rs17288603

Homo sapiens
G>A
ERC2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0324 (9701/29900,GnomAD)
A=0277 (8069/29118,TOPMED)
A=0280 (1404/5008,1000G)
A=0342 (1317/3854,ALSPAC)
A=0341 (1266/3708,TWINSUK)
chr3:55921186 (GRCh38.p7) (3p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.55921186G>A
GRCh37.p13 chr 3NC_000003.11:g.55955214G>A

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
1000GenomesAfricanSub1322G=0.836A=0.164
1000GenomesAmericanSub694G=0.700A=0.300
1000GenomesEast AsianSub1008G=0.759A=0.241
1000GenomesEuropeSub1006G=0.614A=0.386
1000GenomesGlobalStudy-wide5008G=0.720A=0.280
1000GenomesSouth AsianSub978G=0.650A=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.658A=0.342
The Genome Aggregation DatabaseAfricanSub8712G=0.820A=0.180
The Genome Aggregation DatabaseAmericanSub836G=0.730A=0.270
The Genome Aggregation DatabaseEast AsianSub1584G=0.772A=0.228
The Genome Aggregation DatabaseEuropeSub18470G=0.597A=0.402
The Genome Aggregation DatabaseGlobalStudy-wide29900G=0.675A=0.324
The Genome Aggregation DatabaseOtherSub298G=0.630A=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.722A=0.277
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.659A=0.341
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
rs172886030.000782alcohol dependence20201924

eQTL of rs17288603 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 rs17288603 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 )
chr35592247955922547E067-32667
chr35592262455922734E067-32480
chr35592247955922547E068-32667
chr35592262455922734E068-32480
chr35592363155923681E068-31533
chr35592247955922547E069-32667
chr35592262455922734E069-32480
chr35593037055930478E070-24736
chr35593098255931056E070-24158
chr35593105955931318E070-23896
chr35593150955931646E070-23568
chr35593170855931925E070-23289
chr35593211955932213E070-23001
chr35594124055941426E070-13788
chr35594170755942178E070-13036
chr35592247955922547E071-32667
chr35592262455922734E071-32480
chr35592363155923681E071-31533
chr35592247955922547E073-32667
chr35592262455922734E073-32480
chr35592195555921995E074-33219
chr35592247955922547E074-32667
chr35592262455922734E074-32480
chr35590920655909481E081-45733
chr35590977655909853E081-45361