rs17686882

Homo sapiens
G>A / G>T
CPE : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0225 (6746/29930,GnomAD)
A=0202 (5885/29118,TOPMED)
A=0225 (1129/5008,1000G)
A=0279 (1077/3854,ALSPAC)
A=0287 (1063/3708,TWINSUK)
chr4:165401246 (GRCh38.p7) (4q32.3)
CD
GWASdb2
1   publication(s)
See rs on genome
68 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.165401246G>A
GRCh38.p7 chr 4NC_000004.12:g.165401246G>T
GRCh37.p13 chr 4NC_000004.11:g.166322398G>A
GRCh37.p13 chr 4NC_000004.11:g.166322398G>T

Gene: CPE, carboxypeptidase E(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CPE transcriptNM_001873.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.916A=0.084
1000GenomesAmericanSub694G=0.800A=0.200
1000GenomesEast AsianSub1008G=0.701A=0.299
1000GenomesEuropeSub1006G=0.715A=0.285
1000GenomesGlobalStudy-wide5008G=0.775A=0.225
1000GenomesSouth AsianSub978G=0.710A=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.721A=0.279
The Genome Aggregation DatabaseAfricanSub8718G=0.889T=0.000
The Genome Aggregation DatabaseAmericanSub838G=0.820T=0.00,
The Genome Aggregation DatabaseEast AsianSub1606G=0.700T=0.000
The Genome Aggregation DatabaseEuropeSub18466G=0.726T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29930G=0.774T=0.000
The Genome Aggregation DatabaseOtherSub302G=0.680T=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.797A=0.202
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.713A=0.287
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
rs176868820.000231cocaine dependence23958962
rs176868820.000289cocaine dependence,AA23958962

eQTL of rs17686882 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 rs17686882 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 )
chr460344666034528E067-47296
chr460346326034878E067-46946
chr460518086051915E067-29909
chr460586976058889E067-22935
chr461301366130467E06748312
chr460325026032585E068-49239
chr460336966033762E068-48062
chr460344666034528E068-47296
chr460346326034878E068-46946
chr460518086051915E068-29909
chr460586976058889E068-22935
chr460740986074421E068-7403
chr460876726087750E0685848
chr460887626088812E0686938
chr460895046089685E0687680
chr460927856092868E06810961
chr461185726118707E06836748
chr461187346119178E06836910
chr460336966033762E069-48062
chr460344666034528E069-47296
chr460346326034878E069-46946
chr460461406046263E069-35561
chr460518086051915E069-29909
chr460740986074421E069-7403
chr461301366130467E06948312
chr460895046089685E0707680
chr461301366130467E07048312
chr460344666034528E071-47296
chr460346326034878E071-46946
chr460518086051915E071-29909
chr460586976058889E071-22935
chr460344666034528E072-47296
chr460346326034878E072-46946
chr460518086051915E072-29909
chr460586976058889E072-22935
chr460816396081700E072-124
chr460876726087750E0725848
chr460895046089685E0727680
chr460957986096387E07213974
chr460972576097403E07215433
chr461244636124558E07242639
chr461301366130467E07248312
chr460344666034528E073-47296
chr460346326034878E073-46946
chr460518086051915E073-29909
chr460586976058889E073-22935
chr460816396081700E073-124
chr460957986096387E07313974
chr461244636124558E07342639
chr461301366130467E07348312
chr460344666034528E074-47296
chr460346326034878E074-46946
chr460518086051915E074-29909
chr460586976058889E074-22935
chr460740986074421E074-7403
chr460887626088812E0746938
chr460895046089685E0747680
chr460816396081700E081-124
chr460851716085261E0813347
chr460872666087366E0815442
chr460876726087750E0815848
chr460887626088812E0816938
chr460895046089685E0817680
chr460957986096387E08113974
chr461070036107387E08125179
chr461244636124558E08142639
chr461301366130467E08148312
chr460972576097403E08215433