rs6579204

Homo sapiens
A>G
MYH7B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0350 (10472/29878,GnomAD)
G=0360 (10493/29118,TOPMED)
G=0332 (1661/5008,1000G)
A==0367 (1676/4566,GO-ESP)
G=0322 (1241/3854,ALSPAC)
G=0326 (1209/3708,TWINSUK)
chr20:34965874 (GRCh38.p7) (20q11.22)
AD
GWASdb2
1   publication(s)
See rs on genome
274 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.34965874A>G
GRCh37.p13 chr 20NC_000020.10:g.33553677A>G
MYH7B RefSeqGeneNG_016984.2:g.14974A>G

Gene: MYH7B, myosin, heavy chain 7B, cardiac muscle, beta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MYH7B transcriptNM_020884.4:c.N/AIntron Variant
MYH7B transcript variant X3XM_006723840.3:c.N/AGenic Upstream Transcript Variant
MYH7B transcript variant X2XM_011528941.2:c.N/AGenic Upstream Transcript Variant
MYH7B transcript variant X4XM_011528947.2:c.N/AGenic Upstream Transcript Variant
MYH7B transcript variant X5XM_011528948.2:c.N/AGenic Upstream Transcript Variant
MYH7B transcript variant X1XM_017027986.1:c.N/AGenic Upstream Transcript Variant
MYH7B transcript variant X4XM_017027987.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.457G=0.543
1000GenomesAmericanSub694A=0.820G=0.180
1000GenomesEast AsianSub1008A=0.782G=0.218
1000GenomesEuropeSub1006A=0.739G=0.261
1000GenomesGlobalStudy-wide5008A=0.668G=0.332
1000GenomesSouth AsianSub978A=0.660G=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.678G=0.322
The Genome Aggregation DatabaseAfricanSub8690A=0.495G=0.505
The Genome Aggregation DatabaseAmericanSub838A=0.840G=0.160
The Genome Aggregation DatabaseEast AsianSub1618A=0.773G=0.227
The Genome Aggregation DatabaseEuropeSub18430A=0.700G=0.299
The Genome Aggregation DatabaseGlobalStudy-wide29878A=0.649G=0.350
The Genome Aggregation DatabaseOtherSub302A=0.790G=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.639G=0.360
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.674G=0.326
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs65792044.54E-06alcohol dependence23089632

eQTL of rs6579204 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr20:33553677NCOA6ENSG00000198646.9A>G5.1457e-3140225Cortex

