rs11118607

Homo sapiens
C>T
MARC1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0199 (5977/29954,GnomAD)
T=0229 (6689/29116,TOPMED)
T=0176 (880/5008,1000G)
T=0148 (572/3854,ALSPAC)
T=0164 (608/3708,TWINSUK)
chr1:220811022 (GRCh38.p7) (1q41)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.220811022C>T
GRCh37.p13 chr 1NC_000001.10:g.220984364C>T

Gene: MARC1, mitochondrial amidoxime reducing component 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MARC1 transcriptNM_022746.3:c.N/AIntron Variant
MARC1 transcript variant X1XM_011509900.2:c.N/AIntron Variant
MARC1 transcript variant X4XM_011509903.2:c.N/AIntron Variant
MARC1 transcript variant X6XM_011509904.2:c.N/AIntron Variant
MARC1 transcript variant X5XM_017002096.1:c.N/AIntron Variant
MARC1 transcript variant X7XM_017002097.1:c.N/AIntron Variant
MARC1 transcript variant X3XR_001737362.1:n.N/AGenic Downstream Transcript Variant
MARC1 transcript variant X2XR_921908.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.687T=0.313
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.849T=0.151
1000GenomesEuropeSub1006C=0.840T=0.160
1000GenomesGlobalStudy-wide5008C=0.824T=0.176
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.852T=0.148
The Genome Aggregation DatabaseAfricanSub8712C=0.699T=0.301
The Genome Aggregation DatabaseAmericanSub838C=0.880T=0.120
The Genome Aggregation DatabaseEast AsianSub1622C=0.867T=0.133
The Genome Aggregation DatabaseEuropeSub18480C=0.839T=0.160
The Genome Aggregation DatabaseGlobalStudy-wide29954C=0.800T=0.199
The Genome Aggregation DatabaseOtherSub302C=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.770T=0.229
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.836T=0.164
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs111186070.000285alcohol dependence21314694

eQTL of rs11118607 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 rs11118607 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 )
chr1220949983220950398E068-33966
chr1220964957220965020E068-19344
chr1220948707220948824E069-35540
chr1220959223220959339E069-25025
chr1220959223220959339E070-25025
chr1220961418220961855E070-22509
chr1220981535220981750E071-2614
chr1220949983220950398E072-33966
chr1220961418220961855E072-22509
chr1220964754220964899E072-19465
chr1220964957220965020E072-19344
chr1220964754220964899E073-19465
chr1220964957220965020E073-19344
chr1220959223220959339E074-25025
chr1220949983220950398E081-33966
chr1220950424220950489E081-33875
chr1220959223220959339E081-25025
chr1220961418220961855E081-22509
chr1220964365220964585E081-19779
chr1220964754220964899E081-19465
chr1220964957220965020E081-19344
chr1220958994220959094E082-25270









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1220959444220961072E067-23292
chr1220959444220961072E068-23292
chr1220959444220961072E069-23292
chr1220959444220961072E070-23292
chr1220959444220961072E071-23292
chr1220959444220961072E072-23292
chr1220959444220961072E073-23292
chr1220959444220961072E074-23292
chr1220959444220961072E082-23292