rs4510219

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0154 (4634/29914,GnomAD)
C=0142 (4159/29118,TOPMED)
C=0215 (1078/5008,1000G)
C=0143 (553/3854,ALSPAC)
C=0139 (515/3708,TWINSUK)
chr2:226284006 (GRCh38.p7) (2q36.3)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.226284006A>C
GRCh37.p13 chr 2NC_000002.11:g.227148722A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.876C=0.124
1000GenomesAmericanSub694A=0.820C=0.180
1000GenomesEast AsianSub1008A=0.656C=0.344
1000GenomesEuropeSub1006A=0.833C=0.167
1000GenomesGlobalStudy-wide5008A=0.785C=0.215
1000GenomesSouth AsianSub978A=0.720C=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.857C=0.143
The Genome Aggregation DatabaseAfricanSub8704A=0.872C=0.128
The Genome Aggregation DatabaseAmericanSub838A=0.820C=0.180
The Genome Aggregation DatabaseEast AsianSub1594A=0.639C=0.361
The Genome Aggregation DatabaseEuropeSub18476A=0.852C=0.147
The Genome Aggregation DatabaseGlobalStudy-wide29914A=0.845C=0.154
The Genome Aggregation DatabaseOtherSub302A=0.790C=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.857C=0.142
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.861C=0.139
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
rs45102190.0000486alcoholismpha002893
rs45102190.000049alcohol dependence20201924
rs45102190.00024alcohol dependence(early age of onset)20201924

eQTL of rs4510219 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 rs4510219 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 )
chr2227135520227135575E071-13147
chr2227136481227136574E071-12148
chr2227137217227137341E071-11381
chr2227137217227137341E072-11381
chr2227137466227137690E072-11032
chr2227137217227137341E074-11381
chr2227137466227137690E074-11032
chr2227159820227160820E08111098
chr2227164979227165207E08116257
chr2227165311227165452E08116589
chr2227165697227166211E08116975
chr2227176871227176911E08128149
chr2227177000227177137E08128278
chr2227177562227178192E08128840
chr2227099483227099572E082-49150
chr2227099617227099684E082-49038
chr2227099742227099862E082-48860
chr2227100042227100132E082-48590
chr2227159717227159772E08210995
chr2227164979227165207E08216257
chr2227165311227165452E08216589
chr2227177562227178192E08228840