rs2062691

Homo sapiens
C>G
None
Check p-value
SNV (Single Nucleotide Variation)
C==0418 (12486/29828,GnomAD)
G=0494 (14394/29118,TOPMED)
G=0499 (2497/5008,1000G)
C==0245 (943/3854,ALSPAC)
C==0257 (953/3708,TWINSUK)
chr5:18725285 (GRCh38.p7) (5p14.3)
CD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
18 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.18725285C>G
GRCh37.p13 chr 5NC_000005.9:g.18725394C>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.828G=0.172
1000GenomesAmericanSub694C=0.400G=0.600
1000GenomesEast AsianSub1008C=0.420G=0.580
1000GenomesEuropeSub1006C=0.272G=0.728
1000GenomesGlobalStudy-wide5008C=0.501G=0.499
1000GenomesSouth AsianSub978C=0.450G=0.550
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.245G=0.755
The Genome Aggregation DatabaseAfricanSub8694C=0.757G=0.243
The Genome Aggregation DatabaseAmericanSub832C=0.390G=0.610
The Genome Aggregation DatabaseEast AsianSub1590C=0.374G=0.626
The Genome Aggregation DatabaseEuropeSub18410C=0.265G=0.734
The Genome Aggregation DatabaseGlobalStudy-wide29828C=0.418G=0.581
The Genome Aggregation DatabaseOtherSub302C=0.330G=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.505G=0.494
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.257G=0.743
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
rs20626910.000404cocaine dependence23958962

eQTL of rs2062691 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 rs2062691 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 )
chr51873681518736892E07111421
chr51873701418737101E07111620
chr51873717318737275E07111779
chr51873731118737371E07111917
chr51873314518733274E0747751
chr51873701418737101E07411620
chr51873717318737275E07411779
chr51873731118737371E07411917
chr51873745018737546E07412056


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr51869830618698907E067-26487
chr51874581518746761E06720421
chr51869830618698907E068-26487
chr51874570618745805E06820312
chr51874581518746761E06820421
chr51869830618698907E069-26487
chr51874581518746761E06920421
chr51869830618698907E071-26487
chr51874570618745805E07120312
chr51874581518746761E07120421
chr51869830618698907E072-26487
chr51874570618745805E07220312
chr51874581518746761E07220421
chr51869830618698907E073-26487
chr51874581518746761E07320421
chr51869830618698907E074-26487
chr51874570618745805E07420312
chr51874581518746761E07420421