rs1370687

Homo sapiens
C>T
CPE : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0253 (7584/29946,GnomAD)
C==0256 (7472/29118,TOPMED)
C==0257 (1288/5008,1000G)
C==0292 (1127/3854,ALSPAC)
C==0283 (1048/3708,TWINSUK)
chr4:165469203 (GRCh38.p7) (4q32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
85 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.165469203C>T
GRCh37.p13 chr 4NC_000004.11:g.166390355C>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=0.159T=0.841
1000GenomesAmericanSub694C=0.330T=0.670
1000GenomesEast AsianSub1008C=0.192T=0.808
1000GenomesEuropeSub1006C=0.292T=0.708
1000GenomesGlobalStudy-wide5008C=0.257T=0.743
1000GenomesSouth AsianSub978C=0.370T=0.630
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.292T=0.708
The Genome Aggregation DatabaseAfricanSub8704C=0.202T=0.798
The Genome Aggregation DatabaseAmericanSub838C=0.380T=0.620
The Genome Aggregation DatabaseEast AsianSub1616C=0.228T=0.772
The Genome Aggregation DatabaseEuropeSub18486C=0.271T=0.728
The Genome Aggregation DatabaseGlobalStudy-wide29946C=0.253T=0.746
The Genome Aggregation DatabaseOtherSub302C=0.390T=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.256T=0.743
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.283T=0.717
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs13706870.00092alcohol dependence20201924

eQTL of rs1370687 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 rs1370687 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 )
chr4166361272166361388E067-28967
chr4166361537166362053E067-28302
chr4166362349166362444E067-27911
chr4166384764166384821E067-5534
chr4166385572166385757E067-4598
chr4166340406166340481E068-49874
chr4166360488166360542E068-29813
chr4166360599166360821E068-29534
chr4166361272166361388E068-28967
chr4166361537166362053E068-28302
chr4166379268166379334E068-11021
chr4166379773166380065E068-10290
chr4166380380166380567E068-9788
chr4166382401166383095E068-7260
chr4166384764166384821E068-5534
chr4166385572166385757E068-4598
chr4166385882166386278E068-4077
chr4166360488166360542E069-29813
chr4166360599166360821E069-29534
chr4166361272166361388E069-28967
chr4166361537166362053E069-28302
chr4166384764166384821E069-5534
chr4166385572166385757E069-4598
chr4166433545166433595E07043190
chr4166433702166433900E07043347
chr4166360488166360542E071-29813
chr4166360599166360821E071-29534
chr4166361272166361388E071-28967
chr4166361537166362053E071-28302
chr4166362349166362444E071-27911
chr4166379268166379334E071-11021
chr4166385572166385757E071-4598
chr4166414372166414469E07124017
chr4166414516166414868E07124161
chr4166361537166362053E072-28302
chr4166362349166362444E072-27911
chr4166379268166379334E072-11021
chr4166379773166380065E072-10290
chr4166361537166362053E073-28302
chr4166362349166362444E073-27911
chr4166385572166385757E073-4598
chr4166428099166428207E07337744
chr4166360488166360542E074-29813
chr4166360599166360821E074-29534
chr4166361272166361388E074-28967
chr4166361537166362053E074-28302
chr4166362349166362444E074-27911
chr4166379268166379334E074-11021
chr4166382401166383095E074-7260
chr4166385572166385757E074-4598
chr4166385882166386278E074-4077
chr4166411040166411313E07420685
chr4166428099166428207E07437744
chr4166360488166360542E081-29813
chr4166360599166360821E081-29534
chr4166361272166361388E081-28967
chr4166361537166362053E081-28302
chr4166362349166362444E081-27911
chr4166362946166363021E081-27334
chr4166379131166379187E081-11168
chr4166379268166379334E081-11021
chr4166379773166380065E081-10290
chr4166381409166381508E081-8847
chr4166381671166381746E081-8609
chr4166381780166381831E081-8524
chr4166384764166384821E081-5534
chr4166385572166385757E081-4598
chr4166385882166386278E081-4077
chr4166414372166414469E08124017
chr4166414516166414868E08124161
chr4166433545166433595E08143190
chr4166433702166433900E08143347
chr4166360488166360542E082-29813
chr4166360599166360821E082-29534
chr4166361272166361388E082-28967
chr4166361537166362053E082-28302
chr4166362349166362444E082-27911
chr4166379131166379187E082-11168
chr4166379268166379334E082-11021
chr4166381409166381508E082-8847
chr4166381671166381746E082-8609
chr4166384764166384821E082-5534
chr4166385572166385757E082-4598
chr4166433545166433595E08243190
chr4166433702166433900E08243347