript variant X2XR_001745040.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.563C=0.437
1000GenomesAmericanSub694T=0.640C=0.360
1000GenomesEast AsianSub1008T=0.487C=0.513
1000GenomesEuropeSub1006T=0.560C=0.440
1000GenomesGlobalStudy-wide5008T=0.545C=0.455
1000GenomesSouth AsianSub978T=0.500C=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.533C=0.467
The Genome Aggregation DatabaseAfricanSub7330T=0.580C=0.420
The Genome Aggregation DatabaseAmericanSub788T=0.650C=0.350
The Genome Aggregation DatabaseEast AsianSub1538T=0.477C=0.523
The Genome Aggregation DatabaseEuropeSub17350T=0.561C=0.438
The Genome Aggregation DatabaseGlobalStudy-wide27280T=0.565C=0.435
The Genome Aggregation DatabaseOtherSub274T=0.640C=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.556C=0.443
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.538C=0.462
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs126721250.00000985cocaine dependence23958962
rs126721250.000831cocaine dependence,AA23958962

eQTL of rs12672125 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs12672125 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr78661686716E067-29338
chr78676686938E067-29116
chr78707187521E067-28533
chr78765087731E067-28323
chr78777887818E067-28236
chr7129546130463E06713492
chr7130499130570E06714445
chr7130949130999E06714895
chr7131010131097E06714956
chr7131129131199E06715075
chr7131274131374E06715220
chr7131378132209E06715324
chr7132245132312E06716191
chr7132501132551E06716447
chr7153575153688E06737521
chr7153812154175E06737758
chr7154516154819E06738462
chr7155307155932E06739253
chr78661686716E068-29338
chr78676686938E068-29116
chr78707187521E068-28533
chr79314393549E068-22505
chr7116685116789E068631
chr7118480118938E0682426
chr7119015119223E0682961
chr7119356120217E0683302
chr7129404129500E06813350
chr7129546130463E06813492
chr7130499130570E06814445
chr7130949130999E06814895
chr7131010131097E06814956
chr7131129131199E06815075
chr7131274131374E06815220
chr7131378132209E06815324
chr7132245132312E06816191
chr7132501132551E06816447
chr7153575153688E06837521
chr7153812154175E06837758
chr7154516154819E06838462
chr7155307155932E06839253
chr78537885484E069-30570
chr78549385634E069-30420
chr78564085878E069-30176
chr78598686036E069-30018
chr78631786480E069-29574
chr78654886600E069-29454
chr78661686716E069-29338
chr78676686938E069-29116
chr78707187521E069-28533
chr7129404129500E06913350
chr7130499130570E06914445
chr7130949130999E06914895
chr7131010131097E06914956
chr7131129131199E06915075
chr7131274131374E06915220
chr7131378132209E06915324
chr7132245132312E06916191
chr7132501132551E06916447
chr7153340153450E06937286
chr7153504153554E06937450
chr7153575153688E06937521
chr7153812154175E06937758
chr7154516154819E06938462
chr7155307155932E06939253
chr7156020156143E06939966
chr7156239156304E06940185
chr78290282952E070-33102
chr78676686938E070-29116
chr78707187521E070-28533
chr79146091541E070-24513
chr79155891670E070-24384
chr79175091956E070-24098
chr79198192757E070-23297
chr79281593083E070-22971
chr7131378132209E07015324
chr7132245132312E07016191
chr7139211139542E07023157
chr77112071275E071-44779
chr77131371374E071-44680
chr77145871526E071-44528
chr78537885484E071-30570
chr78549385634E071-30420
chr78564085878E071-30176
chr78598686036E071-30018
chr78631786480E071-29574
chr78654886600E071-29454
chr78661686716E071-29338
chr78676686938E071-29116
chr78707187521E071-28533
chr7116435116683E071381
chr7116685116789E071631
chr7116837116907E071783
chr7118254118325E0712200
chr7118480118938E0712426
chr7130499130570E07114445
chr7130949130999E07114895
chr7131010131097E07114956
chr7131129131199E07115075
chr7131274131374E07115220
chr7131378132209E07115324
chr7132245132312E07116191
chr7150683151105E07134629
chr7152875153305E07136821
chr7153340153450E07137286
chr7153504153554E07137450
chr7153575153688E07137521
chr7153812154175E07137758
chr7154516154819E07138462
chr7155307155932E07139253
chr7156020156143E07139966
chr7162159162862E07146105
chr7162883163215E07146829
chr78204682121E072-33933
chr78215382215E072-33839
chr78631786480E072-29574
chr78654886600E072-29454
chr78661686716E072-29338
