rs12443381

Homo sapiens
G>A
ZNF592 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0047 (1411/29960,GnomAD)
A=0039 (1153/29118,TOPMED)
A=0037 (184/5008,1000G)
A=0065 (249/3854,ALSPAC)
A=0061 (228/3708,TWINSUK)
chr15:84770823 (GRCh38.p7) (15q25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
287 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.84770823G>A
GRCh37.p13 chr 15NC_000015.9:g.85314054G>A
ZNF592 RefSeqGeneNG_028094.1:g.27237G>A

Gene: ZNF592, zinc finger protein 592(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF592 transcriptNM_014630.2:c.N/AIntron Variant
ZNF592 transcript variant X2XM_005254996.3:c.N/AIntron Variant
ZNF592 transcript variant X1XM_011522246.2:c.N/AIntron Variant
ZNF592 transcript variant X3XM_011522247.2:c.N/AIntron Variant
ZNF592 transcript variant X5XM_011522248.2:c.N/AIntron Variant
ZNF592 transcript variant X4XM_017022734.1:c.N/AIntron Variant
ZNF592 transcript variant X6XR_931951.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.996A=0.004
1000GenomesAmericanSub694G=0.840A=0.160
1000GenomesEast AsianSub1008G=0.998A=0.002
1000GenomesEuropeSub1006G=0.934A=0.066
1000GenomesGlobalStudy-wide5008G=0.963A=0.037
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.935A=0.065
The Genome Aggregation DatabaseAfricanSub8722G=0.988A=0.012
The Genome Aggregation DatabaseAmericanSub838G=0.820A=0.180
The Genome Aggregation DatabaseEast AsianSub1622G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18476G=0.938A=0.061
The Genome Aggregation DatabaseGlobalStudy-wide29960G=0.952A=0.047
The Genome Aggregation DatabaseOtherSub302G=0.950A=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.960A=0.039
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.939A=0.061
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
rs124433815E-05alcoholism (heaviness of drinking)21529783

eQTL of rs12443381 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 rs12443381 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 )
chr158528818585288239E067-25815
chr158528944785289542E067-24512
chr158528966885289722E067-24332
chr158529359885293652E067-20402
chr158529368385293767E067-20287
chr158529543285295704E067-18350
chr158529574185295781E067-18273
chr158529578385295988E067-18066
chr158529600385296264E067-17790
chr158529628285296334E067-17720
chr158529649985296547E067-17507
chr158529935985299425E067-14629
chr158529948385299747E067-14307
chr158530225485302667E067-11387
chr158530351785303589E067-10465
chr158530370585303755E067-10299
chr158530378885303861E067-10193
chr158530396585304061E067-9993
chr158530414185304211E067-9843
chr158530422285304272E067-9782
chr158530459485304854E067-9200
chr158530486285305313E067-8741
chr158530531585305423E067-8631
chr158530552885305637E067-8417
chr158530566785305717E067-8337
chr158530572085305832E067-8222
chr158530593485305978E067-8076
chr158530627485306415E067-7639
chr158530646485306565E067-7489
chr158530659785306721E067-7333
chr158530673885306824E067-7230
chr158531271185312816E067-1238
chr158532881585329081E06714761
chr158532911485329263E06715060
chr158532935785329411E06715303
chr158532957285329622E06715518
chr158533040285330601E06716348
chr158533071985330924E06716665
chr158533112385331163E06717069
chr158533342485333594E06719370
chr158533362885333678E06719574
chr158533368385333799E06719629
chr158533414085334184E06720086
chr158535983285363229E06745778
chr158526813485268794E068-45260
chr158528944785289542E068-24512
chr158528966885289722E068-24332
chr158529359885293652E068-20402
chr158529368385293767E068-20287
chr158529380385294492E068-19562
chr158529454185294615E068-19439
chr158529543285295704E068-18350
chr158529574185295781E068-18273
chr158529578385295988E068-18066
chr158529600385296264E068-17790
chr158529628285296334E068-17720
chr158529649985296547E068-17507
