rs11118597

Homo sapiens
G>A
MARC2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0331 (9891/29884,GnomAD)
A=0363 (10583/29116,TOPMED)
A=0459 (2299/5008,1000G)
A=0180 (695/3854,ALSPAC)
A=0196 (725/3708,TWINSUK)
chr1:220763226 (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.220763226G>A
GRCh37.p13 chr 1NC_000001.10:g.220936568G>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=0.495A=0.505
1000GenomesAmericanSub694G=0.590A=0.410
1000GenomesEast AsianSub1008G=0.255A=0.745
1000GenomesEuropeSub1006G=0.781A=0.219
1000GenomesGlobalStudy-wide5008G=0.541A=0.459
1000GenomesSouth AsianSub978G=0.610A=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.820A=0.180
The Genome Aggregation DatabaseAfricanSub8684G=0.527A=0.473
The Genome Aggregation DatabaseAmericanSub838G=0.610A=0.390
The Genome Aggregation DatabaseEast AsianSub1614G=0.233A=0.767
The Genome Aggregation DatabaseEuropeSub18446G=0.776A=0.223
The Genome Aggregation DatabaseGlobalStudy-wide29884G=0.669A=0.331
The Genome Aggregation DatabaseOtherSub302G=0.710A=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.636A=0.363
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.804A=0.196
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
rs111185970.000446alcohol dependence20201924

eQTL of rs11118597 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:2209365683/2/2018 12:00:00 AMENSG00000117791.11G>A5.6644e-515001Cerebellum
Chr1:2209365683/2/2018 12:00:00 AMENSG00000117791.11G>A1.6577e-315001Cerebellar_Hemisphere

meQTL of rs11118597 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 )
chr1220905971220906038E067-30530
chr1220906086220907026E067-29542
chr1220924196220924295E067-12273
chr1220924566220924756E067-11812
chr1220924760220924925E067-11643
chr1220924968220925018E067-11550
chr1220905971220906038E068-30530
chr1220924002220924069E068-12499
chr1220924196220924295E068-12273
chr1220924566220924756E068-11812
chr1220924760220924925E068-11643
chr1220949983220950398E06813415
chr1220964957220965020E06828389
chr1220924002220924069E069-12499
chr1220924196220924295E069-12273
chr1220924566220924756E069-11812
chr1220924760220924925E069-11643
chr1220924968220925018E069-11550
chr1220925119220925171E069-11397
chr1220948707220948824E06912139
chr1220959223220959339E06922655
chr1220923190220923886E070-12682
chr1220924002220924069E070-12499
chr1220924196220924295E070-12273
chr1220924566220924756E070-11812
chr1220924760220924925E070-11643
chr1220959223220959339E07022655
chr1220961418220961855E07024850
chr1220905971220906038E071-30530
chr1220924002220924069E071-12499
chr1220924196220924295E071-12273
chr1220924566220924756E071-11812
chr1220981535220981750E07144967
chr1220949983220950398E07213415
chr1220961418220961855E07224850
chr1220964754220964899E07228186
chr1220964957220965020E07228389
chr1220906086220907026E073-29542
chr1220924002220924069E073-12499
chr1220924196220924295E073-12273
chr1220924566220924756E073-11812
chr1220924760220924925E073-11643
chr1220924968220925018E073-11550
chr1220925119220925171E073-11397
chr1220964754220964899E07328186
chr1220964957220965020E07328389
chr1220959223220959339E07422655
chr1220905971220906038E081-30530
chr1220924196220924295E081-12273
chr1220924566220924756E081-11812
chr1220924760220924925E081-11643
chr1220924968220925018E081-11550
chr1220925119220925171E081-11397
chr1220925374220925452E081-11116
chr1220949983220950398E08113415
chr1220950424220950489E08113856
chr1220959223220959339E08122655
chr1220961418220961855E08124850
chr1220964365220964585E08127797
chr1220964754220964899E08128186
chr1220964957220965020E08128389
chr1220920704220920768E082-15800
chr1220924566220924756E082-11812
chr1220924760220924925E082-11643
chr1220924968220925018E082-11550
chr1220925119220925171E082-11397
chr1220925374220925452E082-11116
chr1220958994220959094E08222426










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1220920901220922731E067-13837
chr1220959444220961072E06722876
chr1220920901220922731E068-13837
chr1220959444220961072E06822876
chr1220920901220922731E069-13837
chr1220959444220961072E06922876
chr1220920901220922731E070-13837
chr1220959444220961072E07022876
chr1220920901220922731E071-13837
chr1220959444220961072E07122876
chr1220920901220922731E072-13837
chr1220959444220961072E07222876
chr1220920901220922731E073-13837
chr1220959444220961072E07322876
chr1220920901220922731E074-13837
chr1220959444220961072E07422876
chr1220920901220922731E082-13837
chr1220959444220961072E08222876