rs17686882

Organism: Homo sapiens

Alleles: G>A / G>T

Gene : Feature

CPE : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

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)

Position: chr4:165401246 (GRCh38.p7) (4q32.3)

Phenotype: CD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 68 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

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

Gene: CPE, carboxypeptidase E(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CPE transcript	NM_001873.3:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.916	A=0.084
1000Genomes	American	Sub	694	G=0.800	A=0.200
1000Genomes	East Asian	Sub	1008	G=0.701	A=0.299
1000Genomes	Europe	Sub	1006	G=0.715	A=0.285
1000Genomes	Global	Study-wide	5008	G=0.775	A=0.225
1000Genomes	South Asian	Sub	978	G=0.710	A=0.290
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.721	A=0.279
The Genome Aggregation Database	African	Sub	8718	G=0.889	T=0.000
The Genome Aggregation Database	American	Sub	838	G=0.820	T=0.00,
The Genome Aggregation Database	East Asian	Sub	1606	G=0.700	T=0.000
The Genome Aggregation Database	Europe	Sub	18466	G=0.726	T=0.000
The Genome Aggregation Database	Global	Study-wide	29930	G=0.774	T=0.000
The Genome Aggregation Database	Other	Sub	302	G=0.680	T=0.00,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.797	A=0.202
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.713	A=0.287

PMID	Title	Author	Journal
23958962	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Gelernter J	Mol Psychiatry

SNP ID	p-value	Traits	Study
rs17686882	0.000231	cocaine dependence	23958962
rs17686882	0.000289	cocaine dependence,AA	23958962

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

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 )
chr4	6034466	6034528	E067	-47296
chr4	6034632	6034878	E067	-46946
chr4	6051808	6051915	E067	-29909
chr4	6058697	6058889	E067	-22935
chr4	6130136	6130467	E067	48312
chr4	6032502	6032585	E068	-49239
chr4	6033696	6033762	E068	-48062
chr4	6034466	6034528	E068	-47296
chr4	6034632	6034878	E068	-46946
chr4	6051808	6051915	E068	-29909
chr4	6058697	6058889	E068	-22935
chr4	6074098	6074421	E068	-7403
chr4	6087672	6087750	E068	5848
chr4	6088762	6088812	E068	6938
chr4	6089504	6089685	E068	7680
chr4	6092785	6092868	E068	10961
chr4	6118572	6118707	E068	36748
chr4	6118734	6119178	E068	36910
chr4	6033696	6033762	E069	-48062
chr4	6034466	6034528	E069	-47296
chr4	6034632	6034878	E069	-46946
chr4	6046140	6046263	E069	-35561
chr4	6051808	6051915	E069	-29909
chr4	6074098	6074421	E069	-7403
chr4	6130136	6130467	E069	48312
chr4	6089504	6089685	E070	7680
chr4	6130136	6130467	E070	48312
chr4	6034466	6034528	E071	-47296
chr4	6034632	6034878	E071	-46946
chr4	6051808	6051915	E071	-29909
chr4	6058697	6058889	E071	-22935
chr4	6034466	6034528	E072	-47296
chr4	6034632	6034878	E072	-46946
chr4	6051808	6051915	E072	-29909
chr4	6058697	6058889	E072	-22935
chr4	6081639	6081700	E072	-124
chr4	6087672	6087750	E072	5848
chr4	6089504	6089685	E072	7680
chr4	6095798	6096387	E072	13974
chr4	6097257	6097403	E072	15433
chr4	6124463	6124558	E072	42639
chr4	6130136	6130467	E072	48312
chr4	6034466	6034528	E073	-47296
chr4	6034632	6034878	E073	-46946
chr4	6051808	6051915	E073	-29909
chr4	6058697	6058889	E073	-22935
chr4	6081639	6081700	E073	-124
chr4	6095798	6096387	E073	13974
chr4	6124463	6124558	E073	42639
chr4	6130136	6130467	E073	48312
chr4	6034466	6034528	E074	-47296
chr4	6034632	6034878	E074	-46946
chr4	6051808	6051915	E074	-29909
chr4	6058697	6058889	E074	-22935
chr4	6074098	6074421	E074	-7403
chr4	6088762	6088812	E074	6938
chr4	6089504	6089685	E074	7680
chr4	6081639	6081700	E081	-124
chr4	6085171	6085261	E081	3347
chr4	6087266	6087366	E081	5442
chr4	6087672	6087750	E081	5848
chr4	6088762	6088812	E081	6938
chr4	6089504	6089685	E081	7680
chr4	6095798	6096387	E081	13974
chr4	6107003	6107387	E081	25179
chr4	6124463	6124558	E081	42639
chr4	6130136	6130467	E081	48312
chr4	6097257	6097403	E082	15433

rs17686882

Genomic Coordinates

Gene: CPE, carboxypeptidase E(plus strand)

Population Frequency

P-Value

eQTL of rs17686882 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs17686882 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)