rs3817524

Homo sapiens
C>T
SRPRB : Intron Variant
LOC105374116 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0373 (11143/29876,GnomAD)
T=0370 (10800/29118,TOPMED)
T=0317 (1589/5008,1000G)
T=0387 (1491/3854,ALSPAC)
T=0383 (1422/3708,TWINSUK)
chr3:133807559 (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.133807559C>T
GRCh37.p13 chr 3NC_000003.11:g.133526403C>T

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

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

Gene: LOC105374116, uncharacterized LOC105374116(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105374116 transcript variant X1XR_924512.2:n.N/AUpstream Transcript Variant
LOC105374116 transcript variant X2XR_924513.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.613T=0.387
1000GenomesAmericanSub694C=0.670T=0.330
1000GenomesEast AsianSub1008C=0.762T=0.238
1000GenomesEuropeSub1006C=0.653T=0.347
1000GenomesGlobalStudy-wide5008C=0.683T=0.317
1000GenomesSouth AsianSub978C=0.740T=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.613T=0.387
The Genome Aggregation DatabaseAfricanSub8710C=0.588T=0.412
The Genome Aggregation DatabaseAmericanSub834C=0.720T=0.280
The Genome Aggregation DatabaseEast AsianSub1616C=0.774T=0.226
The Genome Aggregation DatabaseEuropeSub18418C=0.629T=0.370
The Genome Aggregation DatabaseGlobalStudy-wide29876C=0.627T=0.373
The Genome Aggregation DatabaseOtherSub298C=0.540T=0.460
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.629T=0.370
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.617T=0.383
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
rs38175241.18E-28alcohol consumption21665994

eQTL of rs3817524 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 rs3817524 in Fetal Brain

Probe ID Position Gene beta p-value
cg11941060chr3:1335025640.05105948552605152.4225e-9
cg16275903chr3:133524006SRPRB-0.04176617648373823.1401e-9
cg08048268chr3:1335027020.09116566301851125.6368e-9

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 )
chr3133482923133483028E067-43375
chr3133483054133483594E067-42809
chr3133483998133484070E067-42333
chr3133562885133562960E06736482
chr3133573215133573347E06746812
chr3133573885133574171E06747482
chr3133574725133574824E06748322
chr3133575303133575377E06748900
chr3133482562133482616E068-43787
chr3133482923133483028E068-43375
chr3133483054133483594E068-42809
chr3133572273133572376E06845870
chr3133572430133572579E06846027
chr3133572588133572638E06846185
chr3133573215133573347E06846812
chr3133573885133574171E06847482
chr3133574725133574824E06848322
chr3133575303133575377E06848900
chr3133482562133482616E069-43787
chr3133482923133483028E069-43375
chr3133483054133483594E069-42809
chr3133483998133484070E069-42333
chr3133484337133484387E069-42016
chr3133540603133541021E06914200
chr3133541191133541245E06914788
chr3133572273133572376E06945870
chr3133572430133572579E06946027
chr3133572588133572638E06946185
chr3133573215133573347E06946812
chr3133573885133574171E06947482
chr3133574725133574824E06948322
chr3133575303133575377E06948900
chr3133482923133483028E070-43375
chr3133483054133483594E070-42809
chr3133547093133547193E07020690
chr3133547516133547745E07021113
chr3133547924133548172E07021521
chr3133572273133572376E07045870
chr3133572430133572579E07046027
chr3133572588133572638E07046185
chr3133573215133573347E07046812
chr3133573885133574171E07047482
chr3133574725133574824E07048322
chr3133575303133575377E07048900
chr3133482562133482616E071-43787
chr3133482923133483028E071-43375
chr3133483054133483594E071-42809
chr3133483998133484070E071-42333
chr3133484337133484387E071-42016
chr3133540337133540417E07113934
chr3133572273133572376E07145870
chr3133572430133572579E07146027
chr3133572588133572638E07146185
chr3133573215133573347E07146812
chr3133573885133574171E07147482
chr3133574725133574824E07148322
chr3133482923133483028E072-43375
chr3133483054133483594E072-42809
chr3133483998133484070E072-42333
chr3133484337133484387E072-42016
chr3133573215133573347E07246812
chr3133573885133574171E07247482
chr3133574725133574824E07248322
chr3133482923133483028E073-43375
chr3133483054133483594E073-42809
chr3133540006133540074E07313603
chr3133540337133540417E07313934
chr3133540603133541021E07314200
chr3133541035133541081E07314632
chr3133541191133541245E07314788
chr3133572273133572376E07345870
chr3133573215133573347E07346812
chr3133573885133574171E07347482
chr3133574725133574824E07348322
chr3133575303133575377E07348900
chr3133482562133482616E074-43787
chr3133482923133483028E074-43375
chr3133483054133483594E074-42809
chr3133483998133484070E074-42333
chr3133484337133484387E074-42016
chr3133540006133540074E07413603
chr3133540337133540417E07413934
chr3133540603133541021E07414200
chr3133541035133541081E07414632
chr3133541191133541245E07414788
chr3133541431133541497E07415028
chr3133541623133541762E07415220
chr3133541910133541964E07415507
chr3133572430133572579E07446027
chr3133572588133572638E07446185
chr3133573215133573347E07446812
chr3133573885133574171E07447482
chr3133574725133574824E07448322
chr3133526132133526214E081-189
chr3133572273133572376E08145870
chr3133573215133573347E08146812
chr3133573885133574171E08147482
chr3133574725133574824E08148322
chr3133547516133547745E08221113
chr3133547924133548172E08221521
chr3133548284133548391E08221881
chr3133572273133572376E08245870
chr3133572430133572579E08246027
chr3133572588133572638E08246185
chr3133573215133573347E08246812
chr3133573885133574171E08247482
chr3133574725133574824E08248322
chr3133575303133575377E08248900










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E067-853
chr3133525588133525634E067-769
chr3133524082133525550E068-853
chr3133525588133525634E068-769
chr3133524082133525550E069-853
chr3133524082133525550E070-853
chr3133525588133525634E070-769
chr3133524082133525550E071-853
chr3133525588133525634E071-769
chr3133524082133525550E072-853
chr3133525588133525634E072-769
chr3133524082133525550E073-853
chr3133525588133525634E073-769
chr3133524082133525550E074-853
chr3133525588133525634E074-769
chr3133524082133525550E081-853
chr3133525588133525634E081-769
chr3133524082133525550E082-853
chr3133525588133525634E082-769