rs6782906

Homo sapiens
C>A / C>T
ERC2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0165 (4943/29942,GnomAD)
T=0214 (6233/29118,TOPMED)
T=0230 (1151/5008,1000G)
T=0098 (376/3854,ALSPAC)
T=0091 (336/3708,TWINSUK)
chr3:55847492 (GRCh38.p7) (3p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
115 Enhancers around
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.55847492C>A
GRCh38.p7 chr 3NC_000003.12:g.55847492C>T
GRCh37.p13 chr 3NC_000003.11:g.55881520C>A
GRCh37.p13 chr 3NC_000003.11:g.55881520C>T

Gene: ERC2, ELKS/RAB6-interacting/CAST family member 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ERC2 transcript variant 1NM_015576.2:c.N/AIntron Variant
ERC2 transcript variant 2NR_132749.1:n.N/AIntron Variant
ERC2 transcript variant X1XM_017006138.1:c.N/AIntron Variant
ERC2 transcript variant X2XM_017006139.1:c.N/AIntron Variant
ERC2 transcript variant X3XM_017006140.1:c.N/AIntron Variant
ERC2 transcript variant X4XM_017006141.1:c.N/AIntron Variant
ERC2 transcript variant X6XM_017006142.1:c.N/AIntron Variant
ERC2 transcript variant X7XM_017006143.1:c.N/AIntron Variant
ERC2 transcript variant X8XM_017006144.1:c.N/AIntron Variant
ERC2 transcript variant X9XM_017006145.1:c.N/AIntron Variant
ERC2 transcript variant X10XM_017006146.1:c.N/AIntron Variant
ERC2 transcript variant X11XM_017006147.1:c.N/AIntron Variant
ERC2 transcript variant X12XM_017006148.1:c.N/AIntron Variant
ERC2 transcript variant X13XM_017006149.1:c.N/AIntron Variant
ERC2 transcript variant X14XM_017006150.1:c.N/AIntron Variant
ERC2 transcript variant X15XM_017006151.1:c.N/AIntron Variant
ERC2 transcript variant X16XM_017006152.1:c.N/AIntron Variant
ERC2 transcript variant X17XM_017006153.1:c.N/AIntron Variant
ERC2 transcript variant X18XM_017006154.1:c.N/AIntron Variant
ERC2 transcript variant X19XM_017006155.1:c.N/AIntron Variant
ERC2 transcript variant X20XM_017006156.1:c.N/AIntron Variant
ERC2 transcript variant X21XM_017006157.1:c.N/AIntron Variant
ERC2 transcript variant X22XM_017006158.1:c.N/AIntron Variant
ERC2 transcript variant X23XM_017006159.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.587T=0.413
1000GenomesAmericanSub694C=0.880T=0.120
1000GenomesEast AsianSub1008C=0.891T=0.109
1000GenomesEuropeSub1006C=0.909T=0.091
1000GenomesGlobalStudy-wide5008C=0.770T=0.230
1000GenomesSouth AsianSub978C=0.670T=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.902T=0.098
The Genome Aggregation DatabaseAfricanSub8698C=0.635T=0.365
The Genome Aggregation DatabaseAmericanSub838C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1616C=0.886T=0.114
The Genome Aggregation DatabaseEuropeSub18488C=0.921T=0.078
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.834T=0.165
The Genome Aggregation DatabaseOtherSub302C=0.800T=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.785T=0.214
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.909T=0.091
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs67829060.000226alcohol dependence20201924

