rs3795536

Homo sapiens
G>A
MARC2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0301 (9004/29864,GnomAD)
A=0323 (9431/29116,TOPMED)
A=0412 (2062/5008,1000G)
A=0174 (670/3854,ALSPAC)
A=0191 (710/3708,TWINSUK)
chr1:220762635 (GRCh38.p7) (1q41)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.220762635G>A
GRCh37.p13 chr 1NC_000001.10:g.220935977G>A

Gene: MARC2, mitochondrial amidoxime reducing component 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MARC2 transcript variant 1NM_001317338.1:c.N/AIntron Variant
MARC2 transcript variant 2NM_017898.4:c.N/AIntron Variant
MARC2 transcript variant X6XM_006711407.2:c.N/AIntron Variant
MARC2 transcript variant X2XM_011509684.1:c.N/AIntron Variant
MARC2 transcript variant X4XM_017001581.1:c.N/AIntron Variant
MARC2 transcript variant X1XR_001737257.1:n.N/AIntron Variant
MARC2 transcript variant X3XR_001737258.1:n.N/AIntron Variant
MARC2 transcript variant X2XR_247029.4:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.589A=0.411
1000GenomesAmericanSub694G=0.600A=0.400
1000GenomesEast AsianSub1008G=0.313A=0.687
1000GenomesEuropeSub1006G=0.792A=0.208
1000GenomesGlobalStudy-wide5008G=0.588A=0.412
1000GenomesSouth AsianSub978G=0.650A=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.826A=0.174
The Genome Aggregation DatabaseAfricanSub8674G=0.607A=0.393
The Genome Aggregation DatabaseAmericanSub838G=0.610A=0.390
The Genome Aggregation DatabaseEast AsianSub1616G=0.299A=0.701
The Genome Aggregation DatabaseEuropeSub18434G=0.780A=0.220
The Genome Aggregation DatabaseGlobalStudy-wide29864G=0.698A=0.301
The Genome Aggregation DatabaseOtherSub302G=0.720A=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.676A=0.323
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.809A=0.191
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
rs37955360.000619alcohol dependence20201924

eQTL of rs3795536 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:2209359773/2/2018 12:00:00 AMENSG00000117791.11G>A5.6644e-514410Cerebellum

meQTL of rs3795536 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 )
chr1220905971220906038E067-29939
chr1220906086220907026E067-28951
chr1220924196220924295E067-11682
chr1220924566220924756E067-11221
chr1220924760220924925E067-11052
chr1220924968220925018E067-10959
chr1220905971220906038E068-29939
chr1220924002220924069E068-11908
chr1220924196220924295E068-11682
chr1220924566220924756E068-11221
chr1220924760220924925E068-11052
chr1220949983220950398E06814006
chr1220964957220965020E06828980
chr1220924002220924069E069-11908
chr1220924196220924295E069-11682
chr1220924566220924756E069-11221
chr1220924760220924925E069-11052
chr1220924968220925018E069-10959
chr1220925119220925171E069-10806
chr1220948707220948824E06912730
chr1220959223220959339E06923246
chr1220923190220923886E070-12091
chr1220924002220924069E070-11908
chr1220924196220924295E070-11682
chr1220924566220924756E070-11221
chr1220924760220924925E070-11052
chr1220959223220959339E07023246
chr1220961418220961855E07025441
chr1220905971220906038E071-29939
chr1220924002220924069E071-11908
chr1220924196220924295E071-11682
chr1220924566220924756E071-11221
chr1220981535220981750E07145558
chr1220949983220950398E07214006
chr1220961418220961855E07225441
chr1220964754220964899E07228777
chr1220964957220965020E07228980
chr1220906086220907026E073-28951
chr1220924002220924069E073-11908
chr1220924196220924295E073-11682
chr1220924566220924756E073-11221
chr1220924760220924925E073-11052
chr1220924968220925018E073-10959
chr1220925119220925171E073-10806
chr1220964754220964899E07328777
chr1220964957220965020E07328980
chr1220959223220959339E07423246
chr1220905971220906038E081-29939
chr1220924196220924295E081-11682
chr1220924566220924756E081-11221
chr1220924760220924925E081-11052
chr1220924968220925018E081-10959
chr1220925119220925171E081-10806
chr1220925374220925452E081-10525
chr1220949983220950398E08114006
chr1220950424220950489E08114447
chr1220959223220959339E08123246
chr1220961418220961855E08125441
chr1220964365220964585E08128388
chr1220964754220964899E08128777
chr1220964957220965020E08128980
chr1220920704220920768E082-15209
chr1220924566220924756E082-11221
chr1220924760220924925E082-11052
chr1220924968220925018E082-10959
chr1220925119220925171E082-10806
chr1220925374220925452E082-10525
chr1220958994220959094E08223017










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1220920901220922731E067-13246
chr1220959444220961072E06723467
chr1220920901220922731E068-13246
chr1220959444220961072E06823467
chr1220920901220922731E069-13246
chr1220959444220961072E06923467
chr1220920901220922731E070-13246
chr1220959444220961072E07023467
chr1220920901220922731E071-13246
chr1220959444220961072E07123467
chr1220920901220922731E072-13246
chr1220959444220961072E07223467
chr1220920901220922731E073-13246
chr1220959444220961072E07323467
chr1220920901220922731E074-13246
chr1220959444220961072E07423467
chr1220920901220922731E082-13246
chr1220959444220961072E08223467