rs3769769

Homo sapiens
C>T
METTL5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0404 (12116/29934,GnomAD)
C==0444 (12932/29118,TOPMED)
C==0472 (2365/5008,1000G)
C==0334 (1286/3854,ALSPAC)
C==0336 (1246/3708,TWINSUK)
chr2:169819255 (GRCh38.p7) (2q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
88 Enhancers around
35 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.169819255C>T
GRCh37.p13 chr 2NC_000002.11:g.170675765C>T

Gene: METTL5, methyltransferase like 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
METTL5 transcript variant 2NM_001293186.1:c.N/AIntron Variant
METTL5 transcript variant 3NM_001293187.1:c.N/AIntron Variant
METTL5 transcript variant 1NM_014168.3:c.N/AIntron Variant
METTL5 transcript variant X1XM_011511023.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.597T=0.403
1000GenomesAmericanSub694C=0.290T=0.710
1000GenomesEast AsianSub1008C=0.552T=0.448
1000GenomesEuropeSub1006C=0.323T=0.677
1000GenomesGlobalStudy-wide5008C=0.472T=0.528
1000GenomesSouth AsianSub978C=0.500T=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.334T=0.666
The Genome Aggregation DatabaseAfricanSub8704C=0.575T=0.425
The Genome Aggregation DatabaseAmericanSub838C=0.290T=0.710
The Genome Aggregation DatabaseEast AsianSub1616C=0.515T=0.485
The Genome Aggregation DatabaseEuropeSub18474C=0.319T=0.680
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.404T=0.595
The Genome Aggregation DatabaseOtherSub302C=0.430T=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.444T=0.555
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.336T=0.664
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs37697699.8E-06alcoholism (heaviness of drinking)21529783

eQTL of rs3769769 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 rs3769769 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 )
chr2170680236170680288E0674471
chr2170687045170687113E06711280
chr2170687907170688273E06712142
chr2170696224170696552E06720459
chr2170696596170696924E06720831
chr2170697017170697215E06721252
chr2170697245170697295E06721480
chr2170704248170704340E06728483
chr2170687045170687113E06811280
chr2170687907170688273E06812142
chr2170694974170695229E06819209
chr2170695288170695587E06819523
chr2170696224170696552E06820459
chr2170696596170696924E06820831
chr2170697017170697215E06821252
chr2170697245170697295E06821480
chr2170697431170697481E06821666
chr2170705639170705750E06829874
chr2170706181170706235E06830416
chr2170706371170706462E06830606
chr2170725061170725334E06849296
chr2170657102170657185E069-18580
chr2170679721170679837E0693956
chr2170680236170680288E0694471
chr2170687045170687113E06911280
chr2170687907170688273E06912142
chr2170696224170696552E06920459
chr2170696596170696924E06920831
chr2170697017170697215E06921252
chr2170697245170697295E06921480
chr2170697431170697481E06921666
chr2170704248170704340E06928483
chr2170705639170705750E06929874
chr2170706181170706235E06930416
chr2170706371170706462E06930606
chr2170657102170657185E070-18580
chr2170659018170659058E070-16707
chr2170674560170674676E070-1089
chr2170674869170675042E070-723
chr2170696596170696924E07020831
chr2170679721170679837E0713956
chr2170680236170680288E0714471
chr2170687907170688273E07112142
chr2170694974170695229E07119209
chr2170695288170695587E07119523
chr2170696224170696552E07120459
chr2170696596170696924E07120831
chr2170697017170697215E07121252
chr2170697245170697295E07121480
chr2170697431170697481E07121666
chr2170704248170704340E07128483
chr2170705639170705750E07129874
chr2170706181170706235E07130416
chr2170706371170706462E07130606
chr2170725061170725334E07149296
chr2170679721170679837E0723956
chr2170680236170680288E0724471
chr2170687045170687113E07211280
chr2170687907170688273E07212142
chr2170694974170695229E07219209
chr2170695288170695587E07219523
chr2170696224170696552E07220459
chr2170696596170696924E07220831
chr2170697017170697215E07221252
chr2170697245170697295E07221480
chr2170697431170697481E07221666
chr2170705639170705750E07229874
chr2170706181170706235E07230416
chr2170706371170706462E07230606
chr2170654252170654463E073-21302
chr2170654485170654583E073-21182
chr2170679721170679837E0733956
chr2170680236170680288E0734471
chr2170696224170696552E07320459
chr2170696596170696924E07320831
chr2170679721170679837E0743956
chr2170680236170680288E0744471
chr2170687907170688273E07412142
chr2170696224170696552E07420459
chr2170696596170696924E07420831
chr2170697017170697215E07421252
chr2170697245170697295E07421480
chr2170697431170697481E07421666
chr2170704248170704340E07428483
chr2170705639170705750E07429874
chr2170706181170706235E07430416
chr2170706371170706462E07430606
chr2170657102170657185E081-18580









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2170654742170654853E067-20912
chr2170654892170656618E067-19147
chr2170680665170681847E0674900
chr2170683586170685463E0677821
chr2170654742170654853E068-20912
chr2170654892170656618E068-19147
chr2170680665170681847E0684900
chr2170683586170685463E0687821
chr2170654742170654853E069-20912
chr2170654892170656618E069-19147
chr2170680665170681847E0694900
chr2170683586170685463E0697821
chr2170654892170656618E070-19147
chr2170680665170681847E0704900
chr2170683586170685463E0707821
chr2170654742170654853E071-20912
chr2170654892170656618E071-19147
chr2170680665170681847E0714900
chr2170683586170685463E0717821
chr2170654892170656618E072-19147
chr2170680665170681847E0724900
chr2170683586170685463E0727821
chr2170654892170656618E073-19147
chr2170680665170681847E0734900
chr2170683586170685463E0737821
chr2170654892170656618E074-19147
chr2170680665170681847E0744900
chr2170683586170685463E0747821
chr2170654892170656618E081-19147
chr2170680665170681847E0814900
chr2170683586170685463E0817821
chr2170654742170654853E082-20912
chr2170654892170656618E082-19147
chr2170680665170681847E0824900
chr2170683586170685463E0827821