chr158530177785301827E068-12227
chr158530214285302224E068-11830
chr158530225485302667E068-11387
chr158530351785303589E068-10465
chr158530370585303755E068-10299
chr158530378885303861E068-10193
chr158530396585304061E068-9993
chr158530414185304211E068-9843
chr158530422285304272E068-9782
chr158530459485304854E068-9200
chr158530486285305313E068-8741
chr158530531585305423E068-8631
chr158530552885305637E068-8417
chr158530566785305717E068-8337
chr158530572085305832E068-8222
chr158530593485305978E068-8076
chr158530627485306415E068-7639
chr158530646485306565E068-7489
chr158530659785306721E068-7333
chr158530673885306824E068-7230
chr158530706585307169E068-6885
chr158531271185312816E068-1238
chr158532881585329081E06814761
chr158532911485329263E06815060
chr158532935785329411E06815303
chr158532957285329622E06815518
chr158533040285330601E06816348
chr158533071985330924E06816665
chr158533112385331163E06817069
chr158533327085333320E06819216
chr158533342485333594E06819370
chr158533362885333678E06819574
chr158533368385333799E06819629
chr158535983285363229E06845778
chr158528944785289542E069-24512
chr158528966885289722E069-24332
chr158529359885293652E069-20402
chr158529368385293767E069-20287
chr158529380385294492E069-19562
chr158529454185294615E069-19439
chr158529578385295988E069-18066
chr158529600385296264E069-17790
chr158529935985299425E069-14629
chr158529948385299747E069-14307
chr158530214285302224E069-11830
chr158530225485302667E069-11387
chr158530396585304061E069-9993
chr158530414185304211E069-9843
chr158530422285304272E069-9782
chr158530459485304854E069-9200
chr158530486285305313E069-8741
chr158530627485306415E069-7639
chr158530646485306565E069-7489
chr158530659785306721E069-7333
chr158530673885306824E069-7230
chr158530706585307169E069-6885
chr158530738685307489E069-6565
chr158532680285327090E06912748
chr158532710085327343E06913046
chr158532736285327627E06913308
chr158532768985327745E06913635
chr158532819185328245E06914137
chr158532840785328533E06914353
chr158532861485328696E06914560
chr158532881585329081E06914761
chr158532911485329263E06915060
chr158532935785329411E06915303
chr158532957285329622E06915518
chr158533040285330601E06916348
chr158533071985330924E06916665
chr158533112385331163E06917069
chr158535983285363229E06945778
chr158528966885289722E070-24332
chr158529359885293652E070-20402
chr158529380385294492E070-19562
chr158529454185294615E070-19439
chr158527211885272183E071-41871
chr158527220085272293E071-41761
chr158528033385280687E071-33367
chr158528095385281067E071-32987
chr158528966885289722E071-24332
chr158529359885293652E071-20402
chr158529368385293767E071-20287
chr158529578385295988E071-18066
chr158529600385296264E071-17790
chr158529697485297551E071-16503
chr158529935985299425E071-14629
chr158529948385299747E071-14307
chr158530042985300479E071-13575
chr158530064885300698E071-13356
chr158530214285302224E071-11830
chr158530225485302667E071-11387
chr158530351785303589E071-10465
chr158530370585303755E071-10299
chr158530378885303861E071-10193
chr158530396585304061E071-9993
chr158530414185304211E071-9843
chr158530422285304272E071-9782
chr158530459485304854E071-9200
chr158530486285305313E071-8741
chr158530531585305423E071-8631
chr158530552885305637E071-8417
chr158530566785305717E071-8337
chr158530572085305832E071-8222
chr158530593485305978E071-8076
chr158530627485306415E071-7639
chr158530646485306565E071-7489
chr158530659785306721E071-7333
chr158530673885306824E071-7230
chr158530706585307169E071-6885
chr158530738685307489E071-6565
chr158531567285315726E0711618
chr158531581085315929E0711756
chr158532840785328533E07114353
chr158532911485329263E07115060
chr158532935785329411E07115303
chr158532957285329622E07115518
chr158533040285330601E07116348
chr158533071985330924E07116665
chr158533112385331163E07117069
chr158535328685353762E07139232
