rs4128324

Homo sapiens
A>G
TNKS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0145 (4362/29926,GnomAD)
G=0156 (4564/29118,TOPMED)
G=0171 (856/5008,1000G)
G=0123 (475/3854,ALSPAC)
G=0119 (440/3708,TWINSUK)
chr8:9651369 (GRCh38.p7) (8p23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
181 Enhancers around
54 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.9651369A>G
GRCh37.p13 chr 8NC_000008.10:g.9508879A>G

Gene: TNKS, tankyrase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TNKS transcriptNM_003747.2:c.N/AIntron Variant
TNKS transcript variant X1XM_006716263.3:c.N/AIntron Variant
TNKS transcript variant X2XM_011543845.2:c.N/AIntron Variant
TNKS transcript variant X3XM_011543846.2:c.N/AIntron Variant
TNKS transcript variant X4XM_011543847.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.846G=0.154
1000GenomesAmericanSub694A=0.720G=0.280
1000GenomesEast AsianSub1008A=0.771G=0.229
1000GenomesEuropeSub1006A=0.899G=0.101
1000GenomesGlobalStudy-wide5008A=0.829G=0.171
1000GenomesSouth AsianSub978A=0.870G=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.877G=0.123
The Genome Aggregation DatabaseAfricanSub8704A=0.819G=0.181
The Genome Aggregation DatabaseAmericanSub836A=0.750G=0.250
The Genome Aggregation DatabaseEast AsianSub1606A=0.779G=0.221
The Genome Aggregation DatabaseEuropeSub18478A=0.881G=0.119
The Genome Aggregation DatabaseGlobalStudy-wide29926A=0.854G=0.145
The Genome Aggregation DatabaseOtherSub302A=0.910G=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.843G=0.156
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.881G=0.119
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs41283240.000985alcohol dependence24277619