meQTL of rs6579204 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 )
chr203352618833526671E067-27006
chr203355694533557105E0673268
chr203355711733557334E0673440
chr203355763333557813E0673956
chr203355791433557995E0674237
chr203355827133558553E0674594
chr203355862533558685E0674948
chr203355879233558897E0675115
chr203355899633559085E0675319
chr203355914833559270E0675471
chr203355928433559569E0675607
chr203356560233566741E06711925
chr203356875133569101E06715074
chr203357428733574444E06720610
chr203357469833574827E06721021
chr203357494333575137E06721266
chr203357516333575223E06721486
chr203357522433575314E06721547
chr203357537633576539E06721699
chr203358442433584570E06730747
chr203358574833585818E06732071
chr203358584633585924E06732169
chr203358594033586168E06732263
chr203360042433600512E06746747
chr203360057133600641E06746894
chr203360067733600727E06747000
chr203360080733600857E06747130
chr203360143633601486E06747759
chr203360151633601571E06747839
chr203360171333601757E06748036
chr203360176733601881E06748090
chr203360197633602121E06748299
chr203360222033602445E06748543
chr203360253733602683E06748860
chr203360269333602763E06749016
chr203360305233603170E06749375
chr203360317533603338E06749498
chr203360336133603495E06749684
chr203360353833603618E06749861
chr203352601833526133E068-27544
chr203352618833526671E068-27006
chr203354837333548963E068-4714
chr203355763333557813E0683956
chr203355791433557995E0684237
chr203355827133558553E0684594
chr203355862533558685E0684948
chr203355879233558897E0685115
chr203355899633559085E0685319
chr203355914833559270E0685471
chr203356560233566741E06811925
chr203357516333575223E06821486
chr203357522433575314E06821547
chr203357537633576539E06821699
chr203358498933585740E06831312
chr203358574833585818E06832071
chr203358584633585924E06832169
chr203358594033586168E06832263
chr203354837333548963E069-4714
chr203355589333556501E0692216
chr203355659333556882E0692916
chr203355694533557105E0693268
chr203355711733557334E0693440
chr203355763333557813E0693956
chr203355791433557995E0694237
chr203355827133558553E0694594
chr203355862533558685E0694948
chr203355879233558897E0695115
chr203355899633559085E0695319
chr203355914833559270E0695471
chr203355928433559569E0695607
chr203355980333560117E0696126
chr203356493433565506E06911257
chr203356560233566741E06911925
chr203356862333568722E06914946
chr203356875133569101E06915074
chr203357356833573765E06919891
chr203357379833573914E06920121
chr203357428733574444E06920610
chr203357469833574827E06921021
chr203357494333575137E06921266
chr203357516333575223E06921486
chr203357522433575314E06921547
chr203357537633576539E06921699
chr203358574833585818E06932071
chr203358584633585924E06932169
chr203358594033586168E06932263
chr203360080733600857E06947130
chr203360143633601486E06947759
chr203360151633601571E06947839
chr203360171333601757E06948036
chr203360176733601881E06948090
chr203360197633602121E06948299
chr203360222033602445E06948543
chr203360253733602683E06948860
chr203360269333602763E06949016
chr203360305233603170E06949375
chr203360317533603338E06949498
chr203360336133603495E06949684
chr203360353833603618E06949861
chr203352618833526671E070-27006
chr203354468533544774E070-8903
chr203352618833526671E071-27006
chr203354837333548963E071-4714
chr203355694533557105E0713268
chr203355711733557334E0713440
chr203355763333557813E0713956
chr203355791433557995E0714237
chr203355827133558553E0714594
chr203355862533558685E0714948
chr203355879233558897E0715115
chr203355899633559085E0715319
chr203355914833559270E0715471
chr203355928433559569E0715607
chr203355980333560117E0716126
chr203356493433565506E07111257
chr203356560233566741E07111925
chr203356862333568722E07114946
chr203356875133569101E07115074
chr203357250333572746E07118826
chr203357279833572878E07119121
chr203357288133573564E07119204
chr203357428733574444E07120610
chr203357469833574827E07121021
chr203357494333575137E07121266
chr203357516333575223E07121486
chr203357522433575314E07121547
chr203357537633576539E07121699
chr203358574833585818E07132071
chr203358584633585924E07132169
chr203358594033586168E07132263
chr203360009533600308E07146418
chr203360042433600512E07146747
chr203360057133600641E07146894
chr203360067733600727E07147000
chr203360080733600857E07147130
chr203360143633601486E07147759
chr203360151633601571E07147839
chr203360171333601757E07148036
chr203360176733601881E07148090
chr203360197633602121E07148299
chr203360222033602445E07148543
chr203360253733602683E07148860
