rs9853615

Homo sapiens
A>G
SRPRB : Intron Variant
LOC105374116 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0339 (10157/29930,GnomAD)
G=0324 (9436/29118,TOPMED)
G=0288 (1443/5008,1000G)
G=0374 (1442/3854,ALSPAC)
G=0372 (1380/3708,TWINSUK)
chr3:133801137 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
62 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133801137A>G
GRCh37.p13 chr 3NC_000003.11:g.133519981A>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

Gene: LOC105374116, uncharacterized LOC105374116(minus strand)

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.694G=0.306
1000GenomesAmericanSub694A=0.700G=0.300
1000GenomesEast AsianSub1008A=0.763G=0.237
1000GenomesEuropeSub1006A=0.665G=0.335
1000GenomesGlobalStudy-wide5008A=0.712G=0.288
1000GenomesSouth AsianSub978A=0.740G=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.626G=0.374
The Genome Aggregation DatabaseAfricanSub8712A=0.681G=0.319
The Genome Aggregation DatabaseAmericanSub838A=0.750G=0.250
The Genome Aggregation DatabaseEast AsianSub1618A=0.776G=0.224
The Genome Aggregation DatabaseEuropeSub18460A=0.638G=0.361
The Genome Aggregation DatabaseGlobalStudy-wide29930A=0.660G=0.339
The Genome Aggregation DatabaseOtherSub302A=0.570G=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.675G=0.324
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.628G=0.372
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
rs98536156.28E-29alcohol consumption21665994

eQTL of rs9853615 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 rs9853615 in Fetal Brain

Probe ID Position Gene beta p-value
cg11941060chr3:1335025640.05991790632478222.1890e-12
cg16275903chr3:133524006SRPRB-0.04903088455565163.1093e-12
cg08048268chr3:1335027020.1082739523360593.7292e-12
cg01448562chr3:1335029090.04648276897319961.6427e-11
cg16414030chr3:1335029520.0702832259634525.3463e-11
cg08439880chr3:1335025400.05644871151690682.3485e-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 )
chr3133482923133483028E067-36953
chr3133483054133483594E067-36387
chr3133483998133484070E067-35911
chr3133562885133562960E06742904
chr3133482562133482616E068-37365
chr3133482923133483028E068-36953
chr3133483054133483594E068-36387
chr3133473014133473073E069-46908
chr3133473315133473659E069-46322
chr3133476260133476458E069-43523
chr3133482562133482616E069-37365
chr3133482923133483028E069-36953
chr3133483054133483594E069-36387
chr3133483998133484070E069-35911
chr3133484337133484387E069-35594
chr3133540603133541021E06920622
chr3133541191133541245E06921210
chr3133482923133483028E070-36953
chr3133483054133483594E070-36387
chr3133547093133547193E07027112
chr3133547516133547745E07027535
chr3133547924133548172E07027943
chr3133473014133473073E071-46908
chr3133473315133473659E071-46322
chr3133482562133482616E071-37365
chr3133482923133483028E071-36953
chr3133483054133483594E071-36387
chr3133483998133484070E071-35911
chr3133484337133484387E071-35594
chr3133540337133540417E07120356
chr3133473014133473073E072-46908
chr3133482923133483028E072-36953
chr3133483054133483594E072-36387
chr3133483998133484070E072-35911
chr3133484337133484387E072-35594
chr3133482923133483028E073-36953
chr3133483054133483594E073-36387
chr3133540006133540074E07320025
chr3133540337133540417E07320356
chr3133540603133541021E07320622
chr3133541035133541081E07321054
chr3133541191133541245E07321210
chr3133473014133473073E074-46908
chr3133473315133473659E074-46322
chr3133476260133476458E074-43523
chr3133482562133482616E074-37365
chr3133482923133483028E074-36953
chr3133483054133483594E074-36387
chr3133483998133484070E074-35911
chr3133484337133484387E074-35594
chr3133540006133540074E07420025
chr3133540337133540417E07420356
chr3133540603133541021E07420622
chr3133541035133541081E07421054
chr3133541191133541245E07421210
chr3133541431133541497E07421450
chr3133541623133541762E07421642
chr3133541910133541964E07421929
chr3133526132133526214E0816151
chr3133547516133547745E08227535
chr3133547924133548172E08227943
chr3133548284133548391E08228303










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E0674101
chr3133525588133525634E0675607
chr3133524082133525550E0684101
chr3133525588133525634E0685607
chr3133524082133525550E0694101
chr3133524082133525550E0704101
chr3133525588133525634E0705607
chr3133524082133525550E0714101
chr3133525588133525634E0715607
chr3133524082133525550E0724101
chr3133525588133525634E0725607
chr3133524082133525550E0734101
chr3133525588133525634E0735607
chr3133524082133525550E0744101
chr3133525588133525634E0745607
chr3133524082133525550E0814101
chr3133525588133525634E0815607
chr3133524082133525550E0824101
chr3133525588133525634E0825607