rs4854760

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0343 (10285/29940,GnomAD)
G=0360 (10509/29118,TOPMED)
G=0382 (1914/5008,1000G)
G=0331 (1276/3854,ALSPAC)
G=0334 (1238/3708,TWINSUK)
chr3:133779897 (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.133779897A>G
GRCh37.p13 chr 3NC_000003.11:g.133498741A>G
TF RefSeqGeneNG_013080.1:g.38765A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.656G=0.344
1000GenomesAmericanSub694A=0.590G=0.410
1000GenomesEast AsianSub1008A=0.578G=0.422
1000GenomesEuropeSub1006A=0.654G=0.346
1000GenomesGlobalStudy-wide5008A=0.618G=0.382
1000GenomesSouth AsianSub978A=0.590G=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.669G=0.331
The Genome Aggregation DatabaseAfricanSub8704A=0.639G=0.361
The Genome Aggregation DatabaseAmericanSub832A=0.530G=0.470
The Genome Aggregation DatabaseEast AsianSub1612A=0.603G=0.397
The Genome Aggregation DatabaseEuropeSub18490A=0.673G=0.327
The Genome Aggregation DatabaseGlobalStudy-wide29940A=0.656G=0.343
The Genome Aggregation DatabaseOtherSub302A=0.760G=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.639G=0.360
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.666G=0.334
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
rs48547601.14E-12alcohol consumption21665994

eQTL of rs4854760 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 rs4854760 in Fetal Brain

Probe ID Position Gene beta p-value
cg08048268chr3:133502702-0.1531687515121851.4245e-31
cg16414030chr3:133502952-0.1013748394343616.3691e-29
cg01448562chr3:133502909-0.06504550498460762.6447e-28
cg16275903chr3:133524006SRPRB0.06040662764545047.5724e-22
cg08439880chr3:133502540-0.07627318556938561.2029e-19
cg11941060chr3:133502564-0.06946454460214974.1502e-19
cg20276088chr3:133502917-0.03713249809956552.0247e-18

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 )
chr3133461397133461916E067-36825
chr3133461945133462055E067-36686
chr3133464069133464119E067-34622
chr3133464448133464526E067-34215
chr3133482923133483028E067-15713
chr3133483054133483594E067-15147
chr3133483998133484070E067-14671
chr3133464069133464119E068-34622
chr3133482562133482616E068-16125
chr3133482923133483028E068-15713
chr3133483054133483594E068-15147
chr3133461397133461916E069-36825
chr3133461945133462055E069-36686
chr3133464069133464119E069-34622
chr3133473014133473073E069-25668
chr3133473315133473659E069-25082
chr3133476260133476458E069-22283
chr3133482562133482616E069-16125
chr3133482923133483028E069-15713
chr3133483054133483594E069-15147
chr3133483998133484070E069-14671
chr3133484337133484387E069-14354
chr3133540603133541021E06941862
chr3133541191133541245E06942450
chr3133482923133483028E070-15713
chr3133483054133483594E070-15147
chr3133547093133547193E07048352
chr3133547516133547745E07048775
chr3133547924133548172E07049183
chr3133461397133461916E071-36825
chr3133461945133462055E071-36686
chr3133464069133464119E071-34622
chr3133473014133473073E071-25668
chr3133473315133473659E071-25082
chr3133482562133482616E071-16125
chr3133482923133483028E071-15713
chr3133483054133483594E071-15147
chr3133483998133484070E071-14671
chr3133484337133484387E071-14354
chr3133540337133540417E07141596
chr3133461397133461916E072-36825
chr3133461945133462055E072-36686
chr3133464069133464119E072-34622
chr3133464448133464526E072-34215
chr3133473014133473073E072-25668
chr3133482923133483028E072-15713
chr3133483054133483594E072-15147
chr3133483998133484070E072-14671
chr3133484337133484387E072-14354
chr3133461397133461916E073-36825
chr3133461945133462055E073-36686
chr3133464448133464526E073-34215
chr3133482923133483028E073-15713
chr3133483054133483594E073-15147
chr3133540006133540074E07341265
chr3133540337133540417E07341596
chr3133540603133541021E07341862
chr3133541035133541081E07342294
chr3133541191133541245E07342450
chr3133461397133461916E074-36825
chr3133461945133462055E074-36686
chr3133464069133464119E074-34622
chr3133473014133473073E074-25668
chr3133473315133473659E074-25082
chr3133476260133476458E074-22283
chr3133482562133482616E074-16125
chr3133482923133483028E074-15713
chr3133483054133483594E074-15147
chr3133483998133484070E074-14671
chr3133484337133484387E074-14354
chr3133540006133540074E07441265
chr3133540337133540417E07441596
chr3133540603133541021E07441862
chr3133541035133541081E07442294
chr3133541191133541245E07442450
chr3133541431133541497E07442690
chr3133541623133541762E07442882
chr3133541910133541964E07443169
chr3133526132133526214E08127391
chr3133464448133464526E082-34215
chr3133547516133547745E08248775
chr3133547924133548172E08249183
chr3133548284133548391E08249543










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-33589
chr3133465195133465439E067-33302
chr3133465691133465761E067-32980
chr3133468272133468322E067-30419
chr3133524082133525550E06725341
chr3133525588133525634E06726847
chr3133464975133465152E068-33589
chr3133465195133465439E068-33302
chr3133465691133465761E068-32980
chr3133468272133468322E068-30419
chr3133524082133525550E06825341
chr3133525588133525634E06826847
chr3133464975133465152E069-33589
chr3133465195133465439E069-33302
chr3133465691133465761E069-32980
chr3133468272133468322E069-30419
chr3133524082133525550E06925341
chr3133465195133465439E070-33302
chr3133524082133525550E07025341
chr3133525588133525634E07026847
chr3133464975133465152E071-33589
chr3133465195133465439E071-33302
chr3133465691133465761E071-32980
chr3133468272133468322E071-30419
chr3133524082133525550E07125341
chr3133525588133525634E07126847
chr3133464975133465152E072-33589
chr3133465195133465439E072-33302
chr3133465691133465761E072-32980
chr3133468272133468322E072-30419
chr3133524082133525550E07225341
chr3133525588133525634E07226847
chr3133464975133465152E073-33589
chr3133465195133465439E073-33302
chr3133465691133465761E073-32980
chr3133468272133468322E073-30419
chr3133524082133525550E07325341
chr3133525588133525634E07326847
chr3133464975133465152E074-33589
chr3133465195133465439E074-33302
chr3133465691133465761E074-32980
chr3133468272133468322E074-30419
chr3133524082133525550E07425341
chr3133525588133525634E07426847
chr3133464975133465152E081-33589
chr3133524082133525550E08125341
chr3133525588133525634E08126847
chr3133464975133465152E082-33589
chr3133465195133465439E082-33302
chr3133524082133525550E08225341
chr3133525588133525634E08226847