rs7597287

Homo sapiens
G>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0265 (7931/29860,GnomAD)
C=0234 (6828/29116,TOPMED)
C=0325 (1626/5008,1000G)
C=0289 (1114/3854,ALSPAC)
C=0276 (1022/3708,TWINSUK)
chr2:119146393 (GRCh38.p7) (2q14.2)
CD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
36 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.119146393G>C
GRCh37.p13 chr 2NC_000002.11:g.119903969G>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.902C=0.098
1000GenomesAmericanSub694G=0.800C=0.200
1000GenomesEast AsianSub1008G=0.345C=0.655
1000GenomesEuropeSub1006G=0.689C=0.311
1000GenomesGlobalStudy-wide5008G=0.675C=0.325
1000GenomesSouth AsianSub978G=0.610C=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.711C=0.289
The Genome Aggregation DatabaseAfricanSub8684G=0.862C=0.138
The Genome Aggregation DatabaseAmericanSub838G=0.760C=0.240
The Genome Aggregation DatabaseEast AsianSub1612G=0.377C=0.623
The Genome Aggregation DatabaseEuropeSub18426G=0.705C=0.294
The Genome Aggregation DatabaseGlobalStudy-wide29860G=0.734C=0.265
The Genome Aggregation DatabaseOtherSub300G=0.650C=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.765C=0.234
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.724C=0.276
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
rs75972871.98E-05cocaine dependence23958962

eQTL of rs7597287 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 rs7597287 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 )
chr2119900443119900910E067-3059
chr2119900443119900910E069-3059
chr2119875909119876048E070-27921
chr2119876648119876856E070-27113
chr2119876894119876962E070-27007
chr2119877091119877197E070-26772
chr2119881052119881172E070-22797
chr2119892743119892793E070-11176
chr2119900443119900910E070-3059
chr2119938620119938679E07034651
chr2119902369119902629E071-1340
chr2119900443119900910E074-3059
chr2119900443119900910E081-3059
chr2119938620119938679E08134651
chr2119939320119939383E08135351
chr2119939461119939758E08135492
chr2119941373119941439E08137404
chr2119877091119877197E082-26772
chr2119897447119897517E082-6452
chr2119897682119897732E082-6237
chr2119938620119938679E08234651
chr2119939320119939383E08235351
chr2119939461119939758E08235492







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2119915979119916029E06712010
chr2119916179119916577E06712210
chr2119915810119915936E06811841
chr2119915979119916029E06812010
chr2119916179119916577E06812210
chr2119914353119914622E06910384
chr2119914659119914801E06910690
chr2119914954119915097E06910985
chr2119915163119915277E06911194
chr2119915979119916029E06912010
chr2119916179119916577E06912210
chr2119914954119915097E07010985
chr2119915163119915277E07011194
chr2119915810119915936E07011841
chr2119914954119915097E07110985
chr2119915810119915936E07111841
chr2119915979119916029E07112010
chr2119916179119916577E07112210
chr2119914353119914622E07210384
chr2119914659119914801E07210690
chr2119914954119915097E07210985
chr2119915163119915277E07211194
chr2119915810119915936E07211841
chr2119915979119916029E07212010
chr2119916179119916577E07212210
chr2119914954119915097E07310985
chr2119915163119915277E07311194
chr2119915810119915936E07311841
chr2119915979119916029E07312010
chr2119916179119916577E07312210
chr2119914659119914801E08210690
chr2119914954119915097E08210985
chr2119915163119915277E08211194
chr2119915810119915936E08211841
chr2119915979119916029E08212010
chr2119916179119916577E08212210