rs7765567

Homo sapiens
A>G
PDE7B : Intron Variant
LOC644135 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0477 (14285/29892,GnomAD)
G=0486 (14157/29118,TOPMED)
G=0489 (2447/5008,1000G)
G=0387 (1490/3854,ALSPAC)
G=0398 (1476/3708,TWINSUK)
chr6:136075736 (GRCh38.p7) (6q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
109 Enhancers around
75 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.136075736A>G
GRCh37.p13 chr 6NC_000006.11:g.136396874A>G
PDE7B RefSeqGeneNG_011994.1:g.229041A>G

Gene: PDE7B, phosphodiesterase 7B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PDE7B transcriptNM_018945.3:c.N/AIntron Variant
PDE7B transcript variant X1XM_005266931.3:c.N/AIntron Variant
PDE7B transcript variant X2XM_011535755.2:c.N/AIntron Variant
PDE7B transcript variant X3XM_017010741.1:c.N/AGenic Upstream Transcript Variant

Gene: LOC644135, uncharacterized LOC644135(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC644135 transcript variant X1XR_001744369.1:n.N/AIntron Variant
LOC644135 transcript variant X2XR_001744370.1:n.N/AIntron Variant
LOC644135 transcript variant X3XR_001744371.1:n.N/AIntron Variant
LOC644135 transcript variant X4XR_001744372.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.383G=0.617
1000GenomesAmericanSub694A=0.580G=0.420
1000GenomesEast AsianSub1008A=0.578G=0.422
1000GenomesEuropeSub1006A=0.605G=0.395
1000GenomesGlobalStudy-wide5008A=0.511G=0.489
1000GenomesSouth AsianSub978A=0.470G=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.613G=0.387
The Genome Aggregation DatabaseAfricanSub8704A=0.408G=0.592
The Genome Aggregation DatabaseAmericanSub838A=0.570G=0.430
The Genome Aggregation DatabaseEast AsianSub1610A=0.618G=0.382
The Genome Aggregation DatabaseEuropeSub18438A=0.563G=0.436
The Genome Aggregation DatabaseGlobalStudy-wide29892A=0.522G=0.477
The Genome Aggregation DatabaseOtherSub302A=0.650G=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.513G=0.486
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.602G=0.398
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
rs77655670.000449alcohol dependence24277619

eQTL of rs7765567 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 rs7765567 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 )
chr6136358391136358628E067-38246
chr6136406918136407173E06710044
chr6136424206136425535E06727332
chr6136353760136353829E068-43045
chr6136356544136357006E068-39868
chr6136357031136357184E068-39690
chr6136357803136358218E068-38656
chr6136365075136365158E068-31716
chr6136372076136372196E068-24678
chr6136372308136372622E068-24252
chr6136372669136372823E068-24051
chr6136376917136376977E068-19897
chr6136377003136377053E068-19821
chr6136380295136380476E068-16398
chr6136380571136380736E068-16138
chr6136380766136380869E068-16005
chr6136406918136407173E06810044
chr6136424206136425535E06827332
chr6136425579136425689E06828705
chr6136425925136425985E06829051
chr6136428699136428785E06831825
chr6136429344136429404E06832470
chr6136430016136430171E06833142
chr6136430246136430459E06833372
chr6136434863136435387E06837989
chr6136435553136435650E06838679
chr6136435757136436144E06838883
chr6136347047136347140E069-49734
chr6136357803136358218E069-38656
chr6136358270136358320E069-38554
chr6136358391136358628E069-38246
chr6136380295136380476E069-16398
chr6136380571136380736E069-16138
chr6136380766136380869E069-16005
chr6136424206136425535E06927332
chr6136429344136429404E06932470
chr6136429778136429931E06932904
chr6136434621136434802E06937747
chr6136434863136435387E06937989
chr6136380295136380476E070-16398
chr6136380571136380736E070-16138
chr6136380766136380869E070-16005
chr6136381333136381497E070-15377
chr6136406918136407173E07010044
chr6136424206136425535E07027332
chr6136425579136425689E07028705
chr6136429778136429931E07032904
chr6136432614136432722E07035740
chr6136432833136432883E07035959
chr6136433249136433346E07036375
chr6136433690136433885E07036816
chr6136434153136434203E07037279
chr6136434301136434351E07037427
chr6136435553136435650E07038679
chr6136435757136436144E07038883
chr6136357803136358218E071-38656
chr6136380295136380476E071-16398
chr6136380571136380736E071-16138
chr6136380766136380869E071-16005
chr6136424206136425535E07127332
chr6136428699136428785E07131825
chr6136429344136429404E07132470
chr6136429778136429931E07132904
chr6136347047136347140E072-49734
chr6136380571136380736E072-16138
chr6136380766136380869E072-16005
chr6136406918136407173E07210044
chr6136424206136425535E07227332
chr6136429778136429931E07232904
chr6136357803136358218E073-38656
chr6136358270136358320E073-38554
chr6136358391136358628E073-38246
chr6136380150136380225E073-16649
chr6136380295136380476E073-16398
chr6136380571136380736E073-16138
chr6136380766136380869E073-16005
chr6136424206136425535E07327332
chr6136425579136425689E07328705
chr6136425925136425985E07329051
chr6136434621136434802E07337747
chr6136434863136435387E07337989
chr6136435553136435650E07338679
chr6136435757136436144E07338883
chr6136358270136358320E074-38554
chr6136358391136358628E074-38246
chr6136380150136380225E074-16649
chr6136380295136380476E074-16398
chr6136380571136380736E074-16138
chr6136380766136380869E074-16005
chr6136406918136407173E07410044
chr6136425925136425985E07429051
chr6136429778136429931E07432904
chr6136380150136380225E081-16649
chr6136380295136380476E081-16398
chr6136380571136380736E081-16138
chr6136380766136380869E081-16005
chr6136424206136425535E08127332
chr6136425579136425689E08128705
chr6136434621136434802E08137747
chr6136434863136435387E08137989
chr6136435553136435650E08138679
chr6136435757136436144E08138883
chr6136380150136380225E082-16649
chr6136380295136380476E082-16398
chr6136380571136380736E082-16138
chr6136380766136380869E082-16005
chr6136382989136383106E082-13768
chr6136434621136434802E08237747
chr6136434863136435387E08237989










