rs11631496

Homo sapiens
T>C
CEP152 : Intron Variant
LOC101928472 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0144 (4212/29118,TOPMED)
C=0163 (4553/27834,GnomAD)
C=0102 (509/5008,1000G)
C=0240 (926/3854,ALSPAC)
C=0236 (874/3708,TWINSUK)
chr15:48783721 (GRCh38.p7) (15q21.1)
AD
GWASdb2
2   publication(s)
See rs on genome
18 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.48783721T>C
GRCh37.p13 chr 15NC_000015.9:g.49075918T>C
CEP152 RefSeqGeneNG_027518.1:g.32426A>G

Gene: CEP152, centrosomal protein 152(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CEP152 transcript variant 1NM_001194998.1:c.N/AIntron Variant
CEP152 transcript variant 2NM_014985.3:c.N/AIntron Variant
CEP152 transcript variant X1XM_006720437.3:c.N/AIntron Variant
CEP152 transcript variant X2XM_011521373.2:c.N/AIntron Variant
CEP152 transcript variant X4XM_011521374.2:c.N/AIntron Variant
CEP152 transcript variant X5XM_011521375.2:c.N/AIntron Variant
CEP152 transcript variant X10XM_011521378.2:c.N/AIntron Variant
CEP152 transcript variant X11XM_011521379.2:c.N/AIntron Variant
CEP152 transcript variant X3XM_017022014.1:c.N/AIntron Variant
CEP152 transcript variant X14XM_017022016.1:c.N/AIntron Variant
CEP152 transcript variant X12XM_011521381.2:c.N/AGenic Upstream Transcript Variant
CEP152 transcript variant X13XM_017022015.1:c.N/AGenic Upstream Transcript Variant
CEP152 transcript variant X7XR_001751153.1:n.N/AIntron Variant
CEP152 transcript variant X6XR_931769.2:n.N/AIntron Variant
CEP152 transcript variant X8XR_931770.2:n.N/AIntron Variant
CEP152 transcript variant X9XR_931775.2:n.N/AIntron Variant

Gene: LOC101928472, uncharacterized LOC101928472(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC101928472 transcriptXR_001751536.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.962C=0.038
1000GenomesAmericanSub694T=0.830C=0.170
1000GenomesEast AsianSub1008T=0.999C=0.001
1000GenomesEuropeSub1006T=0.777C=0.223
1000GenomesGlobalStudy-wide5008T=0.898C=0.102
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.760C=0.240
The Genome Aggregation DatabaseAfricanSub8426T=0.939C=0.061
The Genome Aggregation DatabaseAmericanSub518T=0.820C=0.180
The Genome Aggregation DatabaseEast AsianSub1622T=0.999C=0.001
The Genome Aggregation DatabaseEuropeSub16976T=0.772C=0.227
The Genome Aggregation DatabaseGlobalStudy-wide27834T=0.836C=0.163
The Genome Aggregation DatabaseOtherSub292T=0.730C=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.855C=0.144
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.764C=0.236
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
17999355A genomewide association study of skin pigmentation in a South Asian population.Stokowski RPAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs116314960.00085alcohol dependence20201924

eQTL of rs11631496 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 rs11631496 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 )
chr154910426049104313E06728342
chr154910433749104402E06728419
chr154911744649117583E06741528
chr154908682649087352E06810908
chr154911693149117097E06841013
chr154911744649117583E06841528
chr154909306649093151E06917148
chr154909322849093591E06917310
chr154909884849098995E07122930
chr154910426049104313E07128342
chr154910433749104402E07128419
chr154911693149117097E07141013
chr154911693149117097E07241013
chr154911744649117583E07241528
chr154909205649092106E07416138
chr154911744649117583E07441528
chr154910426049104313E08228342
chr154910433749104402E08228419







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr154910214349104248E06726225
chr154910214349104248E06826225
chr154910214349104248E06926225
chr154910214349104248E07026225
chr154910214349104248E07126225
chr154910214349104248E07226225
chr154910214349104248E07326225
chr154910214349104248E07426225
chr154910214349104248E08126225
chr154910466449104714E08128746
chr154910471849104903E08128800
chr154910214349104248E08226225