rs10779415

Homo sapiens
C>T
MARC2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0301 (9020/29934,GnomAD)
T=0323 (9432/29116,TOPMED)
T=0412 (2064/5008,1000G)
T=0173 (668/3854,ALSPAC)
T=0191 (710/3708,TWINSUK)
chr1:220762466 (GRCh38.p7) (1q41)
AD
GWASdb2
1   publication(s)
See rs on genome
68 Enhancers around
18 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.220762466C>T
GRCh37.p13 chr 1NC_000001.10:g.220935808C>T

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
1000GenomesAfricanSub1322C=0.589T=0.411
1000GenomesAmericanSub694C=0.600T=0.400
1000GenomesEast AsianSub1008C=0.312T=0.688
1000GenomesEuropeSub1006C=0.791T=0.209
1000GenomesGlobalStudy-wide5008C=0.588T=0.412
1000GenomesSouth AsianSub978C=0.650T=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.827T=0.173
The Genome Aggregation DatabaseAfricanSub8704C=0.608T=0.392
The Genome Aggregation DatabaseAmericanSub836C=0.610T=0.390
The Genome Aggregation DatabaseEast AsianSub1616C=0.298T=0.702
The Genome Aggregation DatabaseEuropeSub18476C=0.780T=0.220
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.698T=0.301
The Genome Aggregation DatabaseOtherSub302C=0.720T=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.676T=0.323
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.809T=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
rs107794150.000831alcohol dependence20201924

eQTL of rs10779415 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:2209358083/2/2018 12:00:00 AMENSG00000117791.11C>T5.6644e-514241Cerebellum

meQTL of rs10779415 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 )
chr1220905971220906038E067-29770
chr1220906086220907026E067-28782
chr1220924196220924295E067-11513
chr1220924566220924756E067-11052
chr1220924760220924925E067-10883
chr1220924968220925018E067-10790
chr1220905971220906038E068-29770
chr1220924002220924069E068-11739
chr1220924196220924295E068-11513
chr1220924566220924756E068-11052
chr1220924760220924925E068-10883
chr1220949983220950398E06814175
chr1220964957220965020E06829149
chr1220924002220924069E069-11739
chr1220924196220924295E069-11513
chr1220924566220924756E069-11052
chr1220924760220924925E069-10883
chr1220924968220925018E069-10790
chr1220925119220925171E069-10637
chr1220948707220948824E06912899
chr1220959223220959339E06923415
chr1220923190220923886E070-11922
chr1220924002220924069E070-11739
chr1220924196220924295E070-11513
chr1220924566220924756E070-11052
chr1220924760220924925E070-10883
chr1220959223220959339E07023415
chr1220961418220961855E07025610
chr1220905971220906038E071-29770
chr1220924002220924069E071-11739
chr1220924196220924295E071-11513
chr1220924566220924756E071-11052
chr1220981535220981750E07145727
chr1220949983220950398E07214175
chr1220961418220961855E07225610
chr1220964754220964899E07228946
chr1220964957220965020E07229149
chr1220906086220907026E073-28782
chr1220924002220924069E073-11739
chr1220924196220924295E073-11513
chr1220924566220924756E073-11052
chr1220924760220924925E073-10883
chr1220924968220925018E073-10790
chr1220925119220925171E073-10637
chr1220964754220964899E07328946
chr1220964957220965020E07329149
chr1220959223220959339E07423415
chr1220905971220906038E081-29770
chr1220924196220924295E081-11513
chr1220924566220924756E081-11052
chr1220924760220924925E081-10883
chr1220924968220925018E081-10790
chr1220925119220925171E081-10637
chr1220925374220925452E081-10356
chr1220949983220950398E08114175
chr1220950424220950489E08114616
chr1220959223220959339E08123415
chr1220961418220961855E08125610
chr1220964365220964585E08128557
chr1220964754220964899E08128946
chr1220964957220965020E08129149
chr1220920704220920768E082-15040
chr1220924566220924756E082-11052
chr1220924760220924925E082-10883
chr1220924968220925018E082-10790
chr1220925119220925171E082-10637
chr1220925374220925452E082-10356
chr1220958994220959094E08223186










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1220920901220922731E067-13077
chr1220959444220961072E06723636
chr1220920901220922731E068-13077
chr1220959444220961072E06823636
chr1220920901220922731E069-13077
chr1220959444220961072E06923636
chr1220920901220922731E070-13077
chr1220959444220961072E07023636
chr1220920901220922731E071-13077
chr1220959444220961072E07123636
chr1220920901220922731E072-13077
chr1220959444220961072E07223636
chr1220920901220922731E073-13077
chr1220959444220961072E07323636
chr1220920901220922731E074-13077
chr1220959444220961072E07423636
chr1220920901220922731E082-13077
chr1220959444220961072E08223636