rs7526063

Homo sapiens
C>T
MTR : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0040 (4865/121308,ExAC)
T=0052 (1574/29982,GnomAD)
T=0069 (2015/29116,TOPMED)
C==0055 (724/13006,GO-ESP)
T=0074 (373/5008,1000G)
T=0015 (59/3854,ALSPAC)
T=0018 (68/3708,TWINSUK)
chr1:236808698 (GRCh38.p7) (1q43)
ND
GWASdb2
2   publication(s)
See rs on genome
10 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.236808698C>T
GRCh37.p13 chr 1NC_000001.10:g.236971998C>T
MTR RefSeqGeneNG_008959.1:g.18418C>T

Gene: MTR, 5-methyltetrahydrofolate-homocysteine methyltransferase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MTR transcript variant 1NM_000254.2:c.N/AIntron Variant
MTR transcript variant 2NM_001291939.1:c.N/AIntron Variant
MTR transcript variant 3NM_001291940.1:c.N/AIntron Variant
MTR transcript variant X3XM_005273141.4:c.N/AIntron Variant
MTR transcript variant X1XM_011544194.2:c.N/AIntron Variant
MTR transcript variant X2XM_017001329.1:c.N/AIntron Variant
MTR transcript variant X4XM_017001330.1:c.N/AIntron Variant
MTR transcript variant X5XM_006711770.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.864T=0.136
1000GenomesAmericanSub694C=0.960T=0.040
1000GenomesEast AsianSub1008C=0.946T=0.054
1000GenomesEuropeSub1006C=0.974T=0.026
1000GenomesGlobalStudy-wide5008C=0.926T=0.074
1000GenomesSouth AsianSub978C=0.910T=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.985T=0.015
The Exome Aggregation ConsortiumAmericanSub21928C=0.921T=0.078
The Exome Aggregation ConsortiumAsianSub25160C=0.933T=0.066
The Exome Aggregation ConsortiumEuropeSub73312C=0.980T=0.019
The Exome Aggregation ConsortiumGlobalStudy-wide121308C=0.959T=0.040
The Exome Aggregation ConsortiumOtherSub908C=0.960T=0.040
The Genome Aggregation DatabaseAfricanSub8728C=0.877T=0.123
The Genome Aggregation DatabaseAmericanSub838C=0.970T=0.030
The Genome Aggregation DatabaseEast AsianSub1620C=0.944T=0.056
The Genome Aggregation DatabaseEuropeSub18494C=0.979T=0.020
The Genome Aggregation DatabaseGlobalStudy-wide29982C=0.947T=0.052
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.930T=0.069
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.982T=0.018
PMID Title Author Journal
21629268Folate and related micronutrients, folate-metabolising genes and risk of ovarian cancer.Webb PMEur J Clin Nutr
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs75260634.42E-06alcohol and nictotine co-dependence20158304

eQTL of rs7526063 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 rs7526063 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 )
chr1236969450236969646E069-2352
chr1236922643236922969E072-49029
chr1236993922236994123E07221924
chr1236993922236994123E07421924
chr1236971431236971645E081-353
chr1236971777236971821E081-177
chr1236971906236972916E0810
chr1236971431236971645E082-353
chr1236971777236971821E082-177
chr1236971906236972916E0820





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1236958005236959980E067-12018
chr1236958005236959980E068-12018
chr1236958005236959980E069-12018
chr1236958005236959980E070-12018
chr1236958005236959980E071-12018
chr1236958005236959980E072-12018
chr1236958005236959980E073-12018
chr1236958005236959980E074-12018
chr1236958005236959980E081-12018
chr1236958005236959980E082-12018