rs4238821

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0043 (1313/29976,GnomAD)
T==0061 (1803/29118,TOPMED)
T==0074 (372/5008,1000G)
T==0002 (8/3854,ALSPAC)
T==0003 (11/3708,TWINSUK)
chr16:51110424 (GRCh38.p7) (16q12.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.51110424T>C
GRCh37.p13 chr 16NC_000016.9:g.51144335T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.141C=0.859
1000GenomesAmericanSub694T=0.110C=0.890
1000GenomesEast AsianSub1008T=0.057C=0.943
1000GenomesEuropeSub1006T=0.000C=1.000
1000GenomesGlobalStudy-wide5008T=0.074C=0.926
1000GenomesSouth AsianSub978T=0.060C=0.940
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.002C=0.998
The Genome Aggregation DatabaseAfricanSub8716T=0.123C=0.877
The Genome Aggregation DatabaseAmericanSub836T=0.090C=0.910
The Genome Aggregation DatabaseEast AsianSub1620T=0.066C=0.934
The Genome Aggregation DatabaseEuropeSub18502T=0.003C=0.997
The Genome Aggregation DatabaseGlobalStudy-wide29976T=0.043C=0.956
The Genome Aggregation DatabaseOtherSub302T=0.010C=0.990
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.061C=0.938
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.003C=0.997
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
rs42388210.000951alcohol dependence24277619

eQTL of rs4238821 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 rs4238821 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 )
chr165112984251129882E067-14453
chr165112993251130074E067-14261
chr165113007551130156E067-14179
chr165113022251130296E067-14039
chr165113047451130533E067-13802
chr165113057551130746E067-13589
chr165114823151148405E0673896
chr165114842251148638E0674087
chr165115292151153095E0678586
chr165115315351153214E0678818
chr165115345451153865E0679119
chr165117511651175298E06730781
chr165117913051179262E06734795
chr165118087251181005E06736537
chr165118113451181293E06736799
chr165119088451191024E06746549
chr165119114651191244E06746811
chr165119147051191558E06747135
chr165119160651191709E06747271
chr165119391651194105E06749581
chr165112911651129177E068-15158
chr165112922151129261E068-15074
chr165112929151129378E068-14957
chr165112993251130074E068-14261
chr165113007551130156E068-14179
chr165113022251130296E068-14039
chr165114823151148405E0683896
chr165114842251148638E0684087
chr165115292151153095E0688586
chr165115315351153214E0688818
chr165115345451153865E0689119
chr165117511651175298E06830781
chr165117534251175564E06831007
chr165117558651175656E06831251
chr165117764951177739E06833314
chr165117777851177826E06833443
chr165117818951178404E06833854
chr165117854351178583E06834208
chr165117876951178819E06834434
chr165117913051179262E06834795
chr165117927851179424E06834943
chr165118087251181005E06836537
chr165118113451181293E06836799
chr165119070951190863E06846374
chr165119088451191024E06846549
chr165119114651191244E06846811
chr165119147051191558E06847135
chr165112922151129261E069-15074
chr165112929151129378E069-14957
chr165112949651129770E069-14565
chr165112984251129882E069-14453
chr165112993251130074E069-14261
chr165113007551130156E069-14179
chr165113022251130296E069-14039
chr165113047451130533E069-13802
chr165113057551130746E069-13589
chr165114693951147583E0692604
chr165114823151148405E0693896
chr165114842251148638E0694087
chr165114874551148805E0694410
chr165115292151153095E0698586
chr165115315351153214E0698818
chr165115345451153865E0699119
chr165115407451154133E0699739
chr165117165251171806E06927317
chr165117229051172366E06927955
chr165117254051172590E06928205
chr165117279451172844E06928459
chr165117309351173143E06928758
chr165117320251173252E06928867
chr165117511651175298E06930781
chr165117534251175564E06931007
chr165117645251176520E06932117
chr165117656951176669E06932234
chr165117667151176757E06932336
chr165117685651176910E06932521
chr165117694351177084E06932608
chr165117721851177294E06932883
chr165117730651177417E06932971
chr165117749451177567E06933159
chr165117764951177739E06933314
chr165117777851177826E06933443
chr165117818951178404E06933854
chr165117854351178583E06934208
chr165117876951178819E06934434
chr165117913051179262E06934795
chr165117927851179424E06934943
chr165117945751179564E06935122
chr165117965251179752E06935317
