rs2241312

Homo sapiens
A>G
TATDN2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0248 (7450/29936,GnomAD)
G=0227 (6631/29118,TOPMED)
G=0228 (1140/5008,1000G)
G=0311 (1200/3854,ALSPAC)
G=0316 (1171/3708,TWINSUK)
chr3:10259616 (GRCh38.p7) (3p25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
52 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.10259616A>G
GRCh37.p13 chr 3NC_000003.11:g.10301300A>G

Gene: TATDN2, TatD DNase domain containing 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TATDN2 transcriptNM_014760.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.912G=0.088
1000GenomesAmericanSub694A=0.810G=0.190
1000GenomesEast AsianSub1008A=0.725G=0.275
1000GenomesEuropeSub1006A=0.656G=0.344
1000GenomesGlobalStudy-wide5008A=0.772G=0.228
1000GenomesSouth AsianSub978A=0.730G=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.689G=0.311
The Genome Aggregation DatabaseAfricanSub8724A=0.886G=0.114
The Genome Aggregation DatabaseAmericanSub836A=0.810G=0.190
The Genome Aggregation DatabaseEast AsianSub1612A=0.738G=0.262
The Genome Aggregation DatabaseEuropeSub18462A=0.687G=0.312
The Genome Aggregation DatabaseGlobalStudy-wide29936A=0.751G=0.248
The Genome Aggregation DatabaseOtherSub302A=0.620G=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.772G=0.227
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.684G=0.316
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
rs22413120.000357alcohol dependence21314694

eQTL of rs2241312 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:10301300GHRLOSENSG00000240288.3A>G8.6694e-6-27798Caudate_basal_ganglia

meQTL of rs2241312 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 )
chr31026647310267270E067-34030
chr31031482410314874E06713524
chr31031553810315630E06714238
chr31032620310326594E06724903
chr31032673410326985E06725434
chr31032748610327538E06726186
chr31032761210327719E06726312
chr31032780110327855E06726501
chr31032795910328053E06726659
chr31032844610328502E06727146
chr31032850310328613E06727203
chr31032863110328929E06727331
chr31034143910341673E06740139
chr31034197310342023E06740673
chr31034219110342248E06740891
chr31034237410342424E06741074
chr31026647310267270E068-34030
chr31031482410314874E06813524
chr31031553810315630E06814238
chr31032863110328929E06827331
chr31032901210329100E06827712
chr31032968310329743E06828383
chr31032990810329948E06828608
chr31026647310267270E069-34030
chr31031482410314874E06913524
chr31031553810315630E06914238
chr31031576710315876E06914467
chr31032863110328929E06927331
chr31032901210329100E06927712
chr31026647310267270E072-34030
chr31031482410314874E07213524
chr31031553810315630E07214238
chr31031576710315876E07214467
chr31032673410326985E07225434
chr31032850310328613E07227203
chr31032863110328929E07227331
chr31032901210329100E07227712
chr31026647310267270E073-34030
chr31029554510295673E073-5627
chr31029570510295746E073-5554
chr31029574910295803E073-5497
chr31031482410314874E07313524
chr31032673410326985E07325434
chr31032844610328502E07327146
chr31032850310328613E07327203
chr31032863110328929E07327331
chr31032901210329100E07327712
chr31026647310267270E074-34030
chr31031482410314874E07413524
chr31031553810315630E07414238
chr31031576710315876E07414467
chr31031633610316652E07415036






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr31028949010291787E067-9513
chr31028949010291787E068-9513
chr31028949010291787E069-9513
chr31028949010291787E070-9513
chr31028949010291787E071-9513
chr31028949010291787E072-9513
chr31028949010291787E073-9513
chr31028949010291787E074-9513
chr31028949010291787E081-9513
chr31028949010291787E082-9513