rs3860498

Homo sapiens
T>A / T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0273 (8186/29934,GnomAD)
T==0225 (6565/29118,TOPMED)
T==0164 (823/5008,1000G)
T==0329 (1268/3854,ALSPAC)
T==0358 (1329/3708,TWINSUK)
chr3:133541672 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
20 Enhancers around
4 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133541672T>A
GRCh38.p7 chr 3NC_000003.12:g.133541672T>C
GRCh37.p13 chr 3NC_000003.11:g.133260516T>A
GRCh37.p13 chr 3NC_000003.11:g.133260516T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.083C=0.917
1000GenomesAmericanSub694T=0.240C=0.760
1000GenomesEast AsianSub1008T=0.103C=0.897
1000GenomesEuropeSub1006T=0.294C=0.706
1000GenomesGlobalStudy-wide5008T=0.164C=0.836
1000GenomesSouth AsianSub978T=0.150C=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.329C=0.671
The Genome Aggregation DatabaseAfricanSub8720T=0.122C=0.877
The Genome Aggregation DatabaseAmericanSub836T=0.190C=0.81,
The Genome Aggregation DatabaseEast AsianSub1616T=0.106C=0.894
The Genome Aggregation DatabaseEuropeSub18460T=0.362C=0.637
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.273C=0.726
The Genome Aggregation DatabaseOtherSub302T=0.340C=0.66,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.225C=0.774
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.358C=0.642
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
rs38604989.11E-07alcohol consumption21665994

eQTL of rs3860498 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 rs3860498 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 )
chr3118604007118604202E06719316
chr3118628684118628938E06743993
chr3118628684118628938E06943993
chr3118631128118631269E06946437
chr3118541286118541548E070-43143
chr3118594078118594132E0709387
chr3118604007118604202E07019316
chr3118604007118604202E07119316
chr3118608498118609939E07123807
chr3118609988118610068E07125297
chr3118628684118628938E07143993
chr3118628684118628938E07243993
chr3118536244118536294E073-48397
chr3118536340118536402E073-48289
chr3118627252118627405E07442561
chr3118628684118628938E07443993
chr3118599149118599397E08114458
chr3118598837118598928E08214146
chr3118599149118599397E08214458
chr3118627252118627405E08242561









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3118603591118603998E06818900
chr3118603591118603998E07118900
chr3118603591118603998E07218900
chr3118603591118603998E07318900