rs13238274

Homo sapiens
C>T
CPVL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0123 (3703/29964,GnomAD)
T=0111 (3241/29118,TOPMED)
T=0089 (444/5008,1000G)
T=0140 (541/3854,ALSPAC)
T=0141 (522/3708,TWINSUK)
chr7:29140719 (GRCh38.p7) (7p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
42 Enhancers around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.29140719C>T
GRCh37.p13 chr 7NC_000007.13:g.29180335C>T

Gene: CPVL, carboxypeptidase, vitellogenic like(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CPVL transcript variant 2NM_019029.2:c.N/AIntron Variant
CPVL transcript variant 1NM_031311.3:c.N/AIntron Variant
CPVL transcript variant X1XM_011515437.1:c.N/AIntron Variant
CPVL transcript variant X2XM_017012366.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.923T=0.077
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.963T=0.037
1000GenomesEuropeSub1006C=0.845T=0.155
1000GenomesGlobalStudy-wide5008C=0.911T=0.089
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.860T=0.140
The Genome Aggregation DatabaseAfricanSub8728C=0.908T=0.092
The Genome Aggregation DatabaseAmericanSub838C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1616C=0.964T=0.036
The Genome Aggregation DatabaseEuropeSub18480C=0.851T=0.148
The Genome Aggregation DatabaseGlobalStudy-wide29964C=0.876T=0.123
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.888T=0.111
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.859T=0.141
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs132382749.04E-05alcohol dependence21314694

eQTL of rs13238274 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 rs13238274 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 )
chr72915650929156754E070-23581
chr72915676029156903E070-23432
chr72915698129157116E070-23219
chr72916141329161453E070-18882
chr72916167029161720E070-18615
chr72916178329161951E070-18384
chr72916198229162320E070-18015
chr72916243529162673E070-17662
chr72919035429190705E07010019
chr72919094129191018E07010606
chr72919107029191120E07010735
chr72919151129191561E07011176
chr72919166929192011E07011334
chr72915309029153268E072-27067
chr72915449929154601E072-25734
chr72914206029142727E074-37608
chr72914272829142808E074-37527
chr72915600629156504E074-23831
chr72915650929156754E074-23581
chr72915676029156903E074-23432
chr72913196529132018E081-48317
chr72913247629132552E081-47783
chr72913259729132655E081-47680
chr72913288429132982E081-47353
chr72913318329133223E081-47112
chr72913441129134595E081-45740
chr72913647729136527E081-43808
chr72914571429145770E081-34565
chr72914579429145848E081-34487
chr72914593129146294E081-34041
chr72915650929156754E081-23581
chr72915676029156903E081-23432
chr72915698129157116E081-23219
chr72915792529158101E081-22234
chr72915482029155011E082-25324
chr72915505029155190E082-25145
chr72915550429155664E082-24671
chr72915587029155994E082-24341
chr72915600629156504E082-23831
chr72915650929156754E082-23581
chr72915676029156903E082-23432
chr72915698129157116E082-23219





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr72918536229187278E0675027
chr72918536229187278E0685027
chr72918536229187278E0725027