rs1453048

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0010 (299/29970,GnomAD)
T=0015 (448/29118,TOPMED)
T=0010 (49/5008,1000G)
T=0000 (1/3854,ALSPAC)
T=0001 (2/3708,TWINSUK)
chr4:41304991 (GRCh38.p7) (4p13)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
36 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.41304991C>T
GRCh37.p13 chr 4NC_000004.11:g.41307008C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.967T=0.033
1000GenomesAmericanSub694C=0.990T=0.010
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=1.000T=0.000
1000GenomesGlobalStudy-wide5008C=0.990T=0.010
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub8720C=0.967T=0.033
The Genome Aggregation DatabaseAmericanSub836C=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1622C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18490C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29970C=0.990T=0.010
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.984T=0.015
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.999T=0.001
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs14530480.000725alcohol dependence21314694

eQTL of rs1453048 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 rs1453048 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 )
chr44134189241342848E06734884
chr44133153641331702E06824528
chr44134189241342848E06934884
chr44128304041283515E071-23493
chr44132803541328099E07121027
chr44132810141328161E07121093
chr44133153641331702E07124528
chr44134189241342848E07134884
chr44134189241342848E07334884
chr44128304041283515E074-23493
chr44133153641331702E07424528
chr44134189241342848E07434884
chr44128304041283515E081-23493
chr44134189241342848E08134884
chr44134189241342848E08234884








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr44125794941258187E067-48821
chr44125821941260231E067-46777
chr44126027341260387E067-46621
chr44126051541260673E067-46335
chr44125794941258187E068-48821
chr44125821941260231E068-46777
chr44126027341260387E068-46621
chr44126051541260673E068-46335
chr44125794941258187E069-48821
chr44125821941260231E069-46777
chr44126027341260387E069-46621
chr44126051541260673E069-46335
chr44125794941258187E070-48821
chr44125821941260231E070-46777
chr44126027341260387E070-46621
chr44126051541260673E070-46335
chr44125821941260231E071-46777
chr44126027341260387E071-46621
chr44126051541260673E071-46335
chr44125794941258187E072-48821
chr44125821941260231E072-46777
chr44126027341260387E072-46621
chr44126051541260673E072-46335
chr44125794941258187E073-48821
chr44125821941260231E073-46777
chr44126027341260387E073-46621
chr44126051541260673E073-46335
chr44125821941260231E074-46777
chr44125794941258187E081-48821
chr44125821941260231E081-46777
chr44126027341260387E081-46621
chr44126051541260673E081-46335
chr44125794941258187E082-48821
chr44125821941260231E082-46777
chr44126027341260387E082-46621
chr44126051541260673E082-46335