eQTL of rs6782906 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 rs6782906 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 )
chr3132773413132773902E067-43995
chr3132774268132774338E067-43559
chr3132774356132774413E067-43484
chr3132774504132774595E067-43302
chr3132837932132838463E06720035
chr3132856186132856236E06738289
chr3132856462132856752E06738565
chr3132856774132856824E06738877
chr3132856087132856167E06838190
chr3132856186132856236E06838289
chr3132856462132856752E06838565
chr3132838788132838869E06920891
chr3132855284132855520E06937387
chr3132855706132855757E06937809
chr3132856087132856167E06938190
chr3132856186132856236E06938289
chr3132856462132856752E06938565
chr3132773413132773902E070-43995
chr3132774268132774338E070-43559
chr3132774356132774413E070-43484
chr3132774504132774595E070-43302
chr3132815877132815999E070-1898
chr3132837932132838463E07020035
chr3132838788132838869E07020891
chr3132843348132843770E07025451
chr3132856087132856167E07038190
chr3132856186132856236E07038289
chr3132856462132856752E07038565
chr3132856774132856824E07038877
chr3132843348132843770E07125451
chr3132855284132855520E07137387
chr3132855706132855757E07137809
chr3132856087132856167E07138190
chr3132856186132856236E07138289
chr3132856462132856752E07138565
chr3132856774132856824E07138877
chr3132856186132856236E07238289
chr3132856462132856752E07238565
chr3132856774132856824E07238877
chr3132843348132843770E07325451
chr3132855284132855520E07337387
chr3132855706132855757E07337809
chr3132856087132856167E07338190
chr3132856186132856236E07338289
chr3132836054132836108E07418157
chr3132837932132838463E07420035
chr3132840485132840593E07422588
chr3132855284132855520E07437387
chr3132855706132855757E07437809
chr3132856087132856167E07438190
chr3132856186132856236E07438289
chr3132768416132768641E081-49256
chr3132769259132769309E081-48588
chr3132773413132773902E081-43995
chr3132774268132774338E081-43559
chr3132774356132774413E081-43484
chr3132774504132774595E081-43302
chr3132777238132777396E081-40501
chr3132777930132778004E081-39893
chr3132784119132784227E081-33670
chr3132784475132784615E081-33282
chr3132784632132784766E081-33131
chr3132784805132785151E081-32746
chr3132786092132786194E081-31703
chr3132788492132788562E081-29335
chr3132789103132789168E081-28729
chr3132793845132794128E081-23769
chr3132823069132823478E0815172
chr3132825145132825239E0817248
chr3132826336132826625E0818439
chr3132832996132833040E08115099
chr3132833219132833273E08115322
chr3132837932132838463E08120035
chr3132840485132840593E08122588
chr3132843348132843770E08125451
chr3132853671132853721E08135774
chr3132854303132854409E08136406
chr3132855104132855170E08137207
chr3132855284132855520E08137387
chr3132855706132855757E08137809
chr3132856087132856167E08138190
chr3132856186132856236E08138289
chr3132856462132856752E08138565
chr3132856774132856824E08138877
chr3132768416132768641E082-49256
chr3132773413132773902E082-43995
chr3132777238132777396E082-40501
chr3132777930132778004E082-39893
chr3132784119132784227E082-33670
chr3132784475132784615E082-33282
chr3132784632132784766E082-33131
chr3132784805132785151E082-32746
chr3132786092132786194E082-31703
chr3132789103132789168E082-28729
chr3132815877132815999E082-1898
chr3132816229132816351E082-1546
chr3132828815132828867E08210918
chr3132828918132828972E08211021
chr3132829019132829098E08211122
chr3132832842132832982E08214945
chr3132832996132833040E08215099
chr3132833219132833273E08215322
chr3132834391132834441E08216494
chr3132840164132840451E08222267
chr3132840485132840593E08222588
chr3132854303132854409E08236406
chr3132855104132855170E08237207
chr3132855284132855520E08237387
chr3132855706132855757E08237809
chr3132856087132856167E08238190
chr3132856186132856236E08238289
chr3132856462132856752E08238565
chr3132856774132856824E08238877
chr3132860623132860761E08242726
chr3132861966132862014E08244069










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3132844154132844283E06826257
chr3132844154132844283E07226257
chr3132844154132844283E07326257
chr3132844154132844283E08126257
chr3132844154132844283E08226257