chr78676686938E072-29116
chr78707187521E072-28533
chr78765087731E072-28323
chr78777887818E072-28236
chr78784688018E072-28036
chr7130499130570E07214445
chr7130949130999E07214895
chr7131010131097E07214956
chr7131129131199E07215075
chr7131274131374E07215220
chr7131378132209E07215324
chr7132245132312E07216191
chr7132501132551E07216447
chr7153340153450E07237286
chr7153504153554E07237450
chr7153575153688E07237521
chr7153812154175E07237758
chr7154516154819E07238462
chr7155307155932E07239253
chr7156020156143E07239966
chr7162159162862E07246105
chr7162883163215E07246829
chr78090980992E073-35062
chr78129481665E073-34389
chr78204682121E073-33933
chr78215382215E073-33839
chr78224782442E073-33612
chr78661686716E073-29338
chr78676686938E073-29116
chr7129404129500E07313350
chr7130499130570E07314445
chr7130949130999E07314895
chr7131010131097E07314956
chr7131129131199E07315075
chr7131274131374E07315220
chr7131378132209E07315324
chr7132245132312E07316191
chr7132501132551E07316447
chr7153575153688E07337521
chr7153812154175E07337758
chr7154516154819E07338462
chr7155307155932E07339253
chr7162883163215E07346829
chr7163579163742E07347525
chr7163748163842E07347694
chr78528085352E074-30702
chr78631786480E074-29574
chr78654886600E074-29454
chr78661686716E074-29338
chr78676686938E074-29116
chr78707187521E074-28533
chr78765087731E074-28323
chr78777887818E074-28236
chr78784688018E074-28036
chr7130499130570E07414445
chr7130949130999E07414895
chr7131010131097E07414956
chr7131129131199E07415075
chr7131274131374E07415220
chr7131378132209E07415324
chr7132245132312E07416191
chr7153575153688E07437521
chr7153812154175E07437758
chr7154516154819E07438462
chr7155307155932E07439253
chr7156020156143E07439966
chr78042780491E081-35563
chr78053780701E081-35353
chr78090980992E081-35062
chr78129481665E081-34389
chr78204682121E081-33933
chr78215382215E081-33839
chr78224782442E081-33612
chr78248882849E081-33205
chr78503985089E081-30965
chr78509785177E081-30877
chr78528085352E081-30702
chr78537885484E081-30570
chr78549385634E081-30420
chr78631786480E081-29574
chr78654886600E081-29454
chr78661686716E081-29338
chr78676686938E081-29116
chr79131891398E081-24656
chr79146091541E081-24513
chr79155891670E081-24384
chr79175091956E081-24098
chr79198192757E081-23297
chr79281593083E081-22971
chr79314393549E081-22505
chr7123886123943E0817832
chr7129404129500E08113350
chr7129546130463E08113492
chr7130499130570E08114445
chr7130949130999E08114895
chr7131010131097E08114956
chr7131129131199E08115075
chr7131274131374E08115220
chr7131378132209E08115324
chr7132245132312E08116191
chr7132501132551E08116447
chr7139211139542E08123157
chr7139553139853E08123499
chr7142066142157E08126012
chr7142186142794E08126132
chr7142856142928E08126802
chr7142958143038E08126904
chr7143111143290E08127057
chr7161815162008E08145761
chr7162159162862E08146105
chr7162883163215E08146829
chr78204682121E082-33933
chr78215382215E082-33839
chr78224782442E082-33612
chr78248882849E082-33205
chr78290282952E082-33102
chr78297583109E082-32945
chr78319183291E082-32763
chr79111091317E082-24737
chr79131891398E082-24656
chr79146091541E082-24513
chr79155891670E082-24384
chr79175091956E082-24098
chr79198192757E082-23297
chr79281593083E082-22971
chr79314393549E082-22505
chr79422494268E082-21786
chr7129404129500E08213350
chr7129546130463E08213492
chr7130499130570E08214445
chr7131378132209E08215324
chr7132245132312E08216191
chr7139211139542E08223157
chr7142066142157E08226012
chr7142186142794E08226132
chr7162159162862E08246105
chr7162883163215E08246829
chr7163317163483E08247263
chr7163579163742E08247525










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7148446148853E06732392
chr7148860150602E06732806
chr7148446148853E06832392
chr7148860150602E06832806
chr7148446148853E06932392
chr7148860150602E06932806
chr7148446148853E07032392
chr7148860150602E07032806
chr7148446148853E07132392
chr7148860150602E07132806
chr7148446148853E07232392
chr7148860150602E07232806
chr7148446148853E07332392
chr7148860150602E07332806
chr7148446148853E07432392
chr7148860150602E07432806
chr7148446148853E08132392
chr7148446148853E08232392
chr7148860150602E08232806