rs2833487

Homo sapiens
A>G
SCAF4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0081 (2426/29928,GnomAD)
G=0091 (2677/29118,TOPMED)
G=0056 (282/5008,1000G)
G=0045 (172/3854,ALSPAC)
G=0042 (156/3708,TWINSUK)
chr21:31715550 (GRCh38.p7) (21q22.11)
AD
GWASdb2
1   publication(s)
See rs on genome
102 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.31715550A>G
GRCh37.p13 chr 21NC_000021.8:g.33087863A>G

Gene: SCAF4, SR-related CTD associated factor 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SCAF4 transcript variant 2NM_001145444.1:c.N/AIntron Variant
SCAF4 transcript variant 3NM_001145445.1:c.N/AIntron Variant
SCAF4 transcript variant 1NM_020706.2:c.N/AIntron Variant
SCAF4 transcript variant X5XM_005261017.2:c.N/AIntron Variant
SCAF4 transcript variant X2XM_006724035.2:c.N/AIntron Variant
SCAF4 transcript variant X4XM_006724036.2:c.N/AIntron Variant
SCAF4 transcript variant X1XM_017028415.1:c.N/AIntron Variant
SCAF4 transcript variant X3XM_017028416.1:c.N/AIntron Variant
SCAF4 transcript variant X6XM_017028417.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.850G=0.150
1000GenomesAmericanSub694A=0.980G=0.020
1000GenomesEast AsianSub1008A=0.996G=0.004
1000GenomesEuropeSub1006A=0.943G=0.057
1000GenomesGlobalStudy-wide5008A=0.944G=0.056
1000GenomesSouth AsianSub978A=0.990G=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.955G=0.045
The Genome Aggregation DatabaseAfricanSub8706A=0.851G=0.149
The Genome Aggregation DatabaseAmericanSub836A=0.980G=0.020
The Genome Aggregation DatabaseEast AsianSub1612A=0.997G=0.003
The Genome Aggregation DatabaseEuropeSub18472A=0.940G=0.060
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.918G=0.081
The Genome Aggregation DatabaseOtherSub302A=0.980G=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.908G=0.091
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.958G=0.042
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs28334870.000604alcohol dependence21314694

eQTL of rs2833487 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 rs2833487 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 )
chr213303821533038309E067-49554
chr213303855333038626E067-49237
chr213303875233038825E067-49038
chr213303890633039020E067-48843
chr213303908633039231E067-48632
chr213303935633039423E067-48440
chr213303945033039574E067-48289
chr213308280933082920E067-4943
chr213308293933083253E067-4610
chr213308699333087220E067-643
chr213308736833087540E067-323
chr213310111733101179E06713254
chr213310119833101335E06713335
chr213310134833101554E06713485
chr213310156333101617E06713700
chr213310167233101863E06713809
chr213303821533038309E068-49554
chr213307874333078864E068-8999
chr213307896933079230E068-8633
chr213308293933083253E068-4610
chr213308330733083431E068-4432
chr213308673333086957E068-906
chr213308699333087220E068-643
chr213308736833087540E068-323
chr213310111733101179E06813254
chr213310119833101335E06813335
chr213310134833101554E06813485
chr213310156333101617E06813700
chr213310167233101863E06813809
chr213308570833085758E069-2105
chr213308631533086427E069-1436
chr213308647633086570E069-1293
chr213308658433086664E069-1199
chr213308673333086957E069-906
chr213308869833088768E069835
chr213310119833101335E06913335
chr213310134833101554E06913485
chr213310156333101617E06913700
chr213310167233101863E06913809
chr213308570833085758E070-2105
chr213308582633085902E070-1961
chr213308631533086427E070-1436
chr213310119833101335E07013335
chr213310134833101554E07013485
chr213310156333101617E07013700
chr213310167233101863E07013809
chr213303821533038309E071-49554
chr213303855333038626E071-49237
chr213303875233038825E071-49038
chr213303890633039020E071-48843
chr213303908633039231E071-48632
chr213308280933082920E071-4943
chr213308293933083253E071-4610
chr213308330733083431E071-4432
chr213308658433086664E071-1199
chr213308673333086957E071-906
chr213308699333087220E071-643
chr213308736833087540E071-323
chr213309577533095825E0717912
chr213309688733096937E0719024
chr213309774333097793E0719880
chr213309789133097977E07110028
chr213310111733101179E07113254
chr213310119833101335E07113335
chr213310134833101554E07113485
chr213310156333101617E07113700
chr213310167233101863E07113809
chr213303821533038309E072-49554
chr213303855333038626E072-49237
chr213309774333097793E0729880
chr213309789133097977E07210028
chr213310111733101179E07213254
chr213310119833101335E07213335
chr213310134833101554E07213485
chr213310156333101617E07213700
chr213310167233101863E07213809
chr213310134833101554E07313485
chr213310156333101617E07313700
chr213310167233101863E07313809
chr213307874333078864E074-8999
chr213307896933079230E074-8633
chr213308658433086664E074-1199
chr213308673333086957E074-906
chr213308699333087220E074-643
chr213308736833087540E074-323
chr213310073533100790E07412872
chr213310111733101179E07413254
chr213310119833101335E07413335
chr213310134833101554E07413485
chr213310156333101617E07413700
chr213310167233101863E07413809
chr213310134833101554E08113485
chr213310156333101617E08113700
chr213310167233101863E08113809
chr213312880433128876E08140941
chr213313088933130939E08143026
chr213308330733083431E082-4432
chr213310036533100472E08212502
chr213310054933100589E08212686
chr213310073533100790E08212872
chr213310111733101179E08213254
chr213310119833101335E08213335










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr213310273133106445E06714868
chr213310273133106445E06814868
chr213310273133106445E06914868
chr213310273133106445E07014868
chr213310273133106445E07114868
chr213310273133106445E07214868
chr213310273133106445E07314868
chr213310273133106445E07414868
chr213310273133106445E08114868
chr213310273133106445E08214868