rs374810

Homo sapiens
G>A
RSPO2 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0394 (11793/29888,GnomAD)
A=0355 (10339/29118,TOPMED)
A=0398 (1992/5008,1000G)
A=0454 (1748/3854,ALSPAC)
A=0467 (1732/3708,TWINSUK)
chr8:108083801 (GRCh38.p7) (8q23.1)
AD
GWASdb2
4   publication(s)
See rs on genome
5 Enhancers around
13 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.108083801G>A
GRCh37.p13 chr 8NC_000008.10:g.109096029G>A

Gene: RSPO2, R-spondin 2(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
RSPO2 transcript variant 2NM_001282863.1:c.N/AUpstream Transcript Variant
RSPO2 transcript variant 3NM_001317942.1:c.N/AUpstream Transcript Variant
RSPO2 transcript variant 1NM_178565.4:c.N/AUpstream Transcript Variant
RSPO2 transcript variant X1XM_011517018.1:c.N/AUpstream Transcript Variant
RSPO2 transcript variant X2XM_011517019.1:c.N/AUpstream Transcript Variant
RSPO2 transcript variant X3XM_017013395.1:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.815A=0.185
1000GenomesAmericanSub694G=0.650A=0.350
1000GenomesEast AsianSub1008G=0.507A=0.493
1000GenomesEuropeSub1006G=0.520A=0.480
1000GenomesGlobalStudy-wide5008G=0.602A=0.398
1000GenomesSouth AsianSub978G=0.460A=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.546A=0.454
The Genome Aggregation DatabaseAfricanSub8702G=0.795A=0.205
The Genome Aggregation DatabaseAmericanSub838G=0.590A=0.410
The Genome Aggregation DatabaseEast AsianSub1614G=0.474A=0.526
The Genome Aggregation DatabaseEuropeSub18434G=0.529A=0.470
The Genome Aggregation DatabaseGlobalStudy-wide29888G=0.605A=0.394
The Genome Aggregation DatabaseOtherSub300G=0.550A=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.644A=0.355
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.533A=0.467
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
27013624[Genomic analysis of ossification of the posterior longitudinal ligament].Tsuji TClin Calcium
25504229Genomic study of ossification of the posterior longitudinal ligament of the spine.Ikegawa SProc Jpn Acad Ser B Phys Biol Sci
25064007A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.Nakajima MNat Genet

P-Value

SNP ID p-value Traits Study
rs3748100.000158alcohol dependence20201924

eQTL of rs374810 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 rs374810 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 )
chr8109085189109085264E068-10765
chr8109085294109085820E068-10209
chr8109092616109093078E071-2951
chr8109085294109085820E072-10209
chr8109085294109085820E074-10209




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr8109091786109092534E067-3495
chr8109093107109093202E067-2827
chr8109093412109096239E0670
chr8109093412109096239E0680
chr8109093412109096239E0690
chr8109093412109096239E0710
chr8109093107109093202E072-2827
chr8109093412109096239E0720
chr8109091786109092534E073-3495
chr8109093107109093202E073-2827
chr8109093412109096239E0730
chr8109093412109096239E0740
chr8109093107109093202E081-2827