rs731274

Homo sapiens
G>A
SPON1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0165 (4952/29922,GnomAD)
A=0146 (4269/29118,TOPMED)
A=0159 (795/5008,1000G)
A=0111 (429/3854,ALSPAC)
A=0112 (415/3708,TWINSUK)
chr11:14252131 (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.14252131G>A
GRCh37.p13 chr 11 fix patch HG256_PATCHNW_003871075.1:g.310215G>A
GRCh37.p13 chr 11NC_000011.9:g.14273677G>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=0.759A=0.241
1000GenomesAmericanSub694G=0.900A=0.100
1000GenomesEast AsianSub1008G=0.813A=0.187
1000GenomesEuropeSub1006G=0.875A=0.125
1000GenomesGlobalStudy-wide5008G=0.841A=0.159
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 DatabaseAfricanSub8700G=0.798A=0.202
The Genome Aggregation DatabaseAmericanSub838G=0.920A=0.080
The Genome Aggregation DatabaseEast AsianSub1614G=0.810A=0.190
The Genome Aggregation DatabaseEuropeSub18470G=0.849A=0.150
The Genome Aggregation DatabaseGlobalStudy-wide29922G=0.834A=0.165
The Genome Aggregation DatabaseOtherSub300G=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.853A=0.146
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
rs7312740.000158alcohol dependence20201924

eQTL of rs731274 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 rs731274 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 )
chr11326111326237E06715896
chr11326242327852E06716027
chr11350483351410E06740268
chr11357716357804E06747501
chr11357812357955E06747597
chr11325785325883E06815570
chr11325989326101E06815774
chr11326111326237E06815896
chr11326242327852E06816027
chr11328032328197E06817817
chr11328293328580E06818078
chr11335536337159E06825321
chr11352587352772E06842372
chr11352835354238E06842620
chr11325785325883E06915570
chr11325989326101E06915774
chr11326111326237E06915896
chr11326242327852E06916027
chr11334067334975E06923852
chr11335536337159E06925321
chr11350483351410E06940268
chr11352587352772E06942372
chr11352835354238E06942620
chr11324235324896E07114020
chr11324977325190E07114762
chr11325210325319E07114995
chr11325321325401E07115106
chr11325544325588E07115329
chr11325633325706E07115418
chr11325785325883E07115570
chr11325989326101E07115774
chr11326111326237E07115896
chr11326242327852E07116027
chr11328032328197E07117817
chr11328293328580E07118078
chr11335148335188E07124933
chr11335250335303E07125035
chr11335413335497E07125198
chr11335536337159E07125321
chr11337609337659E07127394
chr11349879350005E07139664
chr11350175350272E07139960
chr11350483351410E07140268
chr11352587352772E07142372
chr11352835354238E07142620
chr11321320321364E07211105
chr11326111326237E07215896
chr11326242327852E07216027
chr11335536337159E07225321
chr11349623349683E07239408
chr11349879350005E07239664
chr11350175350272E07239960
chr11352835354238E07242620
chr11306621306699E073-3516
chr11324235324896E07314020
chr11324977325190E07314762
chr11326111326237E07315896
chr11326242327852E07316027
chr11335536337159E07325321
chr11342185342386E07331970
chr11342390342745E07332175
chr11352444352550E07342229
chr11352587352772E07342372
chr11352835354238E07342620
chr11324235324896E07414020
chr11324977325190E07414762
chr11325210325319E07414995
chr11325321325401E07415106
chr11325544325588E07415329
chr11325633325706E07415418
chr11325785325883E07415570
chr11325989326101E07415774
chr11326111326237E07415896
chr11326242327852E07416027
chr11335536337159E07425321
chr11350483351410E07440268
chr11352444352550E07442229
chr11352587352772E07442372
chr11352835354238E07442620







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11287842289291E067-20924
chr11307747308462E067-1753
chr11308510308648E067-1567
chr11308882308946E067-1269
chr11309107309706E067-509
chr11309723310261E0670
chr11314442314663E0674227
chr11314994315872E0674779
chr11315976317972E0675761
chr11319525319915E0679310
chr11320038320102E0679823
chr11320332321239E06710117
chr11279886280608E068-29607
chr11287842289291E068-20924
chr11307747308462E068-1753
chr11308510308648E068-1567
chr11308882308946E068-1269
chr11309107309706E068-509
chr11309723310261E0680
chr11314442314663E0684227
chr11314994315872E0684779
chr11315976317972E0685761
chr11318953319019E0688738
chr11319198319265E0688983
chr11319525319915E0689310
chr11320038320102E0689823
chr11320332321239E06810117
chr11307747308462E069-1753
chr11308510308648E069-1567
chr11308882308946E069-1269
chr11309107309706E069-509
chr11309723310261E0690
chr11314442314663E0694227
chr11314994315872E0694779
chr11319525319915E0699310
chr11320038320102E0699823
chr11320332321239E06910117
chr11287842289291E070-20924
chr11318953319019E0708738
chr11319198319265E0708983
chr11319525319915E0709310
chr11320038320102E0709823
chr11320332321239E07010117
chr11279886280608E071-29607
chr11307747308462E071-1753
chr11308510308648E071-1567
chr11308882308946E071-1269
chr11309107309706E071-509
chr11309723310261E0710
chr11314442314663E0714227
chr11314994315872E0714779
chr11315976317972E0715761
chr11318953319019E0718738
chr11319198319265E0718983
chr11319525319915E0719310
chr11320038320102E0719823
chr11320332321239E07110117
chr11307747308462E072-1753
chr11308510308648E072-1567
chr11308882308946E072-1269
chr11309107309706E072-509
chr11309723310261E0720
chr11314442314663E0724227
chr11314994315872E0724779
chr11315976317972E0725761
chr11318953319019E0728738
chr11319198319265E0728983
chr11319525319915E0729310
chr11320038320102E0729823
chr11320332321239E07210117
chr11287842289291E073-20924
chr11307747308462E073-1753
chr11308510308648E073-1567
chr11308882308946E073-1269
chr11309107309706E073-509
chr11309723310261E0730
chr11314442314663E0734227
chr11314994315872E0734779
chr11315976317972E0735761
chr11318953319019E0738738
chr11319198319265E0738983
chr11319525319915E0739310
chr11320038320102E0739823
chr11320332321239E07310117
chr11287842289291E074-20924
chr11308510308648E074-1567
chr11308882308946E074-1269
chr11309107309706E074-509
chr11309723310261E0740
chr11314994315872E0744779
chr11318953319019E0748738
chr11319198319265E0748983
chr11319525319915E0749310
chr11320038320102E0749823
chr11320332321239E07410117
chr11279886280608E082-29607
chr11287842289291E082-20924
chr11318953319019E0828738
chr11319198319265E0828983
chr11319525319915E0829310
chr11320038320102E0829823
chr11320332321239E08210117