rs3782683

Homo sapiens
C>A / C>T
FOXJ2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0244 (7311/29872,GnomAD)
C==0218 (6355/29118,TOPMED)
C==0338 (1691/5008,1000G)
C==0217 (837/3854,ALSPAC)
C==0241 (892/3708,TWINSUK)
chr12:8039315 (GRCh38.p7) (12p13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
43 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.8039315C>A
GRCh38.p7 chr 12NC_000012.12:g.8039315C>T
GRCh37.p13 chr 12NC_000012.11:g.8191911C>A
GRCh37.p13 chr 12NC_000012.11:g.8191911C>T

Gene: FOXJ2, forkhead box J2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FOXJ2 transcriptNM_018416.2:c.N/AIntron Variant
FOXJ2 transcript variant X1XM_011520760.2:c.N/AIntron Variant
FOXJ2 transcript variant X2XM_011520761.2:c.N/AIntron Variant
FOXJ2 transcript variant X3XM_017019640.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.140A=0.860
1000GenomesAmericanSub694C=0.380A=0.620
1000GenomesEast AsianSub1008C=0.655A=0.345
1000GenomesEuropeSub1006C=0.224A=0.776
1000GenomesGlobalStudy-wide5008C=0.338A=0.662
1000GenomesSouth AsianSub978C=0.370A=0.630
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.217A=0.783
The Genome Aggregation DatabaseAfricanSub8684C=0.143T=0.000
The Genome Aggregation DatabaseAmericanSub830C=0.460T=0.00,
The Genome Aggregation DatabaseEast AsianSub1604C=0.628T=0.000
The Genome Aggregation DatabaseEuropeSub18454C=0.249T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29872C=0.244T=0.000
The Genome Aggregation DatabaseOtherSub300C=0.270T=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.218A=0.781
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.241A=0.759
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs37826830.00047alcohol consumption (maxi-drinks)24277619

eQTL of rs3782683 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 rs3782683 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 )
chr12987419987505E067-35686
chr12987552987639E067-35552
chr1210063711006421E067-16770
chr1210064231006510E067-16681
chr1210066671006727E067-16464
chr1210070091007059E067-16132
chr1210128061012880E067-10311
chr1210130601013110E067-10081
chr1210131421013568E067-9623
chr1210146271014684E067-8507
chr1210147501015218E067-7973
chr1210556361055705E06732445
chr1210130601013110E068-10081
chr1210131421013568E068-9623
chr1210145021014620E068-8571
chr1210146271014684E068-8507
chr1210147501015218E068-7973
chr1210063711006421E069-16770
chr1210064231006510E069-16681
chr1210066671006727E069-16464
chr1210141011014153E069-9038
chr1210141751014215E069-8976
chr1210145021014620E069-8571
chr1210146271014684E069-8507
chr1210147501015218E069-7973
chr1210571581057382E06933967
chr12980525980585E071-42606
chr1210131421013568E071-9623
chr1210136811013731E071-9460
chr1210229931023043E071-148
chr1210232071023920E07116
chr1210571581057382E07133967
chr1210130601013110E072-10081
chr1210131421013568E072-9623
chr1210136811013731E072-9460
chr1210138021013852E072-9339
chr1210141011014153E072-9038
chr1210141751014215E072-8976
chr1210054411005495E073-17696
chr1210063711006421E074-16770
chr1210064231006510E074-16681
chr1210066671006727E074-16464
chr1210241071024646E074916







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1210574991059547E06734308
chr1210574991059547E06834308
chr1210574991059547E06934308
chr1210574991059547E07034308
chr1210574991059547E07134308
chr1210574991059547E07234308
chr1210574991059547E07334308
chr1210574991059547E07434308
chr1210574991059547E08134308
chr1210574991059547E08234308