rs6439441

Homo sapiens
A>G
SRPRB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0373 (11178/29910,GnomAD)
A==0323 (9408/29118,TOPMED)
A==0317 (1588/5008,1000G)
A==0461 (1778/3854,ALSPAC)
A==0457 (1695/3708,TWINSUK)
chr3:133810750 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
108 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133810750A>G
GRCh37.p13 chr 3NC_000003.11:g.133529594A>G

Gene: SRPRB, SRP receptor beta subunit(plus strand)

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.128G=0.872
1000GenomesAmericanSub694A=0.440G=0.560
1000GenomesEast AsianSub1008A=0.281G=0.719
1000GenomesEuropeSub1006A=0.473G=0.527
1000GenomesGlobalStudy-wide5008A=0.317G=0.683
1000GenomesSouth AsianSub978A=0.360G=0.640
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.461G=0.539
The Genome Aggregation DatabaseAfricanSub8702A=0.156G=0.844
The Genome Aggregation DatabaseAmericanSub834A=0.470G=0.530
The Genome Aggregation DatabaseEast AsianSub1610A=0.293G=0.707
The Genome Aggregation DatabaseEuropeSub18462A=0.479G=0.520
The Genome Aggregation DatabaseGlobalStudy-wide29910A=0.373G=0.626
The Genome Aggregation DatabaseOtherSub302A=0.360G=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.323G=0.676
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.457G=0.543
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
rs64394414.69E-11alcohol consumption21665994

eQTL of rs6439441 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 rs6439441 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 )
chr3133482923133483028E067-46566
chr3133483054133483594E067-46000
chr3133483998133484070E067-45524
chr3133562885133562960E06733291
chr3133573215133573347E06743621
chr3133573885133574171E06744291
chr3133574725133574824E06745131
chr3133575303133575377E06745709
chr3133482562133482616E068-46978
chr3133482923133483028E068-46566
chr3133483054133483594E068-46000
chr3133572273133572376E06842679
chr3133572430133572579E06842836
chr3133572588133572638E06842994
chr3133573215133573347E06843621
chr3133573885133574171E06844291
chr3133574725133574824E06845131
chr3133575303133575377E06845709
chr3133482562133482616E069-46978
chr3133482923133483028E069-46566
chr3133483054133483594E069-46000
chr3133483998133484070E069-45524
chr3133484337133484387E069-45207
chr3133540603133541021E06911009
chr3133541191133541245E06911597
chr3133572273133572376E06942679
chr3133572430133572579E06942836
chr3133572588133572638E06942994
chr3133573215133573347E06943621
chr3133573885133574171E06944291
chr3133574725133574824E06945131
chr3133575303133575377E06945709
chr3133482923133483028E070-46566
chr3133483054133483594E070-46000
chr3133547093133547193E07017499
chr3133547516133547745E07017922
chr3133547924133548172E07018330
chr3133572273133572376E07042679
chr3133572430133572579E07042836
chr3133572588133572638E07042994
chr3133573215133573347E07043621
chr3133573885133574171E07044291
chr3133574725133574824E07045131
chr3133575303133575377E07045709
chr3133482562133482616E071-46978
chr3133482923133483028E071-46566
chr3133483054133483594E071-46000
chr3133483998133484070E071-45524
chr3133484337133484387E071-45207
chr3133540337133540417E07110743
chr3133572273133572376E07142679
chr3133572430133572579E07142836
chr3133572588133572638E07142994
chr3133573215133573347E07143621
chr3133573885133574171E07144291
chr3133574725133574824E07145131
chr3133482923133483028E072-46566
chr3133483054133483594E072-46000
chr3133483998133484070E072-45524
chr3133484337133484387E072-45207
chr3133573215133573347E07243621
chr3133573885133574171E07244291
chr3133574725133574824E07245131
chr3133482923133483028E073-46566
chr3133483054133483594E073-46000
chr3133540006133540074E07310412
chr3133540337133540417E07310743
chr3133540603133541021E07311009
chr3133541035133541081E07311441
chr3133541191133541245E07311597
chr3133572273133572376E07342679
chr3133573215133573347E07343621
chr3133573885133574171E07344291
chr3133574725133574824E07345131
chr3133575303133575377E07345709
chr3133482562133482616E074-46978
chr3133482923133483028E074-46566
chr3133483054133483594E074-46000
chr3133483998133484070E074-45524
chr3133484337133484387E074-45207
chr3133540006133540074E07410412
chr3133540337133540417E07410743
chr3133540603133541021E07411009
chr3133541035133541081E07411441
chr3133541191133541245E07411597
chr3133541431133541497E07411837
chr3133541623133541762E07412029
chr3133541910133541964E07412316
chr3133572430133572579E07442836
chr3133572588133572638E07442994
chr3133573215133573347E07443621
chr3133573885133574171E07444291
chr3133574725133574824E07445131
chr3133526132133526214E081-3380
chr3133572273133572376E08142679
chr3133573215133573347E08143621
chr3133573885133574171E08144291
chr3133574725133574824E08145131
chr3133547516133547745E08217922
chr3133547924133548172E08218330
chr3133548284133548391E08218690
chr3133572273133572376E08242679
chr3133572430133572579E08242836
chr3133572588133572638E08242994
chr3133573215133573347E08243621
chr3133573885133574171E08244291
chr3133574725133574824E08245131
chr3133575303133575377E08245709










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E067-4044
chr3133525588133525634E067-3960
chr3133524082133525550E068-4044
chr3133525588133525634E068-3960
chr3133524082133525550E069-4044
chr3133524082133525550E070-4044
chr3133525588133525634E070-3960
chr3133524082133525550E071-4044
chr3133525588133525634E071-3960
chr3133524082133525550E072-4044
chr3133525588133525634E072-3960
chr3133524082133525550E073-4044
chr3133525588133525634E073-3960
chr3133524082133525550E074-4044
chr3133525588133525634E074-3960
chr3133524082133525550E081-4044
chr3133525588133525634E081-3960
chr3133524082133525550E082-4044
chr3133525588133525634E082-3960