rs2293585

Homo sapiens
C>T
SPIRE2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0012 (361/29982,GnomAD)
T=0008 (239/29118,TOPMED)
T=0029 (146/5008,1000G)
T=0016 (62/3854,ALSPAC)
T=0013 (49/3708,TWINSUK)
chr16:89822445 (GRCh38.p7) (16q24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
76 Enhancers around
37 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.89822445C>T
GRCh37.p13 chr 16NC_000016.9:g.89888853C>T

Gene: SPIRE2, spire type actin nucleation factor 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SPIRE2 transcriptNM_032451.1:c.N/AGenic Upstream Transcript Variant
SPIRE2 transcript variant X1XM_011523379.1:c.N/AIntron Variant
SPIRE2 transcript variant X2XM_011523381.1:c.N/AIntron Variant
SPIRE2 transcript variant X7XM_011523380.2:c.N/AGenic Upstream Transcript Variant
SPIRE2 transcript variant X6XM_011523384.1:c.N/AGenic Upstream Transcript Variant
SPIRE2 transcript variant X9XM_011523385.1:c.N/AGenic Upstream Transcript Variant
SPIRE2 transcript variant X3XM_017023779.1:c.N/AGenic Upstream Transcript Variant
SPIRE2 transcript variant X4XM_017023780.1:c.N/AGenic Upstream Transcript Variant
SPIRE2 transcript variant X5XM_017023781.1:c.N/AGenic Upstream Transcript Variant
SPIRE2 transcript variant X8XR_001752005.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=1.000T=0.000
1000GenomesAmericanSub694C=0.980T=0.020
1000GenomesEast AsianSub1008C=0.944T=0.056
1000GenomesEuropeSub1006C=0.986T=0.014
1000GenomesGlobalStudy-wide5008C=0.971T=0.029
1000GenomesSouth AsianSub978C=0.940T=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.984T=0.016
The Genome Aggregation DatabaseAfricanSub8730C=0.998T=0.002
The Genome Aggregation DatabaseAmericanSub838C=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1620C=0.942T=0.058
The Genome Aggregation DatabaseEuropeSub18492C=0.987T=0.012
The Genome Aggregation DatabaseGlobalStudy-wide29982C=0.988T=0.012
The Genome Aggregation DatabaseOtherSub302C=0.990T=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.991T=0.008
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.987T=0.013
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs22935851.01E-05alcohol consumption23953852

eQTL of rs2293585 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 rs2293585 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 )
chr168988394589884213E067-4640
chr168984522589845276E068-43577
chr168984537889845919E068-42934
chr168984599389846079E068-42774
chr168984608289846217E068-42636
chr168984623289846356E068-42497
chr168984647489846622E068-42231
chr168984694289847002E068-41851
chr168988526189885353E068-3500
chr168988539189885612E068-3241
chr168984522589845276E069-43577
chr168984537889845919E069-42934
chr168984599389846079E069-42774
chr168984608289846217E069-42636
chr168984623289846356E069-42497
chr168984647489846622E069-42231
chr168988539189885612E069-3241
chr168988394589884213E070-4640
chr168988423589884335E070-4518
chr168988539189885612E070-3241
chr168988569189885791E070-3062
chr168984522589845276E071-43577
chr168984537889845919E071-42934
chr168984599389846079E071-42774
chr168984608289846217E071-42636
chr168984623289846356E071-42497
chr168984647489846622E071-42231
chr168988394589884213E071-4640
chr168992926089929428E07140407
chr168992955289929664E07140699
chr168984522589845276E072-43577
chr168984537889845919E072-42934
chr168984599389846079E072-42774
chr168984608289846217E072-42636
chr168986133789861387E072-27466
chr168986178089861834E072-27019
chr168986220389862358E072-26495
chr168986240989862490E072-26363
chr168986267389862734E072-26119
chr168986297089863020E072-25833
chr168986667289866729E072-22124
chr168984522589845276E073-43577
chr168984537889845919E073-42934
chr168984599389846079E073-42774
chr168984608289846217E073-42636
chr168984623289846356E073-42497
chr168986220389862358E073-26495
chr168986240989862490E073-26363
chr168986502189865455E073-23398
chr168986556289865797E073-23056
chr168991027989910374E07321426
chr168984522589845276E074-43577
chr168984537889845919E074-42934
chr168984599389846079E074-42774
chr168984608289846217E074-42636
chr168984623289846356E074-42497
chr168992926089929428E07440407
chr168992955289929664E07440699
chr168987062789870677E081-18176
chr168987077589870825E081-18028
chr168987085289870902E081-17951
chr168987092489871080E081-17773
chr168987151889872375E081-16478
chr168987265789872731E081-16122
chr168988394589884213E081-4640
chr168988423589884335E081-4518
chr168988441689884551E081-4302
chr168988483489884914E081-3939
chr168988841689888531E081-322
chr168988853889889817E0810
chr168989311989893828E0814266
chr168987062789870677E082-18176
chr168987077589870825E082-18028
chr168987085289870902E082-17951
chr168987092489871080E082-17773
chr168987151889872375E082-16478










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr168988211189882725E067-6128
chr168988272689883593E067-5260
chr168988372789883784E067-5069
chr168989383589896963E0674982
chr168988211189882725E068-6128
chr168988272689883593E068-5260
chr168988372789883784E068-5069
chr168989383589896963E0684982
chr168988211189882725E069-6128
chr168988272689883593E069-5260
chr168988372789883784E069-5069
chr168989383589896963E0694982
chr168988211189882725E070-6128
chr168988272689883593E070-5260
chr168988372789883784E070-5069
chr168989383589896963E0704982
chr168988211189882725E071-6128
chr168988272689883593E071-5260
chr168988372789883784E071-5069
chr168989383589896963E0714982
chr168988211189882725E072-6128
chr168988272689883593E072-5260
chr168988372789883784E072-5069
chr168989383589896963E0724982
chr168988211189882725E073-6128
chr168988272689883593E073-5260
chr168988372789883784E073-5069
chr168989383589896963E0734982
chr168988272689883593E074-5260
chr168988372789883784E074-5069
chr168989383589896963E0744982
chr168988272689883593E081-5260
chr168988052389880576E082-8277
chr168988211189882725E082-6128
chr168988272689883593E082-5260
chr168988372789883784E082-5069
chr168989383589896963E0824982