rs6439443

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0373 (11160/29872,GnomAD)
T==0333 (9699/29118,TOPMED)
T==0312 (1563/5008,1000G)
T==0470 (1811/3854,ALSPAC)
T==0465 (1723/3708,TWINSUK)
chr3:133822071 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
120 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133822071T>C
GRCh37.p13 chr 3NC_000003.11:g.133540915T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.139C=0.861
1000GenomesAmericanSub694T=0.360C=0.640
1000GenomesEast AsianSub1008T=0.274C=0.726
1000GenomesEuropeSub1006T=0.488C=0.512
1000GenomesGlobalStudy-wide5008T=0.312C=0.688
1000GenomesSouth AsianSub978T=0.370C=0.630
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.470C=0.530
The Genome Aggregation DatabaseAfricanSub8698T=0.172C=0.828
The Genome Aggregation DatabaseAmericanSub832T=0.330C=0.670
The Genome Aggregation DatabaseEast AsianSub1614T=0.286C=0.714
The Genome Aggregation DatabaseEuropeSub18426T=0.477C=0.522
The Genome Aggregation DatabaseGlobalStudy-wide29872T=0.373C=0.626
The Genome Aggregation DatabaseOtherSub302T=0.430C=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.333C=0.666
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.465C=0.535
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
rs64394436.52E-07alcohol consumption21665994

eQTL of rs6439443 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 rs6439443 in Fetal Brain

Probe ID Position Gene beta p-value
cg27366882chr3:1335408070.06174492045462647.3129e-11

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 )
chr3133562885133562960E06721970
chr3133573215133573347E06732300
chr3133573885133574171E06732970
chr3133574725133574824E06733810
chr3133575303133575377E06734388
chr3133584047133584242E06743132
chr3133587242133587401E06746327
chr3133587644133588157E06746729
chr3133588170133588246E06747255
chr3133590458133590539E06749543
chr3133572273133572376E06831358
chr3133572430133572579E06831515
chr3133572588133572638E06831673
chr3133573215133573347E06832300
chr3133573885133574171E06832970
chr3133574725133574824E06833810
chr3133575303133575377E06834388
chr3133584047133584242E06843132
chr3133587242133587401E06846327
chr3133587644133588157E06846729
chr3133588170133588246E06847255
chr3133590458133590539E06849543
chr3133540603133541021E0690
chr3133541191133541245E069276
chr3133572273133572376E06931358
chr3133572430133572579E06931515
chr3133572588133572638E06931673
chr3133573215133573347E06932300
chr3133573885133574171E06932970
chr3133574725133574824E06933810
chr3133575303133575377E06934388
chr3133584047133584242E06943132
chr3133587242133587401E06946327
chr3133587644133588157E06946729
chr3133588170133588246E06947255
chr3133590458133590539E06949543
chr3133547093133547193E0706178
chr3133547516133547745E0706601
chr3133547924133548172E0707009
chr3133572273133572376E07031358
chr3133572430133572579E07031515
chr3133572588133572638E07031673
chr3133573215133573347E07032300
chr3133573885133574171E07032970
chr3133574725133574824E07033810
chr3133575303133575377E07034388
chr3133587242133587401E07046327
chr3133587644133588157E07046729
chr3133540337133540417E071-498
chr3133572273133572376E07131358
chr3133572430133572579E07131515
chr3133572588133572638E07131673
chr3133573215133573347E07132300
chr3133573885133574171E07132970
chr3133574725133574824E07133810
chr3133582903133583150E07141988
chr3133584047133584242E07143132
chr3133587242133587401E07146327
chr3133587644133588157E07146729
chr3133588170133588246E07147255
chr3133573215133573347E07232300
chr3133573885133574171E07232970
chr3133574725133574824E07233810
chr3133582298133582380E07241383
chr3133584047133584242E07243132
chr3133587242133587401E07246327
chr3133587644133588157E07246729
chr3133588170133588246E07247255
chr3133590458133590539E07249543
chr3133540006133540074E073-841
chr3133540337133540417E073-498
chr3133540603133541021E0730
chr3133541035133541081E073120
chr3133541191133541245E073276
chr3133572273133572376E07331358
chr3133573215133573347E07332300
chr3133573885133574171E07332970
chr3133574725133574824E07333810
chr3133575303133575377E07334388
chr3133584047133584242E07343132
chr3133587242133587401E07346327
chr3133587644133588157E07346729
chr3133588170133588246E07347255
chr3133590458133590539E07349543
chr3133540006133540074E074-841
chr3133540337133540417E074-498
chr3133540603133541021E0740
chr3133541035133541081E074120
chr3133541191133541245E074276
chr3133541431133541497E074516
chr3133541623133541762E074708
chr3133541910133541964E074995
chr3133572430133572579E07431515
chr3133572588133572638E07431673
chr3133573215133573347E07432300
chr3133573885133574171E07432970
chr3133574725133574824E07433810
chr3133587242133587401E07446327
chr3133587644133588157E07446729
chr3133588170133588246E07447255
chr3133526132133526214E081-14701
chr3133572273133572376E08131358
chr3133573215133573347E08132300
chr3133573885133574171E08132970
chr3133574725133574824E08133810
chr3133587242133587401E08146327
chr3133588170133588246E08147255
chr3133547516133547745E0826601
chr3133547924133548172E0827009
chr3133548284133548391E0827369
chr3133572273133572376E08231358
chr3133572430133572579E08231515
chr3133572588133572638E08231673
chr3133573215133573347E08232300
chr3133573885133574171E08232970
chr3133574725133574824E08233810
chr3133575303133575377E08234388
chr3133587242133587401E08246327
chr3133587644133588157E08246729
chr3133588170133588246E08247255










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E067-15365
chr3133525588133525634E067-15281
chr3133524082133525550E068-15365
chr3133525588133525634E068-15281
chr3133524082133525550E069-15365
chr3133524082133525550E070-15365
chr3133525588133525634E070-15281
chr3133524082133525550E071-15365
chr3133525588133525634E071-15281
chr3133524082133525550E072-15365
chr3133525588133525634E072-15281
chr3133524082133525550E073-15365
chr3133525588133525634E073-15281
chr3133524082133525550E074-15365
chr3133525588133525634E074-15281
chr3133524082133525550E081-15365
chr3133525588133525634E081-15281
chr3133524082133525550E082-15365
chr3133525588133525634E082-15281