rs6921041

Homo sapiens
T>G
PDE7B : Intron Variant
LOC644135 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0485 (14518/29880,GnomAD)
T==0478 (13942/29118,TOPMED)
T==0479 (2399/5008,1000G)
G=0424 (1634/3854,ALSPAC)
G=0433 (1606/3708,TWINSUK)
chr6:136049520 (GRCh38.p7) (6q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
62 Enhancers around
75 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.136049520T>G
GRCh37.p13 chr 6NC_000006.11:g.136370658T>G
PDE7B RefSeqGeneNG_011994.1:g.202825T>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 X4XR_001744372.1:n.N/AIntron Variant
LOC644135 transcript variant X3XR_001744371.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.337G=0.663
1000GenomesAmericanSub694T=0.490G=0.510
1000GenomesEast AsianSub1008T=0.584G=0.416
1000GenomesEuropeSub1006T=0.560G=0.440
1000GenomesGlobalStudy-wide5008T=0.479G=0.521
1000GenomesSouth AsianSub978T=0.470G=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.576G=0.424
The Genome Aggregation DatabaseAfricanSub8680T=0.369G=0.631
The Genome Aggregation DatabaseAmericanSub834T=0.490G=0.510
The Genome Aggregation DatabaseEast AsianSub1608T=0.616G=0.384
The Genome Aggregation DatabaseEuropeSub18456T=0.526G=0.473
The Genome Aggregation DatabaseGlobalStudy-wide29880T=0.485G=0.514
The Genome Aggregation DatabaseOtherSub302T=0.630G=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.478G=0.521
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.567G=0.433
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
rs69210410.000362alcohol dependence24277619

eQTL of rs6921041 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 rs6921041 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 )
chr6136358391136358628E067-12030
chr6136406918136407173E06736260
chr6136333202136333292E068-37366
chr6136333335136333387E068-37271
chr6136333427136333859E068-36799
chr6136353760136353829E068-16829
chr6136356544136357006E068-13652
chr6136357031136357184E068-13474
chr6136357803136358218E068-12440
chr6136365075136365158E068-5500
chr6136372076136372196E0681418
chr6136372308136372622E0681650
chr6136372669136372823E0682011
chr6136376917136376977E0686259
chr6136377003136377053E0686345
chr6136380295136380476E0689637
chr6136380571136380736E0689913
chr6136380766136380869E06810108
chr6136406918136407173E06836260
chr6136347047136347140E069-23518
chr6136357803136358218E069-12440
chr6136358270136358320E069-12338
chr6136358391136358628E069-12030
chr6136380295136380476E0699637
chr6136380571136380736E0699913
chr6136380766136380869E06910108
chr6136380295136380476E0709637
chr6136380571136380736E0709913
chr6136380766136380869E07010108
chr6136381333136381497E07010675
chr6136406918136407173E07036260
chr6136357803136358218E071-12440
chr6136380295136380476E0719637
chr6136380571136380736E0719913
chr6136380766136380869E07110108
chr6136347047136347140E072-23518
chr6136380571136380736E0729913
chr6136380766136380869E07210108
chr6136406918136407173E07236260
chr6136357803136358218E073-12440
chr6136358270136358320E073-12338
chr6136358391136358628E073-12030
chr6136380150136380225E0739492
chr6136380295136380476E0739637
chr6136380571136380736E0739913
chr6136380766136380869E07310108
chr6136358270136358320E074-12338
chr6136358391136358628E074-12030
chr6136380150136380225E0749492
chr6136380295136380476E0749637
chr6136380571136380736E0749913
chr6136380766136380869E07410108
chr6136406918136407173E07436260
chr6136380150136380225E0819492
chr6136380295136380476E0819637
chr6136380571136380736E0819913
chr6136380766136380869E08110108
chr6136380150136380225E0829492
chr6136380295136380476E0829637
chr6136380571136380736E0829913
chr6136380766136380869E08210108
chr6136382989136383106E08212331










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6136359778136359828E067-10830
chr6136359928136359972E067-10686
chr6136360258136360302E067-10356
chr6136407758136407865E06737100
chr6136407923136408126E06737265
chr6136408127136408243E06737469
chr6136408329136408397E06737671
chr6136359778136359828E068-10830
chr6136359928136359972E068-10686
chr6136360258136360302E068-10356
chr6136360362136360420E068-10238
chr6136360490136360622E068-10036
chr6136361261136361321E068-9337
chr6136361437136361506E068-9152
chr6136361645136361747E068-8911
chr6136362755136362823E068-7835
chr6136407758136407865E06837100
chr6136407923136408126E06837265
chr6136408127136408243E06837469
chr6136408329136408397E06837671
chr6136359778136359828E069-10830
chr6136359928136359972E069-10686
chr6136360258136360302E069-10356
chr6136360362136360420E069-10238
chr6136407758136407865E06937100
chr6136407923136408126E06937265
chr6136408127136408243E06937469
chr6136359778136359828E070-10830
chr6136359928136359972E070-10686
chr6136360258136360302E070-10356
chr6136360362136360420E070-10238
chr6136360490136360622E070-10036
chr6136361261136361321E070-9337
chr6136361437136361506E070-9152
chr6136359778136359828E071-10830
chr6136359928136359972E071-10686
chr6136360258136360302E071-10356
chr6136360362136360420E071-10238
chr6136360490136360622E071-10036
chr6136361261136361321E071-9337
chr6136361437136361506E071-9152
chr6136361645136361747E071-8911
chr6136407758136407865E07137100
chr6136407923136408126E07137265
chr6136408127136408243E07137469
chr6136408329136408397E07137671
chr6136359778136359828E072-10830
chr6136359928136359972E072-10686
chr6136360258136360302E072-10356
chr6136360362136360420E072-10238
chr6136360490136360622E072-10036
chr6136407758136407865E07237100
chr6136407923136408126E07237265
chr6136408127136408243E07237469
chr6136408329136408397E07237671
chr6136359778136359828E073-10830
chr6136359928136359972E073-10686
chr6136360258136360302E073-10356
chr6136360362136360420E073-10238
chr6136360490136360622E073-10036
chr6136361437136361506E073-9152
chr6136361645136361747E073-8911
chr6136407758136407865E07337100
chr6136407923136408126E07337265
chr6136408127136408243E07337469
chr6136359778136359828E074-10830
chr6136359928136359972E074-10686
chr6136360258136360302E074-10356
chr6136360362136360420E074-10238
chr6136407758136407865E07437100
chr6136407923136408126E07437265
chr6136408127136408243E07437469
chr6136408329136408397E07437671
chr6136360258136360302E081-10356
chr6136360362136360420E081-10238