rs4142248

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0061 (1854/29970,GnomAD)
C=0066 (1939/29118,TOPMED)
C=0112 (562/5008,1000G)
C=0038 (145/3854,ALSPAC)
C=0041 (152/3708,TWINSUK)
chr19:44384114 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
70 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44384114T>C
GRCh37.p13 chr 19NC_000019.9:g.44888276T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.944C=0.056
1000GenomesAmericanSub694T=0.730C=0.270
1000GenomesEast AsianSub1008T=0.825C=0.175
1000GenomesEuropeSub1006T=0.947C=0.053
1000GenomesGlobalStudy-wide5008T=0.888C=0.112
1000GenomesSouth AsianSub978T=0.930C=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.962C=0.038
The Genome Aggregation DatabaseAfricanSub8718T=0.950C=0.050
The Genome Aggregation DatabaseAmericanSub836T=0.710C=0.290
The Genome Aggregation DatabaseEast AsianSub1618T=0.824C=0.176
The Genome Aggregation DatabaseEuropeSub18496T=0.952C=0.047
The Genome Aggregation DatabaseGlobalStudy-wide29970T=0.938C=0.061
The Genome Aggregation DatabaseOtherSub302T=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.933C=0.066
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.959C=0.041
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs41422480.000477alcohol dependence20201924

eQTL of rs4142248 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 rs4142248 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 )
chr194484848244848707E068-39569
chr194485081344850952E068-37324
chr194485081344850952E070-37324
chr194484848244848707E074-39569



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194486014544860209E067-28067
chr194486025344860390E067-27886
chr194486047844861367E067-26909
chr194486139144861471E067-26805
chr194486148044861565E067-26711
chr194486172444861799E067-26477
chr194490500244906341E06716726
chr194491526744915431E06726991
chr194486014544860209E068-28067
chr194486025344860390E068-27886
chr194486047844861367E068-26909
chr194486139144861471E068-26805
chr194486148044861565E068-26711
chr194490500244906341E06816726
chr194486014544860209E069-28067
chr194486025344860390E069-27886
chr194486047844861367E069-26909
chr194486139144861471E069-26805
chr194486148044861565E069-26711
chr194486172444861799E069-26477
chr194490500244906341E06916726
chr194490664544906712E06918369
chr194491526744915431E06926991
chr194491547644915786E06927200
chr194486014544860209E070-28067
chr194486025344860390E070-27886
chr194486047844861367E070-26909
chr194486139144861471E070-26805
chr194486148044861565E070-26711
chr194490500244906341E07016726
chr194486014544860209E071-28067
chr194486025344860390E071-27886
chr194486047844861367E071-26909
chr194486139144861471E071-26805
chr194486148044861565E071-26711
chr194486172444861799E071-26477
chr194490500244906341E07116726
chr194486014544860209E072-28067
chr194486025344860390E072-27886
chr194486047844861367E072-26909
chr194486139144861471E072-26805
chr194486148044861565E072-26711
chr194486172444861799E072-26477
chr194490500244906341E07216726
chr194486014544860209E073-28067
chr194486025344860390E073-27886
chr194486047844861367E073-26909
chr194486139144861471E073-26805
chr194486148044861565E073-26711
chr194486172444861799E073-26477
chr194490500244906341E07316726
chr194486014544860209E074-28067
chr194486025344860390E074-27886
chr194486047844861367E074-26909
chr194486139144861471E074-26805
chr194486148044861565E074-26711
chr194490500244906341E07416726
chr194491526744915431E07426991
chr194491547644915786E07427200
chr194486014544860209E081-28067
chr194486025344860390E081-27886
chr194486047844861367E081-26909
chr194486139144861471E081-26805
chr194490500244906341E08116726
chr194486014544860209E082-28067
chr194486025344860390E082-27886
chr194486047844861367E082-26909
chr194486139144861471E082-26805
chr194486148044861565E082-26711
chr194490500244906341E08216726