rs9631752

Homo sapiens
A>T
CPE : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0247 (7397/29906,GnomAD)
T=0224 (6521/29118,TOPMED)
T=0274 (1370/5008,1000G)
T=0279 (1076/3854,ALSPAC)
T=0282 (1047/3708,TWINSUK)
chr4:165390534 (GRCh38.p7) (4q32.3)
CD
GWASdb2
1   publication(s)
See rs on genome
64 Enhancers around
45 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.165390534A>T
GRCh37.p13 chr 4NC_000004.11:g.166311686A>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
1000GenomesAfricanSub1322A=0.864T=0.136
1000GenomesAmericanSub694A=0.760T=0.240
1000GenomesEast AsianSub1008A=0.571T=0.429
1000GenomesEuropeSub1006A=0.719T=0.281
1000GenomesGlobalStudy-wide5008A=0.726T=0.274
1000GenomesSouth AsianSub978A=0.680T=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.721T=0.279
The Genome Aggregation DatabaseAfricanSub8722A=0.837T=0.163
The Genome Aggregation DatabaseAmericanSub836A=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1612A=0.588T=0.412
The Genome Aggregation DatabaseEuropeSub18434A=0.727T=0.272
The Genome Aggregation DatabaseGlobalStudy-wide29906A=0.752T=0.247
The Genome Aggregation DatabaseOtherSub302A=0.660T=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.776T=0.224
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.718T=0.282
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
rs96317520.0000143cocaine dependence23958962
rs96317520.0000712cocaine dependence,AA23958962

eQTL of rs9631752 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:166311686HADHAP1ENSG00000251596.1A>T7.2487e-3-15816Cerebellar_Hemisphere

meQTL of rs9631752 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 )
chr4166361272166361388E06749586
chr4166304690166305574E068-6112
chr4166305601166305712E068-5974
chr4166305813166306093E068-5593
chr4166314350166314471E0682664
chr4166314852166314961E0683166
chr4166335973166336035E06824287
chr4166336107166336178E06824421
chr4166340406166340481E06828720
chr4166360488166360542E06848802
chr4166360599166360821E06848913
chr4166361272166361388E06849586
chr4166314852166314961E0693166
chr4166360488166360542E06948802
chr4166360599166360821E06948913
chr4166361272166361388E06949586
chr4166311054166311169E071-517
chr4166319771166320011E0718085
chr4166360488166360542E07148802
chr4166360599166360821E07148913
chr4166361272166361388E07149586
chr4166305601166305712E072-5974
chr4166314350166314471E0732664
chr4166314852166314961E0733166
chr4166314852166314961E0743166
chr4166319771166320011E0748085
chr4166360488166360542E07448802
chr4166360599166360821E07448913
chr4166361272166361388E07449586
chr4166296781166296847E081-14839
chr4166297192166297261E081-14425
chr4166297602166297870E081-13816
chr4166304690166305574E081-6112
chr4166305601166305712E081-5974
chr4166306686166306736E081-4950
chr4166311054166311169E081-517
chr4166319771166320011E0818085
chr4166323612166323834E08111926
chr4166324331166324463E08112645
chr4166324972166325111E08113286
chr4166325383166325478E08113697
chr4166335627166335693E08123941
chr4166335973166336035E08124287
chr4166336107166336178E08124421
chr4166337205166337320E08125519
chr4166338457166338570E08126771
chr4166360488166360542E08148802
chr4166360599166360821E08148913
chr4166361272166361388E08149586
chr4166297602166297870E082-13816
chr4166306686166306736E082-4950
chr4166316681166317279E0824995
chr4166319771166320011E0828085
chr4166323612166323834E08211926
chr4166324331166324463E08212645
chr4166324972166325111E08213286
chr4166325383166325478E08213697
chr4166326562166326627E08214876
chr4166335627166335693E08223941
chr4166335973166336035E08224287
chr4166336107166336178E08224421
chr4166360488166360542E08248802
chr4166360599166360821E08248913
chr4166361272166361388E08249586









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4166299673166301396E067-10290
chr4166302078166302212E067-9474
chr4166302434166302499E067-9187
chr4166303377166303610E067-8076
chr4166303770166303863E067-7823
chr4166267692166267747E068-43939
chr4166299673166301396E068-10290
chr4166302078166302212E068-9474
chr4166302434166302499E068-9187
chr4166303033166303293E068-8393
chr4166299673166301396E069-10290
chr4166302078166302212E069-9474
chr4166302434166302499E069-9187
chr4166303033166303293E069-8393
chr4166303377166303610E069-8076
chr4166303770166303863E069-7823
chr4166299673166301396E070-10290
chr4166299673166301396E071-10290
chr4166302078166302212E071-9474
chr4166302434166302499E071-9187
chr4166303033166303293E071-8393
chr4166303377166303610E071-8076
chr4166303770166303863E071-7823
chr4166299673166301396E072-10290
chr4166302078166302212E072-9474
chr4166302434166302499E072-9187
chr4166303770166303863E072-7823
chr4166299673166301396E073-10290
chr4166302078166302212E073-9474
chr4166302434166302499E073-9187
chr4166303033166303293E073-8393
chr4166299673166301396E074-10290
chr4166302078166302212E074-9474
chr4166299673166301396E081-10290
chr4166302078166302212E081-9474
chr4166302434166302499E081-9187
chr4166303033166303293E081-8393
chr4166303377166303610E081-8076
chr4166303770166303863E081-7823
chr4166299673166301396E082-10290
chr4166302078166302212E082-9474
chr4166302434166302499E082-9187
chr4166303033166303293E082-8393
chr4166303377166303610E082-8076
chr4166303770166303863E082-7823