rs35355030

Homo sapiens
T>C
CPE : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0258 (7743/29936,GnomAD)
C=0248 (7239/29118,TOPMED)
C=0281 (1409/5008,1000G)
C=0289 (1114/3854,ALSPAC)
C=0291 (1079/3708,TWINSUK)
chr4:165394348 (GRCh38.p7) (4q32.3)
CD
GWASdb2
1   publication(s)
See rs on genome
81 Enhancers around
45 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.165394348T>C
GRCh37.p13 chr 4NC_000004.11:g.166315500T>C

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
1000GenomesAfricanSub1322T=0.851C=0.149
1000GenomesAmericanSub694T=0.760C=0.240
1000GenomesEast AsianSub1008T=0.570C=0.430
1000GenomesEuropeSub1006T=0.707C=0.293
1000GenomesGlobalStudy-wide5008T=0.719C=0.281
1000GenomesSouth AsianSub978T=0.680C=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.711C=0.289
The Genome Aggregation DatabaseAfricanSub8710T=0.824C=0.176
The Genome Aggregation DatabaseAmericanSub838T=0.760C=0.240
The Genome Aggregation DatabaseEast AsianSub1614T=0.591C=0.409
The Genome Aggregation DatabaseEuropeSub18472T=0.716C=0.283
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.741C=0.258
The Genome Aggregation DatabaseOtherSub302T=0.630C=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.751C=0.248
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.709C=0.291
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
rs353550300.00000756cocaine dependence,AA23958962
rs353550300.000066cocaine dependence23958962
rs353550300.000718cocaine dependence,AA23958962

eQTL of rs35355030 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:166315500HADHAP1ENSG00000251596.1T>C7.2487e-3-12002Cerebellar_Hemisphere

meQTL of rs35355030 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 )
chr4166361272166361388E06745772
chr4166361537166362053E06746037
chr4166362349166362444E06746849
chr4166304690166305574E068-9926
chr4166305601166305712E068-9788
chr4166305813166306093E068-9407
chr4166314350166314471E068-1029
chr4166314852166314961E068-539
chr4166335973166336035E06820473
chr4166336107166336178E06820607
chr4166340406166340481E06824906
chr4166360488166360542E06844988
chr4166360599166360821E06845099
chr4166361272166361388E06845772
chr4166361537166362053E06846037
chr4166314852166314961E069-539
chr4166360488166360542E06944988
chr4166360599166360821E06945099
chr4166361272166361388E06945772
chr4166361537166362053E06946037
chr4166311054166311169E071-4331
chr4166319771166320011E0714271
chr4166360488166360542E07144988
chr4166360599166360821E07145099
chr4166361272166361388E07145772
chr4166361537166362053E07146037
chr4166362349166362444E07146849
chr4166305601166305712E072-9788
chr4166361537166362053E07246037
chr4166362349166362444E07246849
chr4166314350166314471E073-1029
chr4166314852166314961E073-539
chr4166361537166362053E07346037
chr4166362349166362444E07346849
chr4166314852166314961E074-539
chr4166319771166320011E0744271
chr4166360488166360542E07444988
chr4166360599166360821E07445099
chr4166361272166361388E07445772
chr4166361537166362053E07446037
chr4166362349166362444E07446849
chr4166296781166296847E081-18653
chr4166297192166297261E081-18239
chr4166297602166297870E081-17630
chr4166304690166305574E081-9926
chr4166305601166305712E081-9788
chr4166306686166306736E081-8764
chr4166311054166311169E081-4331
chr4166319771166320011E0814271
chr4166323612166323834E0818112
chr4166324331166324463E0818831
chr4166324972166325111E0819472
chr4166325383166325478E0819883
chr4166335627166335693E08120127
chr4166335973166336035E08120473
chr4166336107166336178E08120607
chr4166337205166337320E08121705
chr4166338457166338570E08122957
chr4166360488166360542E08144988
chr4166360599166360821E08145099
chr4166361272166361388E08145772
chr4166361537166362053E08146037
chr4166362349166362444E08146849
chr4166362946166363021E08147446
chr4166297602166297870E082-17630
chr4166306686166306736E082-8764
chr4166316681166317279E0821181
chr4166319771166320011E0824271
chr4166323612166323834E0828112
chr4166324331166324463E0828831
chr4166324972166325111E0829472
chr4166325383166325478E0829883
chr4166326562166326627E08211062
chr4166335627166335693E08220127
chr4166335973166336035E08220473
chr4166336107166336178E08220607
chr4166360488166360542E08244988
chr4166360599166360821E08245099
chr4166361272166361388E08245772
chr4166361537166362053E08246037
chr4166362349166362444E08246849









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4166299673166301396E067-14104
chr4166302078166302212E067-13288
chr4166302434166302499E067-13001
chr4166303377166303610E067-11890
chr4166303770166303863E067-11637
chr4166267692166267747E068-47753
chr4166299673166301396E068-14104
chr4166302078166302212E068-13288
chr4166302434166302499E068-13001
chr4166303033166303293E068-12207
chr4166299673166301396E069-14104
chr4166302078166302212E069-13288
chr4166302434166302499E069-13001
chr4166303033166303293E069-12207
chr4166303377166303610E069-11890
chr4166303770166303863E069-11637
chr4166299673166301396E070-14104
chr4166299673166301396E071-14104
chr4166302078166302212E071-13288
chr4166302434166302499E071-13001
chr4166303033166303293E071-12207
chr4166303377166303610E071-11890
chr4166303770166303863E071-11637
chr4166299673166301396E072-14104
chr4166302078166302212E072-13288
chr4166302434166302499E072-13001
chr4166303770166303863E072-11637
chr4166299673166301396E073-14104
chr4166302078166302212E073-13288
chr4166302434166302499E073-13001
chr4166303033166303293E073-12207
chr4166299673166301396E074-14104
chr4166302078166302212E074-13288
chr4166299673166301396E081-14104
chr4166302078166302212E081-13288
chr4166302434166302499E081-13001
chr4166303033166303293E081-12207
chr4166303377166303610E081-11890
chr4166303770166303863E081-11637
chr4166299673166301396E082-14104
chr4166302078166302212E082-13288
chr4166302434166302499E082-13001
chr4166303033166303293E082-12207
chr4166303377166303610E082-11890
chr4166303770166303863E082-11637