rs729699

Homo sapiens
C>A / C>T
CPE : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0245 (7308/29806,GnomAD)
A=0234 (1170/5008,1000G)
chr4:165414029 (GRCh38.p7) (4q32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.165414029C>A
GRCh38.p7 chr 4NC_000004.12:g.165414029C>T
GRCh37.p13 chr 4NC_000004.11:g.166335181C>A
GRCh37.p13 chr 4NC_000004.11:g.166335181C>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
1000GenomesAfricanSub1322C=0.757A=0.104
1000GenomesAmericanSub694C=0.760A=0.21,
1000GenomesEast AsianSub1008C=0.693A=0.298
1000GenomesEuropeSub1006C=0.679A=0.303
1000GenomesGlobalStudy-wide5008C=0.716A=0.234
1000GenomesSouth AsianSub978C=0.690A=0.29,
The Genome Aggregation DatabaseAfricanSub8694C=0.753T=0.115
The Genome Aggregation DatabaseAmericanSub838C=0.770T=0.02,
The Genome Aggregation DatabaseEast AsianSub1610C=0.686T=0.004
The Genome Aggregation DatabaseEuropeSub18364C=0.685T=0.021
The Genome Aggregation DatabaseGlobalStudy-wide29806C=0.706T=0.048
The Genome Aggregation DatabaseOtherSub300C=0.600T=0.05,
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs7296996.39E-05alcohol dependence21703634

eQTL of rs729699 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 rs729699 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.