rs7243707

Homo sapiens
A>C
SLC14A2 : Intron Variant
LOC105372093 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0451 (13501/29922,GnomAD)
A==0448 (13050/29118,TOPMED)
A==0474 (2372/5008,1000G)
A==0474 (1828/3854,ALSPAC)
A==0466 (1729/3708,TWINSUK)
chr18:45652309 (GRCh38.p7) (18q12.3)
AD
GWASdb2
1   publication(s)
See rs on genome
12 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.45652309A>C
GRCh37.p13 chr 18NC_000018.9:g.43232274A>C

Gene: SLC14A2, solute carrier family 14 member 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC14A2 transcript variant 2NM_001242692.1:c.N/AIntron Variant
SLC14A2 transcript variant 1NM_007163.3:c.N/AIntron Variant
SLC14A2 transcript variant X1XM_017026015.1:c.N/AIntron Variant
SLC14A2 transcript variant X2XM_017026016.1:c.N/AIntron Variant

Gene: LOC105372093, uncharacterized LOC105372093(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105372093 transcript variant X1XR_935423.2:n.N/AIntron Variant
LOC105372093 transcript variant X2XR_001753561.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.409C=0.591
1000GenomesAmericanSub694A=0.410C=0.590
1000GenomesEast AsianSub1008A=0.553C=0.447
1000GenomesEuropeSub1006A=0.482C=0.518
1000GenomesGlobalStudy-wide5008A=0.474C=0.526
1000GenomesSouth AsianSub978A=0.520C=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.474C=0.526
The Genome Aggregation DatabaseAfricanSub8708A=0.418C=0.582
The Genome Aggregation DatabaseAmericanSub834A=0.440C=0.560
The Genome Aggregation DatabaseEast AsianSub1616A=0.587C=0.413
The Genome Aggregation DatabaseEuropeSub18462A=0.454C=0.545
The Genome Aggregation DatabaseGlobalStudy-wide29922A=0.451C=0.548
The Genome Aggregation DatabaseOtherSub302A=0.510C=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.448C=0.551
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.466C=0.534
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
rs72437070.00061alcohol dependence20201924

eQTL of rs7243707 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 rs7243707 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 )
chr184319912843200100E067-32174
chr184319715743197893E068-34381
chr184320139943201554E068-30720
chr184320611843207107E068-25167
chr184320711143207381E068-24893
chr184320739743207475E068-24799
chr184319912843200100E071-32174
chr184320013243200397E071-31877
chr184320093043201385E071-30889
chr184320139943201554E071-30720
chr184319901843199118E073-33156
chr184319912843200100E073-32174