rs10167252

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0114 (3427/29840,GnomAD)
T==0116 (3377/29118,TOPMED)
T==0137 (685/5008,1000G)
T==0175 (676/3854,ALSPAC)
T==0191 (707/3708,TWINSUK)
chr2:237963604 (GRCh38.p7) (2q37.3)
AD
GWASdb2
1   publication(s)
See rs on genome
118 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.237963604T>C
GRCh37.p13 chr 2NC_000002.11:g.238872246T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.048C=0.952
1000GenomesAmericanSub694T=0.170C=0.830
1000GenomesEast AsianSub1008T=0.030C=0.970
1000GenomesEuropeSub1006T=0.164C=0.836
1000GenomesGlobalStudy-wide5008T=0.137C=0.863
1000GenomesSouth AsianSub978T=0.310C=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.175C=0.825
The Genome Aggregation DatabaseAfricanSub8690T=0.066C=0.934
The Genome Aggregation DatabaseAmericanSub836T=0.170C=0.830
The Genome Aggregation DatabaseEast AsianSub1620T=0.030C=0.970
The Genome Aggregation DatabaseEuropeSub18394T=0.143C=0.857
The Genome Aggregation DatabaseGlobalStudy-wide29840T=0.114C=0.885
The Genome Aggregation DatabaseOtherSub300T=0.110C=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.116C=0.884
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.191C=0.809
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs101672520.000129alcohol consumption23743675

eQTL of rs10167252 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:238872246SCLYENSG00000132330.12T>C7.8532e-10-97284Cerebellum
Chr2:238872246SCLYENSG00000132330.12T>C1.0714e-8-97284Cortex
Chr2:238872246SCLYENSG00000132330.12T>C2.0850e-8-97284Cerebellar_Hemisphere
Chr2:238872246SCLYENSG00000132330.12T>C7.2091e-4-97284Anterior_cingulate_cortex

meQTL of rs10167252 in Fetal Brain

Probe ID Position Gene beta p-value
cg03558837chr2:239029375ESPNL0.06796334904888721.3602e-15

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 )
chr2238834367238834417E067-37829
chr2238877816238878038E0675570
chr2238878398238878539E0676152
chr2238878551238878601E0676305
chr2238878666238878738E0676420
chr2238879158238879263E0676912
chr2238886584238886634E06714338
chr2238886907238887414E06714661
chr2238888018238888228E06715772
chr2238888415238888465E06716169
chr2238888921238888998E06716675
chr2238889558238889737E06717312
chr2238889976238890179E06717730
chr2238893121238893238E06720875
chr2238904560238904874E06732314
chr2238904955238905113E06732709
chr2238917607238917771E06745361
chr2238826026238826224E068-46022
chr2238851806238851846E068-20400
chr2238851954238852295E068-19951
chr2238877816238878038E0685570
chr2238878398238878539E0686152
chr2238878551238878601E0686305
chr2238878666238878738E0686420
chr2238879158238879263E0686912
chr2238886584238886634E06814338
chr2238886907238887414E06814661
chr2238888018238888228E06815772
chr2238888415238888465E06816169
chr2238888921238888998E06816675
chr2238889558238889737E06817312
chr2238889976238890179E06817730
chr2238892164238892276E06819918
chr2238893121238893238E06820875
chr2238840070238840408E069-31838
chr2238877816238878038E0695570
chr2238878398238878539E0696152
chr2238878551238878601E0696305
chr2238878666238878738E0696420
chr2238886584238886634E06914338
chr2238886907238887414E06914661
chr2238888018238888228E06915772
chr2238888921238888998E06916675
chr2238889558238889737E06917312
chr2238893121238893238E06920875
chr2238904955238905113E06932709
chr2238918301238918438E06946055
chr2238919370238919610E06947124
chr2238919757238919867E06947511
chr2238886584238886634E07014338
chr2238886907238887414E07014661
chr2238888921238888998E07016675
chr2238840070238840408E071-31838
chr2238851806238851846E071-20400
chr2238851954238852295E071-19951
chr2238878666238878738E0716420
chr2238879158238879263E0716912
chr2238886011238886062E07113765
chr2238886584238886634E07114338
chr2238886907238887414E07114661
chr2238888018238888228E07115772
chr2238888415238888465E07116169
chr2238888921238888998E07116675
chr2238893121238893238E07120875
chr2238917607238917771E07145361
chr2238917904238917968E07145658
chr2238918301238918438E07146055
chr2238919370238919610E07147124
chr2238919757238919867E07147511
chr2238867147238867197E072-5049
chr2238878551238878601E0726305
chr2238886011238886062E07213765
chr2238886584238886634E07214338
chr2238886907238887414E07214661
chr2238888018238888228E07215772
chr2238888415238888465E07216169
chr2238888921238888998E07216675
chr2238889558238889737E07217312
chr2238893121238893238E07220875
chr2238917607238917771E07245361
chr2238840070238840408E073-31838
chr2238878551238878601E0736305
chr2238878666238878738E0736420
chr2238886011238886062E07313765
chr2238886584238886634E07314338
chr2238886907238887414E07314661
chr2238888018238888228E07315772
chr2238888415238888465E07316169
chr2238888921238888998E07316675
chr2238889558238889737E07317312
chr2238892164238892276E07319918
chr2238893121238893238E07320875
chr2238840070238840408E074-31838
chr2238851954238852295E074-19951
chr2238878551238878601E0746305
chr2238878666238878738E0746420
chr2238879158238879263E0746912
chr2238880434238880549E0748188
chr2238880894238880969E0748648
chr2238884641238884818E07412395
chr2238886011238886062E07413765
chr2238886584238886634E07414338
chr2238886907238887414E07414661
chr2238888921238888998E07416675
chr2238889558238889737E07417312
chr2238889976238890179E07417730
chr2238893121238893238E07420875
chr2238904560238904874E07432314
chr2238904955238905113E07432709
chr2238915164238915422E07442918
chr2238917607238917771E07445361
chr2238917904238917968E07445658
chr2238918301238918438E07446055
chr2238919370238919610E07447124
chr2238919757238919867E07447511
chr2238877816238878038E0815570
chr2238878398238878539E0816152
chr2238886907238887414E08214661










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238874796238876104E0672550
chr2238876111238876550E0673865
chr2238864688238864740E068-7506
chr2238864741238864973E068-7273
chr2238865051238865134E068-7112
chr2238865144238865248E068-6998
chr2238874796238876104E0682550
chr2238876111238876550E0683865
chr2238865051238865134E069-7112
chr2238865144238865248E069-6998
chr2238874796238876104E0692550
chr2238876111238876550E0693865
chr2238864741238864973E070-7273
chr2238874796238876104E0702550
chr2238876111238876550E0703865
chr2238874796238876104E0712550
chr2238876111238876550E0713865
chr2238874796238876104E0722550
chr2238876111238876550E0723865
chr2238865051238865134E073-7112
chr2238865144238865248E073-6998
chr2238874796238876104E0732550
chr2238876111238876550E0733865
chr2238874796238876104E0742550
chr2238876111238876550E0743865
chr2238876111238876550E0813865
chr2238864688238864740E082-7506
chr2238864741238864973E082-7273
chr2238865051238865134E082-7112
chr2238865144238865248E082-6998
chr2238874796238876104E0822550
chr2238876111238876550E0823865