chr165117978451179867E06935449
chr165118087251181005E06936537
chr165118113451181293E06936799
chr165119070951190863E06946374
chr165119088451191024E06946549
chr165119114651191244E06946811
chr165119147051191558E06947135
chr165119160651191709E06947271
chr165119175951191878E06947424
chr165119188751191945E06947552
chr165119324751193913E06948912
chr165119391651194105E06949581
chr165110639151106431E070-37904
chr165110644051106662E070-37673
chr165110673251106869E070-37466
chr165112949651129770E070-14565
chr165112984251129882E070-14453
chr165112993251130074E070-14261
chr165113007551130156E070-14179
chr165113022251130296E070-14039
chr165113047451130533E070-13802
chr165113057551130746E070-13589
chr165114693951147583E0702604
chr165114823151148405E0703896
chr165114842251148638E0704087
chr165114874551148805E0704410
chr165116301751163341E07018682
chr165116335151163397E07019016
chr165116653751167015E07022202
chr165116703251167199E07022697
chr165116972151169802E07025386
chr165117399351174047E07029658
chr165117421151174301E07029876
chr165117440351174540E07030068
chr165117457951174639E07030244
chr165117467651174768E07030341
chr165117645251176520E07032117
chr165119391651194105E07049581
chr165112922151129261E071-15074
chr165112929151129378E071-14957
chr165113047451130533E071-13802
chr165113057551130746E071-13589
chr165114842251148638E0714087
chr165114874551148805E0714410
chr165115292151153095E0718586
chr165115315351153214E0718818
chr165115345451153865E0719119
chr165117165251171806E07127317
chr165117511651175298E07130781
chr165117534251175564E07131007
chr165117558651175656E07131251
chr165117570951175772E07131374
chr165117656951176669E07132234
chr165117667151176757E07132336
chr165117685651176910E07132521
chr165117694351177084E07132608
chr165117721851177294E07132883
chr165117730651177417E07132971
chr165117818951178404E07133854
chr165117854351178583E07134208
chr165117876951178819E07134434
chr165117913051179262E07134795
chr165117927851179424E07134943
chr165117945751179564E07135122
chr165117965251179752E07135317
chr165117978451179867E07135449
chr165119070951190863E07146374
chr165119088451191024E07146549
chr165119114651191244E07146811
chr165119147051191558E07147135
chr165119160651191709E07147271
chr165119175951191878E07147424
chr165119324751193913E07148912
chr165119391651194105E07149581
chr165112872651128832E072-15503
chr165112911651129177E072-15158
chr165112922151129261E072-15074
chr165112929151129378E072-14957
chr165113007551130156E072-14179
chr165113022251130296E072-14039
chr165113047451130533E072-13802
chr165113057551130746E072-13589
chr165114823151148405E0723896
chr165114842251148638E0724087
chr165114874551148805E0724410
chr165117656951176669E07232234
chr165117667151176757E07232336
chr165117685651176910E07232521
chr165117694351177084E07232608
chr165117721851177294E07232883
chr165117730651177417E07232971
chr165117749451177567E07233159
chr165117764951177739E07233314
chr165117777851177826E07233443
chr165117818951178404E07233854
chr165117854351178583E07234208
chr165117876951178819E07234434
chr165117913051179262E07234795
chr165119088451191024E07246549
chr165119114651191244E07246811
chr165119188751191945E07247552
chr165114823151148405E0733896
chr165114842251148638E0734087
chr165114874551148805E0734410
chr165117254051172590E07328205
chr165117279451172844E07328459
chr165112922151129261E074-15074
chr165112929151129378E074-14957
chr165113022251130296E074-14039
chr165113047451130533E074-13802
chr165113057551130746E074-13589
chr165113225351132303E074-12032
chr165114693951147583E0742604
chr165114874551148805E0744410
chr165115292151153095E0748586
chr165115315351153214E0748818
chr165115345451153865E0749119
chr165115407451154133E0749739
chr165116566551165748E07421330
chr165117093751171456E07426602
chr165117165251171806E07427317
chr165117229051172366E07427955
chr165117254051172590E07428205
chr165117279451172844E07428459
chr165117511651175298E07430781
chr165117534251175564E07431007
chr165117558651175656E07431251
chr165117656951176669E07432234
chr165117667151176757E07432336
chr165117685651176910E07432521
chr165117694351177084E07432608
chr165117721851177294E07432883
chr165117730651177417E07432971
chr165117749451177567E07433159
