rs2997460

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0341 (10190/29852,GnomAD)
T=0381 (11096/29118,TOPMED)
T=0283 (1418/5008,1000G)
T=0285 (1097/3854,ALSPAC)
T=0285 (1058/3708,TWINSUK)
chr1:45229124 (GRCh38.p7) (1p34.1)
CD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.45229124C>T
GRCh37.p13 chr 1NC_000001.10:g.45694796C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.439T=0.561
1000GenomesAmericanSub694C=0.790T=0.210
1000GenomesEast AsianSub1008C=0.865T=0.135
1000GenomesEuropeSub1006C=0.735T=0.265
1000GenomesGlobalStudy-wide5008C=0.717T=0.283
1000GenomesSouth AsianSub978C=0.870T=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.715T=0.285
The Genome Aggregation DatabaseAfricanSub8678C=0.469T=0.531
The Genome Aggregation DatabaseAmericanSub832C=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1610C=0.878T=0.122
The Genome Aggregation DatabaseEuropeSub18430C=0.721T=0.278
The Genome Aggregation DatabaseGlobalStudy-wide29852C=0.658T=0.341
The Genome Aggregation DatabaseOtherSub302C=0.780T=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.618T=0.381
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.715T=0.285
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
rs29974600.00000418cocaine dependence23958962
rs29974600.0000766cocaine dependence,EA23958962

eQTL of rs2997460 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 rs2997460 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 )
chr14566923045669309E067-25487
chr14574088545741022E06746089
chr14565696245657079E068-37717
chr14566923045669309E068-25487
chr14566945945669552E068-25244
chr14574088545741022E06846089
chr14567340245673444E070-21352
chr14566923045669309E071-25487
chr14566945945669552E071-25244
chr14573099045731184E07136194
chr14573169445731816E07136898
chr14573185345732394E07137057
chr14566945945669552E072-25244
chr14566923045669309E073-25487
chr14574088545741022E07446089
chr14566923045669309E081-25487
chr14566945945669552E081-25244








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr14567028645670378E067-24418
chr14567053945670634E067-24162
chr14567069545672793E067-22003
chr14567028645670378E068-24418
chr14567053945670634E068-24162
chr14567069545672793E068-22003
chr14567028645670378E069-24418
chr14567053945670634E069-24162
chr14567069545672793E069-22003
chr14567028645670378E070-24418
chr14567053945670634E070-24162
chr14567069545672793E070-22003
chr14567028645670378E071-24418
chr14567053945670634E071-24162
chr14567069545672793E071-22003
chr14567028645670378E072-24418
chr14567053945670634E072-24162
chr14567069545672793E072-22003
chr14567028645670378E073-24418
chr14567053945670634E073-24162
chr14567069545672793E073-22003
chr14567053945670634E074-24162
chr14567069545672793E074-22003
chr14567028645670378E081-24418
chr14567053945670634E081-24162
chr14567069545672793E081-22003
chr14567028645670378E082-24418
chr14567053945670634E082-24162
chr14567069545672793E082-22003