rs6439442

Homo sapiens
A>C
SRPRB : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0307 (8950/29118,TOPMED)
A==0302 (1513/5008,1000G)
A==0424 (1635/3854,ALSPAC)
A==0424 (1574/3708,TWINSUK)
chr3:133821515 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
115 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133821515A>C
GRCh37.p13 chr 3NC_000003.11:g.133540359A>C

Gene: SRPRB, SRP receptor beta subunit(plus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
SRPRB transcriptNM_021203.3:c.N/ADownstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.138C=0.862
1000GenomesAmericanSub694A=0.340C=0.660
1000GenomesEast AsianSub1008A=0.283C=0.717
1000GenomesEuropeSub1006A=0.443C=0.557
1000GenomesGlobalStudy-wide5008A=0.302C=0.698
1000GenomesSouth AsianSub978A=0.370C=0.630
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.424C=0.576
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.307C=0.692
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.424C=0.576
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs64394422.62E-07alcohol consumption21665994

eQTL of rs6439442 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 rs6439442 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 )
chr3133562885133562960E06722526
chr3133573215133573347E06732856
chr3133573885133574171E06733526
chr3133574725133574824E06734366
chr3133575303133575377E06734944
chr3133584047133584242E06743688
chr3133587242133587401E06746883
chr3133587644133588157E06747285
chr3133588170133588246E06747811
chr3133572273133572376E06831914
chr3133572430133572579E06832071
chr3133572588133572638E06832229
chr3133573215133573347E06832856
chr3133573885133574171E06833526
chr3133574725133574824E06834366
chr3133575303133575377E06834944
chr3133584047133584242E06843688
chr3133587242133587401E06846883
chr3133587644133588157E06847285
chr3133588170133588246E06847811
chr3133540603133541021E069244
chr3133541191133541245E069832
chr3133572273133572376E06931914
chr3133572430133572579E06932071
chr3133572588133572638E06932229
chr3133573215133573347E06932856
chr3133573885133574171E06933526
chr3133574725133574824E06934366
chr3133575303133575377E06934944
chr3133584047133584242E06943688
chr3133587242133587401E06946883
chr3133587644133588157E06947285
chr3133588170133588246E06947811
chr3133547093133547193E0706734
chr3133547516133547745E0707157
chr3133547924133548172E0707565
chr3133572273133572376E07031914
chr3133572430133572579E07032071
chr3133572588133572638E07032229
chr3133573215133573347E07032856
chr3133573885133574171E07033526
chr3133574725133574824E07034366
chr3133575303133575377E07034944
chr3133587242133587401E07046883
chr3133587644133588157E07047285
chr3133540337133540417E0710
chr3133572273133572376E07131914
chr3133572430133572579E07132071
chr3133572588133572638E07132229
chr3133573215133573347E07132856
chr3133573885133574171E07133526
chr3133574725133574824E07134366
chr3133582903133583150E07142544
chr3133584047133584242E07143688
chr3133587242133587401E07146883
chr3133587644133588157E07147285
chr3133588170133588246E07147811
chr3133573215133573347E07232856
chr3133573885133574171E07233526
chr3133574725133574824E07234366
chr3133582298133582380E07241939
chr3133584047133584242E07243688
chr3133587242133587401E07246883
chr3133587644133588157E07247285
chr3133588170133588246E07247811
chr3133540006133540074E073-285
chr3133540337133540417E0730
chr3133540603133541021E073244
chr3133541035133541081E073676
chr3133541191133541245E073832
chr3133572273133572376E07331914
chr3133573215133573347E07332856
chr3133573885133574171E07333526
chr3133574725133574824E07334366
chr3133575303133575377E07334944
chr3133584047133584242E07343688
chr3133587242133587401E07346883
chr3133587644133588157E07347285
chr3133588170133588246E07347811
chr3133540006133540074E074-285
chr3133540337133540417E0740
chr3133540603133541021E074244
chr3133541035133541081E074676
chr3133541191133541245E074832
chr3133541431133541497E0741072
chr3133541623133541762E0741264
chr3133541910133541964E0741551
chr3133572430133572579E07432071
chr3133572588133572638E07432229
chr3133573215133573347E07432856
chr3133573885133574171E07433526
chr3133574725133574824E07434366
chr3133587242133587401E07446883
chr3133587644133588157E07447285
chr3133588170133588246E07447811
chr3133526132133526214E081-14145
chr3133572273133572376E08131914
chr3133573215133573347E08132856
chr3133573885133574171E08133526
chr3133574725133574824E08134366
chr3133587242133587401E08146883
chr3133588170133588246E08147811
chr3133547516133547745E0827157
chr3133547924133548172E0827565
chr3133548284133548391E0827925
chr3133572273133572376E08231914
chr3133572430133572579E08232071
chr3133572588133572638E08232229
chr3133573215133573347E08232856
chr3133573885133574171E08233526
chr3133574725133574824E08234366
chr3133575303133575377E08234944
chr3133587242133587401E08246883
chr3133587644133588157E08247285
chr3133588170133588246E08247811










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E067-14809
chr3133525588133525634E067-14725
chr3133524082133525550E068-14809
chr3133525588133525634E068-14725
chr3133524082133525550E069-14809
chr3133524082133525550E070-14809
chr3133525588133525634E070-14725
chr3133524082133525550E071-14809
chr3133525588133525634E071-14725
chr3133524082133525550E072-14809
chr3133525588133525634E072-14725
chr3133524082133525550E073-14809
chr3133525588133525634E073-14725
chr3133524082133525550E074-14809
chr3133525588133525634E074-14725
chr3133524082133525550E081-14809
chr3133525588133525634E081-14725
chr3133524082133525550E082-14809
chr3133525588133525634E082-14725