chr203360269333602763E07149016
chr203360305233603170E07149375
chr203360317533603338E07149498
chr203360336133603495E07149684
chr203360353833603618E07149861
chr203354837333548963E072-4714
chr203355659333556882E0722916
chr203355694533557105E0723268
chr203355711733557334E0723440
chr203355763333557813E0723956
chr203355791433557995E0724237
chr203355827133558553E0724594
chr203355862533558685E0724948
chr203355879233558897E0725115
chr203355899633559085E0725319
chr203355914833559270E0725471
chr203355928433559569E0725607
chr203355980333560117E0726126
chr203356051233560578E0726835
chr203356100933561089E0727332
chr203356110533561199E0727428
chr203356385533564420E07210178
chr203356444633564547E07210769
chr203356493433565506E07211257
chr203356560233566741E07211925
chr203356862333568722E07214946
chr203356875133569101E07215074
chr203357250333572746E07218826
chr203357279833572878E07219121
chr203357288133573564E07219204
chr203357356833573765E07219891
chr203357379833573914E07220121
chr203357428733574444E07220610
chr203357469833574827E07221021
chr203357494333575137E07221266
chr203357516333575223E07221486
chr203357522433575314E07221547
chr203357537633576539E07221699
chr203358462633584938E07230949
chr203358574833585818E07232071
chr203358584633585924E07232169
chr203358594033586168E07232263
chr203359946733600060E07245790
chr203360009533600308E07246418
chr203360042433600512E07246747
chr203360057133600641E07246894
chr203360067733600727E07247000
chr203360080733600857E07247130
chr203360143633601486E07247759
chr203360151633601571E07247839
chr203360171333601757E07248036
chr203360176733601881E07248090
chr203360197633602121E07248299
chr203360222033602445E07248543
chr203360253733602683E07248860
chr203360269333602763E07249016
chr203360305233603170E07249375
chr203360317533603338E07249498
chr203360336133603495E07249684
chr203360353833603618E07249861
chr203354468533544774E073-8903
chr203354481333545129E073-8548
chr203355763333557813E0733956
chr203355791433557995E0734237
chr203355827133558553E0734594
chr203355862533558685E0734948
chr203355879233558897E0735115
chr203355899633559085E0735319
chr203355914833559270E0735471
chr203356560233566741E07311925
chr203357469833574827E07321021
chr203357494333575137E07321266
chr203357516333575223E07321486
chr203357522433575314E07321547
chr203357537633576539E07321699
chr203358399433584092E07330317
chr203358418533584229E07330508
chr203358433333584394E07330656
chr203358442433584570E07330747
chr203358462633584938E07330949
chr203358498933585740E07331312
chr203358574833585818E07332071
chr203358584633585924E07332169
chr203358594033586168E07332263
chr203359946733600060E07345790
chr203360009533600308E07346418
chr203360042433600512E07346747
chr203360057133600641E07346894
chr203360067733600727E07347000
chr203360253733602683E07348860
chr203360269333602763E07349016
chr203352618833526671E074-27006
chr203354468533544774E074-8903
chr203354481333545129E074-8548
chr203354514833545266E074-8411
chr203354837333548963E074-4714
chr203355659333556882E0742916
chr203355694533557105E0743268
chr203355711733557334E0743440
chr203355763333557813E0743956
chr203355791433557995E0744237
chr203355827133558553E0744594
chr203355862533558685E0744948
chr203355879233558897E0745115
chr203355899633559085E0745319
chr203355914833559270E0745471
chr203355928433559569E0745607
chr203356493433565506E07411257
chr203356560233566741E07411925
chr203356862333568722E07414946
chr203356875133569101E07415074
chr203357124233571371E07417565
chr203357428733574444E07420610
chr203357469833574827E07421021
chr203357494333575137E07421266
chr203357516333575223E07421486
chr203357522433575314E07421547
chr203357537633576539E07421699
chr203359946733600060E07445790
chr203360009533600308E07446418
chr203360042433600512E07446747
chr203360057133600641E07446894
chr203360067733600727E07447000
chr203360080733600857E07447130
chr203360222033602445E07448543
chr203360253733602683E07448860
chr203360269333602763E07449016
chr203360305233603170E07449375
chr203360317533603338E07449498
chr203360336133603495E07449684
chr203360353833603618E07449861
chr203358498933585740E08131312









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr203354243133544582E067-9095
chr203354243133544582E068-9095
chr203354243133544582E069-9095
chr203354243133544582E070-9095
chr203354243133544582E071-9095
chr203354243133544582E072-9095
chr203354243133544582E073-9095
chr203354243133544582E074-9095
chr203354243133544582E081-9095
chr203354243133544582E082-9095