rs2674048

Homo sapiens
C>G / C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0288 (8600/29828,GnomAD)
T=0303 (8838/29116,TOPMED)
T=0352 (1764/5008,1000G)
T=0305 (1175/3854,ALSPAC)
T=0313 (1160/3708,TWINSUK)
chr2:59541877 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.59541877C>G
GRCh38.p7 chr 2NC_000002.12:g.59541877C>T
GRCh37.p13 chr 2NC_000002.11:g.59769012C>G
GRCh37.p13 chr 2NC_000002.11:g.59769012C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.744T=0.256
1000GenomesAmericanSub694C=0.600T=0.400
1000GenomesEast AsianSub1008C=0.477T=0.523
1000GenomesEuropeSub1006C=0.688T=0.312
1000GenomesGlobalStudy-wide5008C=0.648T=0.352
1000GenomesSouth AsianSub978C=0.680T=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.695T=0.305
The Genome Aggregation DatabaseAfricanSub8696C=0.739G=0.000
The Genome Aggregation DatabaseAmericanSub834C=0.590G=0.00,
The Genome Aggregation DatabaseEast AsianSub1604C=0.471G=0.000
The Genome Aggregation DatabaseEuropeSub18394C=0.726G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29828C=0.711G=0.000
The Genome Aggregation DatabaseOtherSub300C=0.660G=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.696T=0.303
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.687T=0.313
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
rs26740487E-05alcohol consumption23743675

eQTL of rs2674048 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 rs2674048 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 )
chr2102842768102842859E067-14404
chr2102843334102845009E067-12254
chr2102856979102857777E0670
chr2102841599102841765E068-15498
chr2102841981102842078E068-15185
chr2102842768102842859E068-14404
chr2102856979102857777E0680
chr2102842768102842859E069-14404
chr2102856979102857777E0690
chr2102843334102845009E070-12254
chr2102868374102868414E07011111
chr2102841599102841765E071-15498
chr2102841981102842078E071-15185
chr2102842768102842859E071-14404
chr2102856979102857777E0710
chr2102857870102858077E071607
chr2102842768102842859E072-14404
chr2102843334102845009E072-12254
chr2102856979102857777E0720
chr2102842768102842859E073-14404
chr2102843334102845009E073-12254
chr2102856979102857777E0730
chr2102841599102841765E074-15498
chr2102841981102842078E074-15185
chr2102842768102842859E074-14404
chr2102843334102845009E074-12254
chr2102856979102857777E0740
chr2102842768102842859E081-14404









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2102867321102867902E06710058
chr2102867922102868338E06710659
chr2102867321102867902E06810058
chr2102867922102868338E06810659
chr2102867321102867902E06910058
chr2102867922102868338E07010659
chr2102867321102867902E07110058
chr2102867922102868338E07110659
chr2102867321102867902E07210058
chr2102867922102868338E07210659
chr2102867321102867902E07310058
chr2102867321102867902E07410058
chr2102867922102868338E07410659
chr2102867321102867902E08110058
chr2102867922102868338E08110659
chr2102867321102867902E08210058
chr2102867922102868338E08210659