rs4691188

Homo sapiens
C>T
CPE : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0245 (7318/29838,GnomAD)
T=0223 (6509/29118,TOPMED)
T=0271 (1356/5008,1000G)
T=0278 (1073/3854,ALSPAC)
T=0279 (1036/3708,TWINSUK)
chr4:165391348 (GRCh38.p7) (4q32.3)
CD
GWASdb2
1   publication(s)
See rs on genome
80 Enhancers around
45 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.165391348C>T
GRCh37.p13 chr 4NC_000004.11:g.166312500C>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=0.864T=0.136
1000GenomesAmericanSub694C=0.760T=0.240
1000GenomesEast AsianSub1008C=0.584T=0.416
1000GenomesEuropeSub1006C=0.719T=0.281
1000GenomesGlobalStudy-wide5008C=0.729T=0.271
1000GenomesSouth AsianSub978C=0.680T=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.722T=0.278
The Genome Aggregation DatabaseAfricanSub8696C=0.839T=0.161
The Genome Aggregation DatabaseAmericanSub834C=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1604C=0.606T=0.394
The Genome Aggregation DatabaseEuropeSub18402C=0.728T=0.271
The Genome Aggregation DatabaseGlobalStudy-wide29838C=0.754T=0.245
The Genome Aggregation DatabaseOtherSub302C=0.660T=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.776T=0.223
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.721T=0.279
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
rs46911880.00000294cocaine dependence,AA23958962
rs46911880.0000349cocaine dependence23958962
rs46911880.000464cocaine dependence23958962

eQTL of rs4691188 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:166312500HADHAP1ENSG00000251596.1C>T7.2487e-3-15002Cerebellar_Hemisphere

meQTL of rs4691188 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 )
chr4166361272166361388E06748772
chr4166361537166362053E06749037
chr4166362349166362444E06749849
chr4166304690166305574E068-6926
chr4166305601166305712E068-6788
chr4166305813166306093E068-6407
chr4166314350166314471E0681850
chr4166314852166314961E0682352
chr4166335973166336035E06823473
chr4166336107166336178E06823607
chr4166340406166340481E06827906
chr4166360488166360542E06847988
chr4166360599166360821E06848099
chr4166361272166361388E06848772
chr4166361537166362053E06849037
chr4166314852166314961E0692352
chr4166360488166360542E06947988
chr4166360599166360821E06948099
chr4166361272166361388E06948772
chr4166361537166362053E06949037
chr4166311054166311169E071-1331
chr4166319771166320011E0717271
chr4166360488166360542E07147988
chr4166360599166360821E07148099
chr4166361272166361388E07148772
chr4166361537166362053E07149037
chr4166362349166362444E07149849
chr4166305601166305712E072-6788
chr4166361537166362053E07249037
chr4166362349166362444E07249849
chr4166314350166314471E0731850
chr4166314852166314961E0732352
chr4166361537166362053E07349037
chr4166362349166362444E07349849
chr4166314852166314961E0742352
chr4166319771166320011E0747271
chr4166360488166360542E07447988
chr4166360599166360821E07448099
chr4166361272166361388E07448772
chr4166361537166362053E07449037
chr4166362349166362444E07449849
chr4166296781166296847E081-15653
chr4166297192166297261E081-15239
chr4166297602166297870E081-14630
chr4166304690166305574E081-6926
chr4166305601166305712E081-6788
chr4166306686166306736E081-5764
chr4166311054166311169E081-1331
chr4166319771166320011E0817271
chr4166323612166323834E08111112
chr4166324331166324463E08111831
chr4166324972166325111E08112472
chr4166325383166325478E08112883
chr4166335627166335693E08123127
chr4166335973166336035E08123473
chr4166336107166336178E08123607
chr4166337205166337320E08124705
chr4166338457166338570E08125957
chr4166360488166360542E08147988
chr4166360599166360821E08148099
chr4166361272166361388E08148772
chr4166361537166362053E08149037
chr4166362349166362444E08149849
chr4166297602166297870E082-14630
chr4166306686166306736E082-5764
chr4166316681166317279E0824181
chr4166319771166320011E0827271
chr4166323612166323834E08211112
chr4166324331166324463E08211831
chr4166324972166325111E08212472
chr4166325383166325478E08212883
chr4166326562166326627E08214062
chr4166335627166335693E08223127
chr4166335973166336035E08223473
chr4166336107166336178E08223607
chr4166360488166360542E08247988
chr4166360599166360821E08248099
chr4166361272166361388E08248772
chr4166361537166362053E08249037
chr4166362349166362444E08249849









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4166299673166301396E067-11104
chr4166302078166302212E067-10288
chr4166302434166302499E067-10001
chr4166303377166303610E067-8890
chr4166303770166303863E067-8637
chr4166267692166267747E068-44753
chr4166299673166301396E068-11104
chr4166302078166302212E068-10288
chr4166302434166302499E068-10001
chr4166303033166303293E068-9207
chr4166299673166301396E069-11104
chr4166302078166302212E069-10288
chr4166302434166302499E069-10001
chr4166303033166303293E069-9207
chr4166303377166303610E069-8890
chr4166303770166303863E069-8637
chr4166299673166301396E070-11104
chr4166299673166301396E071-11104
chr4166302078166302212E071-10288
chr4166302434166302499E071-10001
chr4166303033166303293E071-9207
chr4166303377166303610E071-8890
chr4166303770166303863E071-8637
chr4166299673166301396E072-11104
chr4166302078166302212E072-10288
chr4166302434166302499E072-10001
chr4166303770166303863E072-8637
chr4166299673166301396E073-11104
chr4166302078166302212E073-10288
chr4166302434166302499E073-10001
chr4166303033166303293E073-9207
chr4166299673166301396E074-11104
chr4166302078166302212E074-10288
chr4166299673166301396E081-11104
chr4166302078166302212E081-10288
chr4166302434166302499E081-10001
chr4166303033166303293E081-9207
chr4166303377166303610E081-8890
chr4166303770166303863E081-8637
chr4166299673166301396E082-11104
chr4166302078166302212E082-10288
chr4166302434166302499E082-10001
chr4166303033166303293E082-9207
chr4166303377166303610E082-8890
chr4166303770166303863E082-8637