chr165117764951177739E07433314
chr165117777851177826E07433443
chr165117818951178404E07433854
chr165117854351178583E07434208
chr165117876951178819E07434434
chr165117913051179262E07434795
chr165117927851179424E07434943
chr165117945751179564E07435122
chr165117965251179752E07435317
chr165117978451179867E07435449
chr165117998351180756E07435648
chr165118087251181005E07436537
chr165118113451181293E07436799
chr165119088451191024E07446549
chr165119114651191244E07446811
chr165119147051191558E07447135
chr165119160651191709E07447271
chr165119175951191878E07447424
chr165119188751191945E07447552
chr165119200351192125E07447668
chr165119213351192215E07447798
chr165119324751193913E07448912
chr165119391651194105E07449581
chr165114823151148405E0813896
chr165114842251148638E0814087
chr165116274051163000E08118405
chr165116301751163341E08118682
chr165117093751171456E08126602
chr165117254051172590E08128205
chr165117876951178819E08134434
chr165117913051179262E08134795
chr165119147051191558E08147135
chr165117093751171456E08226602
chr165117165251171806E08227317
chr165117229051172366E08227955
chr165117254051172590E08228205
chr165117656951176669E08232234
chr165117667151176757E08232336










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr165114763651147954E0673301
chr165118259751182924E06738262
chr165118304751183180E06738712
chr165118329951183437E06738964
chr165118364351183828E06739308
chr165118382951188079E06739494
chr165118813351190663E06743798
chr165114763651147954E0683301
chr165116766951168006E06823334
chr165118165651181749E06837321
chr165118184551182039E06837510
chr165118204951182226E06837714
chr165118225451182378E06837919
chr165118259751182924E06838262
chr165118304751183180E06838712
chr165118329951183437E06838964
chr165118364351183828E06839308
chr165118382951188079E06839494
chr165118813351190663E06843798
chr165118204951182226E06937714
chr165118225451182378E06937919
chr165118259751182924E06938262
chr165118304751183180E06938712
chr165118329951183437E06938964
chr165118364351183828E06939308
chr165118382951188079E06939494
chr165118813351190663E06943798
chr165116766951168006E07023334
chr165118165651181749E07037321
chr165118184551182039E07037510
chr165118204951182226E07037714
chr165118225451182378E07037919
chr165118259751182924E07038262
chr165118304751183180E07038712
chr165118329951183437E07038964
chr165118364351183828E07039308
chr165118382951188079E07039494
chr165118813351190663E07043798
chr165114763651147954E0713301
chr165116766951168006E07123334
chr165118165651181749E07137321
chr165118184551182039E07137510
chr165118204951182226E07137714
chr165118225451182378E07137919
chr165118259751182924E07138262
chr165118304751183180E07138712
chr165118329951183437E07138964
chr165118364351183828E07139308
chr165118382951188079E07139494
chr165118813351190663E07143798
chr165114763651147954E0723301
chr165118184551182039E07237510
chr165118204951182226E07237714
chr165118225451182378E07237919
chr165118259751182924E07238262
chr165118304751183180E07238712
chr165118329951183437E07238964
chr165118364351183828E07239308
chr165118382951188079E07239494
chr165118813351190663E07243798
chr165114763651147954E0733301
chr165118184551182039E07337510
chr165118204951182226E07337714
chr165118225451182378E07337919
chr165118259751182924E07338262
chr165118304751183180E07338712
chr165118329951183437E07338964
chr165118364351183828E07339308
chr165118382951188079E07339494
chr165118813351190663E07343798
chr165114763651147954E0743301
chr165118165651181749E07437321
chr165118184551182039E07437510
chr165118204951182226E07437714
chr165118225451182378E07437919
chr165118259751182924E07438262
chr165118304751183180E07438712
chr165118329951183437E07438964
chr165118364351183828E07439308
chr165118382951188079E07439494
chr165118813351190663E07443798
chr165118184551182039E08137510
chr165118204951182226E08137714
chr165118225451182378E08137919
chr165118165651181749E08237321
chr165118184551182039E08237510
chr165118204951182226E08237714
chr165118225451182378E08237919
chr165118259751182924E08238262
chr165118304751183180E08238712
chr165118329951183437E08238964
chr165118364351183828E08239308
chr165118382951188079E08239494
chr165118813351190663E08243798