rs7631846

Homo sapiens
T>C
ERC2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0106 (3199/29932,GnomAD)
C=0145 (4224/29118,TOPMED)
C=0136 (679/5008,1000G)
C=0037 (142/3854,ALSPAC)
C=0042 (154/3708,TWINSUK)
chr3:55849368 (GRCh38.p7) (3p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
79 Enhancers around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.55849368T>C
GRCh37.p13 chr 3NC_000003.11:g.55883396T>C

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
1000GenomesAfricanSub1322T=0.690C=0.310
1000GenomesAmericanSub694T=0.950C=0.050
1000GenomesEast AsianSub1008T=0.968C=0.032
1000GenomesEuropeSub1006T=0.960C=0.040
1000GenomesGlobalStudy-wide5008T=0.864C=0.136
1000GenomesSouth AsianSub978T=0.840C=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.963C=0.037
The Genome Aggregation DatabaseAfricanSub8694T=0.720C=0.280
The Genome Aggregation DatabaseAmericanSub838T=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1620T=0.968C=0.032
The Genome Aggregation DatabaseEuropeSub18478T=0.965C=0.034
The Genome Aggregation DatabaseGlobalStudy-wide29932T=0.893C=0.106
The Genome Aggregation DatabaseOtherSub302T=0.890C=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.854C=0.145
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.958C=0.042
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
rs76318460.00031alcohol dependence20201924

eQTL of rs7631846 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 rs7631846 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 )
chr35590243955902647E06719043
chr35592247955922547E06739083
chr35592262455922734E06739228
chr35589310355893214E0689707
chr35589349555893618E06810099
chr35589387255893966E06810476
chr35590243955902647E06819043
chr35590268855902879E06819292
chr35590293655902986E06819540
chr35592247955922547E06839083
chr35592262455922734E06839228
chr35592363155923681E06840235
chr35585265855852743E069-30653
chr35589262655892676E0699230
chr35589278155892904E0699385
chr35589310355893214E0699707
chr35589349555893618E06910099
chr35589387255893966E06910476
chr35589401755894717E06910621
chr35589507155895195E06911675
chr35590243955902647E06919043
chr35590268855902879E06919292
chr35592247955922547E06939083
chr35592262455922734E06939228
chr35588853255888873E0705136
chr35589244255892588E0709046
chr35589262655892676E0709230
chr35589278155892904E0709385
chr35589310355893214E0709707
chr35589349555893618E07010099
chr35589387255893966E07010476
chr35589401755894717E07010621
chr35589507155895195E07011675
chr35589639655896455E07013000
chr35590452855904663E07021132
chr35590470755904747E07021311
chr35590475455904916E07021358
chr35593037055930478E07046974
chr35593098255931056E07047586
chr35593105955931318E07047663
chr35593150955931646E07048113
chr35593170855931925E07048312
chr35593211955932213E07048723
chr35585265855852743E071-30653
chr35589278155892904E0719385
chr35589310355893214E0719707
chr35589349555893618E07110099
chr35589387255893966E07110476
chr35589401755894717E07110621
chr35590243955902647E07119043
chr35590452855904663E07121132
chr35590470755904747E07121311
chr35590475455904916E07121358
chr35592247955922547E07139083
chr35592262455922734E07139228
chr35592363155923681E07140235
chr35589310355893214E0729707
chr35589349555893618E07210099
chr35589387255893966E07210476
chr35590243955902647E07219043
chr35590268855902879E07219292
chr35590293655902986E07219540
chr35589310355893214E0739707
chr35589349555893618E07310099
chr35589387255893966E07310476
chr35589401755894717E07310621
chr35590243955902647E07319043
chr35590268855902879E07319292
chr35592247955922547E07339083
chr35592262455922734E07339228
chr35589401755894717E07410621
chr35589507155895195E07411675
chr35592195555921995E07438559
chr35592247955922547E07439083
chr35592262455922734E07439228
chr35589401755894717E08110621
chr35589507155895195E08111675
chr35590920655909481E08125810
chr35590977655909853E08126380









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35586189155862127E068-21269
chr35586189155862127E071-21269
chr35586189155862127E074-21269