chr158535378885354055E07139734
chr158535983285363229E07145778
chr158536339985363462E07149345
chr158528772285287762E072-26292
chr158528818585288239E072-25815
chr158529380385294492E072-19562
chr158529454185294615E072-19439
chr158530351785303589E072-10465
chr158530370585303755E072-10299
chr158530378885303861E072-10193
chr158530396585304061E072-9993
chr158530414185304211E072-9843
chr158530422285304272E072-9782
chr158530459485304854E072-9200
chr158530486285305313E072-8741
chr158530627485306415E072-7639
chr158530646485306565E072-7489
chr158530659785306721E072-7333
chr158530673885306824E072-7230
chr158531271185312816E072-1238
chr158531918185319225E0725127
chr158531931485319354E0725260
chr158531938385319505E0725329
chr158532819185328245E07214137
chr158532840785328533E07214353
chr158532861485328696E07214560
chr158532881585329081E07214761
chr158532911485329263E07215060
chr158532935785329411E07215303
chr158532957285329622E07215518
chr158533040285330601E07216348
chr158533071985330924E07216665
chr158533112385331163E07217069
chr158533188085332044E07217826
chr158535983285363229E07245778
chr158528772285287762E073-26292
chr158528818585288239E073-25815
chr158529359885293652E073-20402
chr158529368385293767E073-20287
chr158529454185294615E073-19439
chr158529894085299289E073-14765
chr158529935985299425E073-14629
chr158529948385299747E073-14307
chr158530351785303589E073-10465
chr158530370585303755E073-10299
chr158530378885303861E073-10193
chr158530396585304061E073-9993
chr158530414185304211E073-9843
chr158530422285304272E073-9782
chr158532840785328533E07314353
chr158532881585329081E07314761
chr158532911485329263E07315060
chr158532935785329411E07315303
chr158532957285329622E07315518
chr158533040285330601E07316348
chr158533071985330924E07316665
chr158533112385331163E07317069
chr158535983285363229E07345778
chr158527964485279925E074-34129
chr158528002385280121E074-33933
chr158528033385280687E074-33367
chr158528818585288239E074-25815
chr158528966885289722E074-24332
chr158529359885293652E074-20402
chr158529368385293767E074-20287
chr158529380385294492E074-19562
chr158529454185294615E074-19439
chr158529543285295704E074-18350
chr158529574185295781E074-18273
chr158529578385295988E074-18066
chr158529600385296264E074-17790
chr158529628285296334E074-17720
chr158529649985296547E074-17507
chr158530177785301827E074-12227
chr158530214285302224E074-11830
chr158530225485302667E074-11387
chr158530351785303589E074-10465
chr158530370585303755E074-10299
chr158530378885303861E074-10193
chr158530396585304061E074-9993
chr158530414185304211E074-9843
chr158530422285304272E074-9782
chr158530459485304854E074-9200
chr158530486285305313E074-8741
chr158530627485306415E074-7639
chr158530646485306565E074-7489
chr158530659785306721E074-7333
chr158530673885306824E074-7230
chr158530706585307169E074-6885
chr158530738685307489E074-6565
chr158531271185312816E074-1238
chr158531540285315532E0741348
chr158531567285315726E0741618
chr158531982585319922E0745771
chr158532881585329081E07414761
chr158532911485329263E07415060
chr158532935785329411E07415303
chr158532957285329622E07415518
chr158533040285330601E07416348
chr158533071985330924E07416665
chr158533112385331163E07417069
chr158535328685353762E07439232
chr158535378885354055E07439734
chr158535983285363229E07445778
chr158529359885293652E081-20402
chr158529368385293767E081-20287
chr158529359885293652E082-20402
chr158529368385293767E082-20287
chr158533414085334184E08220086










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr158529048785293164E067-20890
chr158529048785293164E068-20890
chr158529048785293164E069-20890
chr158529048785293164E070-20890
chr158529048785293164E071-20890
chr158529048785293164E072-20890
chr158529048785293164E073-20890
chr158529048785293164E074-20890
chr158529048785293164E081-20890
chr158529048785293164E082-20890