rs4511574

Homo sapiens
C>T
FBXL20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0368 (11018/29944,GnomAD)
T=0447 (13043/29118,TOPMED)
T=0361 (1809/5008,1000G)
T=0254 (979/3854,ALSPAC)
T=0263 (977/3708,TWINSUK)
chr17:39376663 (GRCh38.p7) (17q12)
AD
GWASdb2
1   publication(s)
See rs on genome
72 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.39376663C>T
GRCh37.p13 chr 17NC_000017.10:g.37532916C>T

Gene: FBXL20, F-box and leucine-rich repeat protein 20(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FBXL20 transcript variant 2NM_001184906.1:c.N/AIntron Variant
FBXL20 transcript variant 1NM_032875.2:c.N/AIntron Variant
FBXL20 transcript variant X2XM_005257746.3:c.N/AIntron Variant
FBXL20 transcript variant X1XM_005257747.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.281T=0.719
1000GenomesAmericanSub694C=0.660T=0.340
1000GenomesEast AsianSub1008C=0.737T=0.263
1000GenomesEuropeSub1006C=0.749T=0.251
1000GenomesGlobalStudy-wide5008C=0.639T=0.361
1000GenomesSouth AsianSub978C=0.890T=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.746T=0.254
The Genome Aggregation DatabaseAfricanSub8716C=0.336T=0.664
The Genome Aggregation DatabaseAmericanSub838C=0.690T=0.310
The Genome Aggregation DatabaseEast AsianSub1612C=0.696T=0.304
The Genome Aggregation DatabaseEuropeSub18476C=0.763T=0.236
The Genome Aggregation DatabaseGlobalStudy-wide29944C=0.632T=0.368
The Genome Aggregation DatabaseOtherSub302C=0.650T=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.552T=0.447
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.737T=0.263
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
rs45115740.000464alcohol dependence20201924

eQTL of rs4511574 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 rs4511574 in Fetal Brain

Probe ID Position Gene beta p-value
cg07936489chr17:37558343FBXL200.01933712867080671.7063e-14
cg15445000chr17:37608096MED1-0.04612940573617265.1568e-12
cg00129232chr17:37814104STARD30.006097714374915933.4725e-10
cg20243544chr17:37824526PNMT-0.01445859032405279.5907e-10
cg07936489chr17:37558343FBXL200.0193371291.7100e-14

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 )
chr173751386237514579E067-18337
chr173751611437516171E067-16745
chr173751648837516581E067-16335
chr173751691737517090E067-15826
chr173751733237517382E067-15534
chr173751748037517548E067-15368
chr173752197737522114E067-10802
chr173752229537522372E067-10544
chr173752257237522676E067-10240
chr173754134337541393E0678427
chr173755575637555808E06722840
chr173755588837555928E06722972
chr173755614737556212E06723231
chr173751648837516581E068-16335
chr173751691737517090E068-15826
chr173751733237517382E068-15534
chr173751748037517548E068-15368
chr173753639237536664E0683476
chr173755614737556212E06823231
chr173750876737508817E069-24099
chr173750887737509027E069-23889
chr173750906937509228E069-23688
chr173750924637509478E069-23438
chr173751648837516581E069-16335
chr173751691737517090E069-15826
chr173751733237517382E069-15534
chr173751748037517548E069-15368
chr173752229537522372E069-10544
chr173753639237536664E0693476
chr173755614737556212E06923231
chr173751538737515442E070-17474
chr173751691737517090E070-15826
chr173751733237517382E070-15534
chr173751748037517548E070-15368
chr173755575637555808E07022840
chr173755588837555928E07022972
chr173749095337491073E071-41843
chr173751386237514579E071-18337
chr173751611437516171E071-16745
chr173751648837516581E071-16335
chr173751691737517090E071-15826
chr173751733237517382E071-15534
chr173751748037517548E071-15368
chr173751768337517751E071-15165
chr173752197737522114E071-10802
chr173752229537522372E071-10544
chr173752257237522676E071-10240
chr173753639237536664E0713476
chr173755614737556212E07123231
chr173751648837516581E072-16335
chr173751691737517090E072-15826
chr173751733237517382E072-15534
chr173751748037517548E072-15368
chr173752197737522114E072-10802
chr173752229537522372E072-10544
chr173752257237522676E072-10240
chr173755614737556212E07223231
chr173751691737517090E073-15826
chr173751733237517382E073-15534
chr173751648837516581E074-16335
chr173751691737517090E074-15826
chr173751733237517382E074-15534
chr173751748037517548E074-15368
chr173752257237522676E074-10240
chr173753727237537359E0744356
chr173753811437538164E0745198
chr173755485837554943E08121942
chr173755575637555808E08122840
chr173755588837555928E08122972
chr173755614737556212E08123231
chr173755575637555808E08222840
chr173755588837555928E08222972










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr173755660737559334E06723691
chr173755660737559334E06823691
chr173755660737559334E06923691
chr173755660737559334E07023691
chr173755660737559334E07123691
chr173755660737559334E07223691
chr173755660737559334E07323691
chr173755660737559334E07423691
chr173755660737559334E08123691
chr173755660737559334E08223691