rs537160

Homo sapiens
A>G
CFB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0286 (8560/29896,GnomAD)
A==0251 (7326/29118,TOPMED)
A==0245 (1226/5008,1000G)
A==0358 (1378/3854,ALSPAC)
A==0360 (1336/3708,TWINSUK)
chr6:31948623 (GRCh38.p7) (6p21.33)
AD
GWASdb2
5   publication(s)
See rs on genome
59 Enhancers around
34 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.31948623A>G
GRCh37.p13 chr 6NC_000006.11:g.31916400A>G
CFB RefSeqGene LRG_136
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.3:g.3426050A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.2:g.3426156A>G
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1NT_167249.2:g.3249812G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1NT_167249.1:g.3249110G>A
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.2:g.3204598G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.1:g.3210194G>A
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_MCF_CTG1NT_167247.2:g.3290659G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1NT_167247.1:g.3296244G>A
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.2:g.3196403G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.1:g.3201988G>A
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_MANN_CTG1NT_167246.2:g.3253600G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1NT_167246.1:g.3259220G>A

Gene: CFB, complement factor B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CFB transcriptNM_001710.5:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.140G=0.860
1000GenomesAmericanSub694A=0.320G=0.680
1000GenomesEast AsianSub1008A=0.428G=0.572
1000GenomesEuropeSub1006A=0.248G=0.752
1000GenomesGlobalStudy-wide5008A=0.245G=0.755
1000GenomesSouth AsianSub978A=0.140G=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.358G=0.642
The Genome Aggregation DatabaseAfricanSub8706A=0.182G=0.818
The Genome Aggregation DatabaseAmericanSub838A=0.290G=0.710
The Genome Aggregation DatabaseEast AsianSub1604A=0.423G=0.577
The Genome Aggregation DatabaseEuropeSub18446A=0.326G=0.673
The Genome Aggregation DatabaseGlobalStudy-wide29896A=0.286G=0.713
The Genome Aggregation DatabaseOtherSub302A=0.120G=0.880
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.251G=0.748
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.360G=0.640
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
22714898Association of C2 and CFB polymorphisms with anterior uveitis.Yang MMInvest Ophthalmol Vis Sci
26648684Update on genetics and diabetic retinopathy.Hampton BMClin Ophthalmol
23864767Association of CFH and CFB gene polymorphisms with retinopathy in type 2 diabetic patients.Wang JMediators Inflamm
19654554The major histocompatibility complex conserved extended haplotype 8.1 in AIDS-related non-Hodgkin lymphoma.Aissani BJ Acquir Immune Defic Syndr

P-Value

SNP ID p-value Traits Study
rs5371600.00099alcohol dependence20201924

eQTL of rs537160 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:31916400HLA-CENSG00000204525.10A>G8.5000e-26676518Cerebellum
Chr6:31916400HLA-CENSG00000204525.10A>G4.3410e-25676518Cerebellar_Hemisphere
Chr6:31916400WASF5PENSG00000231402.1A>G1.7109e-5659659Cerebellar_Hemisphere
Chr6:31916400CYP21A1PENSG00000204338.4A>G3.5262e-8-57066Caudate_basal_ganglia

meQTL of rs537160 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 )
chr63186701431867277E067-49123
chr63186767931867799E067-48601
chr63186780631867869E067-48531
chr63186793131868015E067-48385
chr63186822331868307E067-48093
chr63186841531868487E067-47913
chr63187066031871067E067-45333
chr63192570831925758E0679308
chr63193784631938426E06721446
chr63186701431867277E068-49123
chr63186793131868015E068-48385
chr63186822331868307E068-48093
chr63186841531868487E068-47913
chr63187066031871067E068-45333
chr63192570831925758E0689308
chr63193784631938426E06821446
chr63186701431867277E069-49123
chr63192570831925758E0699308
chr63193784631938426E06921446
chr63187066031871067E070-45333
chr63192570831925758E0709308
chr63186701431867277E071-49123
chr63186767931867799E071-48601
chr63186780631867869E071-48531
chr63186793131868015E071-48385
chr63186822331868307E071-48093
chr63186841531868487E071-47913
chr63187066031871067E071-45333
chr63191287331912941E071-3459
chr63192570831925758E0719308
chr63193784631938426E07121446
chr63193752231937627E07221122
chr63193766031937734E07221260
chr63193784631938426E07221446
chr63194166831941767E07225268
chr63186701431867277E073-49123
chr63186767931867799E073-48601
chr63186780631867869E073-48531
chr63186793131868015E073-48385
chr63191287331912941E073-3459
chr63192457531924646E0738175
chr63192570831925758E0739308
chr63193723131937313E07320831
chr63193752231937627E07321122
chr63187066031871067E074-45333
chr63192570831925758E0749308
chr63186701431867277E081-49123
chr63186767931867799E081-48601
chr63186780631867869E081-48531
chr63186793131868015E081-48385
chr63186822331868307E081-48093
chr63186841531868487E081-47913
chr63192570831925758E0819308
chr63193784631938426E08121446
chr63194166831941767E08125268
chr63187066031871067E082-45333
chr63193723131937313E08220831
chr63193752231937627E08221122
chr63193766031937734E08221260










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63186864731870653E067-45747
chr63192627931927462E0679879
chr63193849231941215E06722092
chr63186864731870653E068-45747
chr63189537931895518E068-20882
chr63189564231895736E068-20664
chr63192627931927462E0689879
chr63193849231941215E06822092
chr63186864731870653E069-45747
chr63192627931927462E0699879
chr63193849231941215E06922092
chr63186864731870653E070-45747
chr63192627931927462E0709879
chr63193849231941215E07022092
chr63186864731870653E071-45747
chr63189564231895736E071-20664
chr63192627931927462E0719879
chr63193849231941215E07122092
chr63186864731870653E072-45747
chr63192627931927462E0729879
chr63193849231941215E07222092
chr63186864731870653E073-45747
chr63189537931895518E073-20882
chr63189564231895736E073-20664
chr63192627931927462E0739879
chr63193849231941215E07322092
chr63186864731870653E074-45747
chr63192627931927462E0749879
chr63193849231941215E07422092
chr63192627931927462E0819879
chr63193849231941215E08122092
chr63186864731870653E082-45747
chr63192627931927462E0829879
chr63193849231941215E08222092