eQTL of rs4128324 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 rs4128324 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 )
chr894660019466462E067-42417
chr894707159470902E067-37977
chr894711009471150E067-37729
chr894714159471484E067-37395
chr894715289472014E067-36865
chr894722229472940E067-35939
chr894729689473052E067-35827
chr894731119473227E067-35652
chr894787449478825E067-30054
chr894840949484167E067-24712
chr894841689484218E067-24661
chr894843259484758E067-24121
chr894849379485262E067-23617
chr894854519485612E067-23267
chr894857419485794E067-23085
chr894858959486361E067-22518
chr894865039486882E067-21997
chr894875819487836E067-21043
chr894879839488107E067-20772
chr894910869491551E067-17328
chr895046169504981E067-3898
chr895088699509024E0670
chr895090399509355E067160
chr894686369468797E068-40082
chr894707159470902E068-37977
chr894711009471150E068-37729
chr894714159471484E068-37395
chr894722229472940E068-35939
chr894729689473052E068-35827
chr894731119473227E068-35652
chr894740329474111E068-34768
chr894744149474592E068-34287
chr894777889477898E068-30981
chr894781239478238E068-30641
chr894783599478409E068-30470
chr894841689484218E068-24661
chr894843259484758E068-24121
chr894849379485262E068-23617
chr894854519485612E068-23267
chr894857419485794E068-23085
chr894858959486361E068-22518
chr894865039486882E068-21997
chr894910869491551E068-17328
chr894941639494312E068-14567
chr894948099494871E068-14008
chr895046169504981E068-3898
chr895055609505697E068-3182
chr895058549505957E068-2922
chr895085409508608E068-271
chr895086459508695E068-184
chr895088699509024E0680
chr895090399509355E068160
chr895229749523152E06814095
chr895232799523329E06814400
chr895234759523735E06814596
chr894660019466462E069-42417
chr894665879466647E069-42232
chr894722229472940E069-35939
chr894729689473052E069-35827
chr894731119473227E069-35652
chr894740329474111E069-34768
chr894744149474592E069-34287
chr894843259484758E069-24121
chr894849379485262E069-23617
chr894854519485612E069-23267
chr894857419485794E069-23085
chr894858959486361E069-22518
chr894865039486882E069-21997
chr895046169504981E069-3898
chr895055609505697E069-3182
chr895102019510409E0691322
chr895281809528348E06919301
chr895288329528890E06919953
chr895290479529097E06920168
chr895291319529212E06920252
chr895294659529552E06920586
chr895318179531882E06922938
chr895323449532448E06923465
chr895325239532573E06923644
chr895325999532649E06923720
chr894686369468797E070-40082
chr894714159471484E070-37395
chr894843259484758E070-24121
chr894656969465826E071-43053
chr894660019466462E071-42417
chr894665879466647E071-42232
chr894707159470902E071-37977
chr894711009471150E071-37729
chr894714159471484E071-37395
chr894715289472014E071-36865
chr894722229472940E071-35939
chr894729689473052E071-35827
chr894731119473227E071-35652
chr894777889477898E071-30981
chr894781239478238E071-30641
chr894783599478409E071-30470
chr894787449478825E071-30054
chr894843259484758E071-24121
chr894849379485262E071-23617
chr894854519485612E071-23267
chr894857419485794E071-23085
chr894858959486361E071-22518
chr894865039486882E071-21997
chr894875819487836E071-21043
chr894891909489461E071-19418
chr894941639494312E071-14567
chr895046169504981E071-3898
chr895088699509024E0710
chr895090399509355E071160
chr895108799511182E0712000
chr895115529511653E0712673
chr895232799523329E07114400
chr895234759523735E07114596
chr895249779525078E07116098
chr895251529525226E07116273
chr895342909534854E07125411
chr895512829551625E07142403
chr894707159470902E072-37977
chr894711009471150E072-37729
chr894714159471484E072-37395
chr894715289472014E072-36865
chr894722229472940E072-35939
chr894729689473052E072-35827
chr894731119473227E072-35652
chr894777889477898E072-30981
chr894781239478238E072-30641
chr894783599478409E072-30470
chr894843259484758E072-24121
chr894849379485262E072-23617
chr894854519485612E072-23267
chr894857419485794E072-23085
chr894941639494312E072-14567
chr895046169504981E072-3898
chr895055609505697E072-3182
chr895088699509024E0720
chr895090399509355E072160
chr895294659529552E07220586
chr895489039548953E07240024
chr894849379485262E073-23617
chr894854519485612E073-23267
chr894857419485794E073-23085
chr894865039486882E073-21997
chr895339479534132E07325068
chr895341729534224E07325293
chr894707159470902E074-37977
chr894711009471150E074-37729
chr894714159471484E074-37395
chr894715289472014E074-36865
chr894722229472940E074-35939
chr894729689473052E074-35827
chr894781239478238E074-30641
chr894783599478409E074-30470
chr894787449478825E074-30054
chr894843259484758E074-24121
chr894849379485262E074-23617
chr894854519485612E074-23267
chr894857419485794E074-23085
chr894858959486361E074-22518
chr894865039486882E074-21997
chr894875819487836E074-21043
chr894879839488107E074-20772
chr894891909489461E074-19418
chr894941639494312E074-14567
chr894948099494871E074-14008
chr895046169504981E074-3898
chr895055609505697E074-3182
chr895058549505957E074-2922
chr895085409508608E074-271
chr895086459508695E074-184
chr895088699509024E0740
chr895090399509355E074160
chr895115529511653E0742673
chr895281809528348E07419301
chr895288329528890E07419953
chr895342909534854E07425411
chr894729689473052E081-35827
chr894731119473227E081-35652
chr894722229472940E082-35939
chr894744149474592E082-34287
chr894854519485612E082-23267
chr894857419485794E082-23085










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr895375459537597E06728666
chr895377039537778E06728824
chr895375459537597E06828666
chr895377039537778E06828824
chr895382219538275E06829342
chr895383349538598E06829455
chr895386989538752E06829819
chr895389419538991E06830062
chr895394789539538E06830599
chr895396039539653E06830724
chr895397159539851E06830836
chr895375459537597E06928666
chr895377039537778E06928824
chr895382219538275E06929342
chr895383349538598E06929455
chr895386989538752E06929819
chr895375459537597E07028666
chr895377039537778E07028824
chr895382219538275E07029342
chr895383349538598E07029455
chr895386989538752E07029819
chr895375459537597E07128666
chr895377039537778E07128824
chr895382219538275E07129342
chr895383349538598E07129455
chr895375459537597E07228666
chr895383349538598E07229455
chr895386989538752E07229819
chr895389419538991E07230062
chr895394789539538E07230599
chr895396039539653E07230724
chr895397159539851E07230836
chr895398869539946E07231007
chr895375459537597E07328666
chr895377039537778E07328824
chr895382219538275E07329342
chr895383349538598E07329455
chr895386989538752E07329819
chr895375459537597E07428666
chr895375459537597E08128666
chr895377039537778E08128824
chr895382219538275E08129342
chr895383349538598E08129455
chr895386989538752E08129819
chr895375459537597E08228666
chr895377039537778E08228824
chr895382219538275E08229342
chr895383349538598E08229455
chr895386989538752E08229819
chr895389419538991E08230062
chr895394789539538E08230599
chr895396039539653E08230724
chr895397159539851E08230836
chr895398869539946E08231007