rs2303975

Homo sapiens
G>A
SPON1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0162 (4871/29956,GnomAD)
A=0140 (4092/29118,TOPMED)
A=0157 (787/5008,1000G)
A=0111 (429/3854,ALSPAC)
A=0112 (416/3708,TWINSUK)
chr11:14255453 (GRCh38.p7) (11p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
79 Enhancers around
102 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.14255453G>A
GRCh37.p13 chr 11 fix patch HG256_PATCHNW_003871075.1:g.313537G>A
GRCh37.p13 chr 11NC_000011.9:g.14276999G>A

Gene: SPON1, spondin 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SPON1 transcriptNM_006108.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.766A=0.234
1000GenomesAmericanSub694G=0.900A=0.100
1000GenomesEast AsianSub1008G=0.813A=0.187
1000GenomesEuropeSub1006G=0.875A=0.125
1000GenomesGlobalStudy-wide5008G=0.843A=0.157
1000GenomesSouth AsianSub978G=0.900A=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.889A=0.111
The Genome Aggregation DatabaseAfricanSub8720G=0.807A=0.193
The Genome Aggregation DatabaseAmericanSub838G=0.920A=0.080
The Genome Aggregation DatabaseEast AsianSub1616G=0.812A=0.188
The Genome Aggregation DatabaseEuropeSub18482G=0.849A=0.150
The Genome Aggregation DatabaseGlobalStudy-wide29956G=0.837A=0.162
The Genome Aggregation DatabaseOtherSub300G=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.859A=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.888A=0.112
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
rs23039750.00016alcohol dependence20201924

eQTL of rs2303975 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 rs2303975 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 )
chr11326111326237E06712574
chr11326242327852E06712705
chr11350483351410E06736946
chr11357716357804E06744179
chr11357812357955E06744275
chr11325785325883E06812248
chr11325989326101E06812452
chr11326111326237E06812574
chr11326242327852E06812705
chr11328032328197E06814495
chr11328293328580E06814756
chr11335536337159E06821999
chr11352587352772E06839050
chr11352835354238E06839298
chr11325785325883E06912248
chr11325989326101E06912452
chr11326111326237E06912574
chr11326242327852E06912705
chr11334067334975E06920530
chr11335536337159E06921999
chr11350483351410E06936946
chr11352587352772E06939050
chr11352835354238E06939298
chr11324235324896E07110698
chr11324977325190E07111440
chr11325210325319E07111673
chr11325321325401E07111784
chr11325544325588E07112007
chr11325633325706E07112096
chr11325785325883E07112248
chr11325989326101E07112452
chr11326111326237E07112574
chr11326242327852E07112705
chr11328032328197E07114495
chr11328293328580E07114756
chr11335148335188E07121611
chr11335250335303E07121713
chr11335413335497E07121876
chr11335536337159E07121999
chr11337609337659E07124072
chr11349879350005E07136342
chr11350175350272E07136638
chr11350483351410E07136946
chr11352587352772E07139050
chr11352835354238E07139298
chr11321320321364E0727783
chr11326111326237E07212574
chr11326242327852E07212705
chr11335536337159E07221999
chr11349623349683E07236086
chr11349879350005E07236342
chr11350175350272E07236638
chr11352835354238E07239298
chr11306621306699E073-6838
chr11324235324896E07310698
chr11324977325190E07311440
chr11326111326237E07312574
chr11326242327852E07312705
chr11335536337159E07321999
chr11342185342386E07328648
chr11342390342745E07328853
chr11352444352550E07338907
chr11352587352772E07339050
chr11352835354238E07339298
chr11324235324896E07410698
chr11324977325190E07411440
chr11325210325319E07411673
chr11325321325401E07411784
chr11325544325588E07412007
chr11325633325706E07412096
chr11325785325883E07412248
chr11325989326101E07412452
chr11326111326237E07412574
chr11326242327852E07412705
chr11335536337159E07421999
chr11350483351410E07436946
chr11352444352550E07438907
chr11352587352772E07439050
chr11352835354238E07439298







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11287842289291E067-24246
chr11307747308462E067-5075
chr11308510308648E067-4889
chr11308882308946E067-4591
chr11309107309706E067-3831
chr11309723310261E067-3276
chr11314442314663E067905
chr11314994315872E0671457
chr11315976317972E0672439
chr11319525319915E0675988
chr11320038320102E0676501
chr11320332321239E0676795
chr11279886280608E068-32929
chr11287842289291E068-24246
chr11307747308462E068-5075
chr11308510308648E068-4889
chr11308882308946E068-4591
chr11309107309706E068-3831
chr11309723310261E068-3276
chr11314442314663E068905
chr11314994315872E0681457
chr11315976317972E0682439
chr11318953319019E0685416
chr11319198319265E0685661
chr11319525319915E0685988
chr11320038320102E0686501
chr11320332321239E0686795
chr11307747308462E069-5075
chr11308510308648E069-4889
chr11308882308946E069-4591
chr11309107309706E069-3831
chr11309723310261E069-3276
chr11314442314663E069905
chr11314994315872E0691457
chr11319525319915E0695988
chr11320038320102E0696501
chr11320332321239E0696795
chr11287842289291E070-24246
chr11318953319019E0705416
chr11319198319265E0705661
chr11319525319915E0705988
chr11320038320102E0706501
chr11320332321239E0706795
chr11279886280608E071-32929
chr11307747308462E071-5075
chr11308510308648E071-4889
chr11308882308946E071-4591
chr11309107309706E071-3831
chr11309723310261E071-3276
chr11314442314663E071905
chr11314994315872E0711457
chr11315976317972E0712439
chr11318953319019E0715416
chr11319198319265E0715661
chr11319525319915E0715988
chr11320038320102E0716501
chr11320332321239E0716795
chr11307747308462E072-5075
chr11308510308648E072-4889
chr11308882308946E072-4591
chr11309107309706E072-3831
chr11309723310261E072-3276
chr11314442314663E072905
chr11314994315872E0721457
chr11315976317972E0722439
chr11318953319019E0725416
chr11319198319265E0725661
chr11319525319915E0725988
chr11320038320102E0726501
chr11320332321239E0726795
chr11287842289291E073-24246
chr11307747308462E073-5075
chr11308510308648E073-4889
chr11308882308946E073-4591
chr11309107309706E073-3831
chr11309723310261E073-3276
chr11314442314663E073905
chr11314994315872E0731457
chr11315976317972E0732439
chr11318953319019E0735416
chr11319198319265E0735661
chr11319525319915E0735988
chr11320038320102E0736501
chr11320332321239E0736795
chr11287842289291E074-24246
chr11308510308648E074-4889
chr11308882308946E074-4591
chr11309107309706E074-3831
chr11309723310261E074-3276
chr11314994315872E0741457
chr11318953319019E0745416
chr11319198319265E0745661
chr11319525319915E0745988
chr11320038320102E0746501
chr11320332321239E0746795
chr11279886280608E082-32929
chr11287842289291E082-24246
chr11318953319019E0825416
chr11319198319265E0825661
chr11319525319915E0825988
chr11320038320102E0826501
chr11320332321239E0826795