rs2970911

Homo sapiens
G>A
SMYD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0353 (10597/29946,GnomAD)
A=0377 (10993/29116,TOPMED)
A=0314 (1571/5008,1000G)
A=0347 (1338/3854,ALSPAC)
A=0351 (1301/3708,TWINSUK)
chr2:88096305 (GRCh38.p7) (2p11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
95 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.88096305G>A
GRCh37.p13 chr 2NC_000002.11:g.88395824G>A

Gene: SMYD1, SET and MYND domain containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SMYD1 transcript variant 1NM_198274.3:c.N/AIntron Variant
SMYD1 transcript variant X1XM_005264156.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.576A=0.424
1000GenomesAmericanSub694G=0.740A=0.260
1000GenomesEast AsianSub1008G=0.837A=0.163
1000GenomesEuropeSub1006G=0.644A=0.356
1000GenomesGlobalStudy-wide5008G=0.686A=0.314
1000GenomesSouth AsianSub978G=0.680A=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.653A=0.347
The Genome Aggregation DatabaseAfricanSub8704G=0.588A=0.412
The Genome Aggregation DatabaseAmericanSub838G=0.700A=0.300
The Genome Aggregation DatabaseEast AsianSub1618G=0.850A=0.150
The Genome Aggregation DatabaseEuropeSub18484G=0.652A=0.347
The Genome Aggregation DatabaseGlobalStudy-wide29946G=0.646A=0.353
The Genome Aggregation DatabaseOtherSub302G=0.690A=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.622A=0.377
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.649A=0.351
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
rs29709110.000703alcohol dependence21314694

eQTL of rs2970911 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 rs2970911 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 )
chr28838151488381710E067-14114
chr28838187088381949E067-13875
chr28838198888382059E067-13765
chr28838242788382581E067-13243
chr28838515488385215E067-10609
chr28838523488385362E067-10462
chr28840006888400308E0674244
chr28841434488415139E06718520
chr28843636288436591E06740538
chr28835260188352679E068-43145
chr28835276588353273E068-42551
chr28835982988360483E068-35341
chr28836056188360676E068-35148
chr28838151488381710E068-14114
chr28838187088381949E068-13875
chr28838198888382059E068-13765
chr28838242788382581E068-13243
chr28840006888400308E0684244
chr28841434488415139E06818520
chr28843636288436591E06840538
chr28834811388348486E069-47338
chr28835260188352679E069-43145
chr28835276588353273E069-42551
chr28835982988360483E069-35341
chr28836056188360676E069-35148
chr28837672788376896E069-18928
chr28837694788377239E069-18585
chr28838151488381710E069-14114
chr28838187088381949E069-13875
chr28838198888382059E069-13765
chr28838242788382581E069-13243
chr28838478588384880E069-10944
chr28839468788394811E069-1013
chr28839488888394938E069-886
chr28839931988399916E0693495
chr28840006888400308E0694244
chr28841434488415139E06918520
chr28843636288436591E06940538
chr28834811388348486E071-47338
chr28835260188352679E071-43145
chr28835276588353273E071-42551
chr28835982988360483E071-35341
chr28838151488381710E071-14114
chr28838187088381949E071-13875
chr28838198888382059E071-13765
chr28838242788382581E071-13243
chr28839931988399916E0713495
chr28840006888400308E0714244
chr28841434488415139E07118520
chr28843420088434840E07138376
chr28843636288436591E07140538
chr28834811388348486E072-47338
chr28835982988360483E072-35341
chr28836056188360676E072-35148
chr28837672788376896E072-18928
chr28837694788377239E072-18585
chr28838151488381710E072-14114
chr28838187088381949E072-13875
chr28838198888382059E072-13765
chr28838242788382581E072-13243
chr28838478588384880E072-10944
chr28838515488385215E072-10609
chr28839468788394811E072-1013
chr28839488888394938E072-886
chr28839931988399916E0723495
chr28840006888400308E0724244
chr28843636288436591E07240538
chr28835276588353273E073-42551
chr28838151488381710E073-14114
chr28838187088381949E073-13875
chr28838198888382059E073-13765
chr28838242788382581E073-13243
chr28838478588384880E073-10944
chr28838515488385215E073-10609
chr28838523488385362E073-10462
chr28839032388390524E073-5300
chr28839056188390626E073-5198
chr28840006888400308E0734244
chr28835260188352679E074-43145
chr28835276588353273E074-42551
chr28835611688356166E074-39658
chr28835982988360483E074-35341
chr28836056188360676E074-35148
chr28838151488381710E074-14114
chr28838187088381949E074-13875
chr28838198888382059E074-13765
chr28838242788382581E074-13243
chr28838478588384880E074-10944
chr28838515488385215E074-10609
chr28838523488385362E074-10462
chr28839931988399916E0743495
chr28840006888400308E0744244
chr28841434488415139E07418520
chr28843636288436591E07440538
chr28835611688356166E081-39658








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr28835382488355998E067-39826
chr28835382488355998E068-39826
chr28835382488355998E069-39826
chr28835382488355998E070-39826
chr28835382488355998E071-39826
chr28835382488355998E072-39826
chr28835382488355998E073-39826
chr28835382488355998E074-39826
chr28835382488355998E081-39826
chr28835382488355998E082-39826