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6136359778136359828E067-37046
chr6136359928136359972E067-36902
chr6136360258136360302E067-36572
chr6136407758136407865E06710884
chr6136407923136408126E06711049
chr6136408127136408243E06711253
chr6136408329136408397E06711455
chr6136359778136359828E068-37046
chr6136359928136359972E068-36902
chr6136360258136360302E068-36572
chr6136360362136360420E068-36454
chr6136360490136360622E068-36252
chr6136361261136361321E068-35553
chr6136361437136361506E068-35368
chr6136361645136361747E068-35127
chr6136362755136362823E068-34051
chr6136407758136407865E06810884
chr6136407923136408126E06811049
chr6136408127136408243E06811253
chr6136408329136408397E06811455
chr6136359778136359828E069-37046
chr6136359928136359972E069-36902
chr6136360258136360302E069-36572
chr6136360362136360420E069-36454
chr6136407758136407865E06910884
chr6136407923136408126E06911049
chr6136408127136408243E06911253
chr6136359778136359828E070-37046
chr6136359928136359972E070-36902
chr6136360258136360302E070-36572
chr6136360362136360420E070-36454
chr6136360490136360622E070-36252
chr6136361261136361321E070-35553
chr6136361437136361506E070-35368
chr6136359778136359828E071-37046
chr6136359928136359972E071-36902
chr6136360258136360302E071-36572
chr6136360362136360420E071-36454
chr6136360490136360622E071-36252
chr6136361261136361321E071-35553
chr6136361437136361506E071-35368
chr6136361645136361747E071-35127
chr6136407758136407865E07110884
chr6136407923136408126E07111049
chr6136408127136408243E07111253
chr6136408329136408397E07111455
chr6136359778136359828E072-37046
chr6136359928136359972E072-36902
chr6136360258136360302E072-36572
chr6136360362136360420E072-36454
chr6136360490136360622E072-36252
chr6136407758136407865E07210884
chr6136407923136408126E07211049
chr6136408127136408243E07211253
chr6136408329136408397E07211455
chr6136359778136359828E073-37046
chr6136359928136359972E073-36902
chr6136360258136360302E073-36572
chr6136360362136360420E073-36454
chr6136360490136360622E073-36252
chr6136361437136361506E073-35368
chr6136361645136361747E073-35127
chr6136407758136407865E07310884
chr6136407923136408126E07311049
chr6136408127136408243E07311253
chr6136359778136359828E074-37046
chr6136359928136359972E074-36902
chr6136360258136360302E074-36572
chr6136360362136360420E074-36454
chr6136407758136407865E07410884
chr6136407923136408126E07411049
chr6136408127136408243E07411253
chr6136408329136408397E07411455
chr6136360258136360302E081-36572
chr6136360362136360420E081-36454