rs9843728

Homo sapiens
C>T
SRPRB : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0370 (11050/29804,GnomAD)
T=0400 (11667/29118,TOPMED)
T=0408 (2041/5008,1000G)
T=0347 (1337/3854,ALSPAC)
T=0347 (1285/3708,TWINSUK)
chr3:133782563 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
83 Enhancers around
51 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133782563C>T
GRCh37.p13 chr 3NC_000003.11:g.133501407C>T

Gene: SRPRB, SRP receptor beta subunit(plus strand): 2KB Upstream Variant

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.574T=0.426
1000GenomesAmericanSub694C=0.570T=0.430
1000GenomesEast AsianSub1008C=0.575T=0.425
1000GenomesEuropeSub1006C=0.646T=0.354
1000GenomesGlobalStudy-wide5008C=0.592T=0.408
1000GenomesSouth AsianSub978C=0.600T=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.653T=0.347
The Genome Aggregation DatabaseAfricanSub8668C=0.566T=0.434
The Genome Aggregation DatabaseAmericanSub834C=0.520T=0.480
The Genome Aggregation DatabaseEast AsianSub1620C=0.602T=0.398
The Genome Aggregation DatabaseEuropeSub18380C=0.664T=0.335
The Genome Aggregation DatabaseGlobalStudy-wide29804C=0.629T=0.370
The Genome Aggregation DatabaseOtherSub302C=0.760T=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.599T=0.400
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.653T=0.347
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
rs98437282.09E-12alcohol consumption21665994

eQTL of rs9843728 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 rs9843728 in Fetal Brain

Probe ID Position Gene beta p-value
cg01448562chr3:133502909-0.06494937074833412.8198e-31
cg08048268chr3:133502702-0.1461080542305261.5629e-30
cg16414030chr3:133502952-0.09856364697034321.4118e-29
cg16275903chr3:133524006SRPRB0.06464288001048068.3257e-29
cg11941060chr3:133502564-0.06965747974419615.4805e-21
cg20276088chr3:133502917-0.03779443817899115.8918e-21
cg08439880chr3:133502540-0.07546862229481856.7795e-21

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 )
chr3133461397133461916E067-39491
chr3133461945133462055E067-39352
chr3133464069133464119E067-37288
chr3133464448133464526E067-36881
chr3133482923133483028E067-18379
chr3133483054133483594E067-17813
chr3133483998133484070E067-17337
chr3133464069133464119E068-37288
chr3133482562133482616E068-18791
chr3133482923133483028E068-18379
chr3133483054133483594E068-17813
chr3133461397133461916E069-39491
chr3133461945133462055E069-39352
chr3133464069133464119E069-37288
chr3133473014133473073E069-28334
chr3133473315133473659E069-27748
chr3133476260133476458E069-24949
chr3133482562133482616E069-18791
chr3133482923133483028E069-18379
chr3133483054133483594E069-17813
chr3133483998133484070E069-17337
chr3133484337133484387E069-17020
chr3133540603133541021E06939196
chr3133541191133541245E06939784
chr3133482923133483028E070-18379
chr3133483054133483594E070-17813
chr3133547093133547193E07045686
chr3133547516133547745E07046109
chr3133547924133548172E07046517
chr3133461397133461916E071-39491
chr3133461945133462055E071-39352
chr3133464069133464119E071-37288
chr3133473014133473073E071-28334
chr3133473315133473659E071-27748
chr3133482562133482616E071-18791
chr3133482923133483028E071-18379
chr3133483054133483594E071-17813
chr3133483998133484070E071-17337
chr3133484337133484387E071-17020
chr3133540337133540417E07138930
chr3133461397133461916E072-39491
chr3133461945133462055E072-39352
chr3133464069133464119E072-37288
chr3133464448133464526E072-36881
chr3133473014133473073E072-28334
chr3133482923133483028E072-18379
chr3133483054133483594E072-17813
chr3133483998133484070E072-17337
chr3133484337133484387E072-17020
chr3133461397133461916E073-39491
chr3133461945133462055E073-39352
chr3133464448133464526E073-36881
chr3133482923133483028E073-18379
chr3133483054133483594E073-17813
chr3133540006133540074E07338599
chr3133540337133540417E07338930
chr3133540603133541021E07339196
chr3133541035133541081E07339628
chr3133541191133541245E07339784
chr3133461397133461916E074-39491
chr3133461945133462055E074-39352
chr3133464069133464119E074-37288
chr3133473014133473073E074-28334
chr3133473315133473659E074-27748
chr3133476260133476458E074-24949
chr3133482562133482616E074-18791
chr3133482923133483028E074-18379
chr3133483054133483594E074-17813
chr3133483998133484070E074-17337
chr3133484337133484387E074-17020
chr3133540006133540074E07438599
chr3133540337133540417E07438930
chr3133540603133541021E07439196
chr3133541035133541081E07439628
chr3133541191133541245E07439784
chr3133541431133541497E07440024
chr3133541623133541762E07440216
chr3133541910133541964E07440503
chr3133526132133526214E08124725
chr3133464448133464526E082-36881
chr3133547516133547745E08246109
chr3133547924133548172E08246517
chr3133548284133548391E08246877










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-36255
chr3133465195133465439E067-35968
chr3133465691133465761E067-35646
chr3133468272133468322E067-33085
chr3133524082133525550E06722675
chr3133525588133525634E06724181
chr3133464975133465152E068-36255
chr3133465195133465439E068-35968
chr3133465691133465761E068-35646
chr3133468272133468322E068-33085
chr3133524082133525550E06822675
chr3133525588133525634E06824181
chr3133464975133465152E069-36255
chr3133465195133465439E069-35968
chr3133465691133465761E069-35646
chr3133468272133468322E069-33085
chr3133524082133525550E06922675
chr3133465195133465439E070-35968
chr3133524082133525550E07022675
chr3133525588133525634E07024181
chr3133464975133465152E071-36255
chr3133465195133465439E071-35968
chr3133465691133465761E071-35646
chr3133468272133468322E071-33085
chr3133524082133525550E07122675
chr3133525588133525634E07124181
chr3133464975133465152E072-36255
chr3133465195133465439E072-35968
chr3133465691133465761E072-35646
chr3133468272133468322E072-33085
chr3133524082133525550E07222675
chr3133525588133525634E07224181
chr3133464975133465152E073-36255
chr3133465195133465439E073-35968
chr3133465691133465761E073-35646
chr3133468272133468322E073-33085
chr3133524082133525550E07322675
chr3133525588133525634E07324181
chr3133464975133465152E074-36255
chr3133465195133465439E074-35968
chr3133465691133465761E074-35646
chr3133468272133468322E074-33085
chr3133524082133525550E07422675
chr3133525588133525634E07424181
chr3133464975133465152E081-36255
chr3133524082133525550E08122675
chr3133525588133525634E08124181
chr3133464975133465152E082-36255
chr3133465195133465439E082-35968
chr3133524082133525550E08222675
chr3133525588133525634E08224181