rs4751115

Homo sapiens
T>C
MGMT : Intron Variant
LOC105378560 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0438 (13119/29932,GnomAD)
T==0412 (12015/29118,TOPMED)
T==0389 (1950/5008,1000G)
C=0470 (1812/3854,ALSPAC)
C=0471 (1746/3708,TWINSUK)
chr10:129712029 (GRCh38.p7) (10q26.3)
AD
GWASdb2
2   publication(s)
See rs on genome
49 Enhancers around
4 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.129712029T>C
GRCh37.p13 chr 10NC_000010.10:g.131510293T>C

Gene: MGMT, O-6-methylguanine-DNA methyltransferase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MGMT transcriptNM_002412.4:c.N/AIntron Variant
MGMT transcript variant X1XM_005252682.2:c.N/AIntron Variant
MGMT transcript variant X2XM_017016275.1:c.N/AIntron Variant

Gene: LOC105378560, uncharacterized LOC105378560(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105378560 transcriptXR_946467.2:n.398...XR_946467.2:n.3980T>CT>CNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.247C=0.753
1000GenomesAmericanSub694T=0.470C=0.530
1000GenomesEast AsianSub1008T=0.351C=0.649
1000GenomesEuropeSub1006T=0.504C=0.496
1000GenomesGlobalStudy-wide5008T=0.389C=0.611
1000GenomesSouth AsianSub978T=0.440C=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.530C=0.470
The Genome Aggregation DatabaseAfricanSub8708T=0.262C=0.738
The Genome Aggregation DatabaseAmericanSub838T=0.460C=0.540
The Genome Aggregation DatabaseEast AsianSub1618T=0.367C=0.633
The Genome Aggregation DatabaseEuropeSub18466T=0.525C=0.474
The Genome Aggregation DatabaseGlobalStudy-wide29932T=0.438C=0.561
The Genome Aggregation DatabaseOtherSub302T=0.520C=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.412C=0.587
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.529C=0.471
PMID Title Author Journal
20128036DNA polymorphism and risk of esophageal squamous cell carcinoma in a population of North Xinjiang, China.Ma WJWorld J Gastroenterol
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
rs47511150.000486alcohol dependence21314694

eQTL of rs4751115 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 rs4751115 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 )
chr10131505956131506131E067-4162
chr10131476445131476485E068-33808
chr10131488981131489316E068-20977
chr10131489356131489468E068-20825
chr10131489587131489706E068-20587
chr10131556843131557203E06846550
chr10131557253131557308E06846960
chr10131557507131557717E06847214
chr10131505956131506131E069-4162
chr10131475894131475947E070-34346
chr10131476193131476260E070-34033
chr10131476311131476371E070-33922
chr10131476445131476485E070-33808
chr10131476602131476713E070-33580
chr10131483565131483654E070-26639
chr10131483963131484013E070-26280
chr10131506207131506909E070-3384
chr10131515077131515133E0704784
chr10131556457131556539E07046164
chr10131556843131557203E07046550
chr10131557253131557308E07046960
chr10131557507131557717E07047214
chr10131557974131558093E07047681
chr10131558109131558163E07047816
chr10131488981131489316E071-20977
chr10131489356131489468E071-20825
chr10131489587131489706E071-20587
chr10131506207131506909E071-3384
chr10131557253131557308E07146960
chr10131505956131506131E072-4162
chr10131506207131506909E072-3384
chr10131492335131492754E073-17539
chr10131557253131557308E07346960
chr10131492335131492754E074-17539
chr10131503488131503668E081-6625
chr10131503794131503926E081-6367
chr10131506207131506909E081-3384
chr10131556457131556539E08146164
chr10131556843131557203E08146550
chr10131557253131557308E08146960
chr10131557507131557717E08147214
chr10131557974131558093E08147681
chr10131558109131558163E08147816
chr10131506207131506909E082-3384
chr10131556457131556539E08246164
chr10131556843131557203E08246550
chr10131557253131557308E08246960
chr10131557507131557717E08247214
chr10131557974131558093E08247681










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10131555285131556088E06844992
chr10131555285131556088E06944992
chr10131555285131556088E07144992
chr10131555285131556088E07244992