rs17376019

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0110 (3298/29922,GnomAD)
T=0097 (2849/29118,TOPMED)
T=0078 (389/5008,1000G)
T=0154 (592/3854,ALSPAC)
T=0163 (606/3708,TWINSUK)
chr3:133822039 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133822039C>T
GRCh37.p13 chr 3NC_000003.11:g.133540883C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.930T=0.070
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.965T=0.035
1000GenomesEuropeSub1006C=0.881T=0.119
1000GenomesGlobalStudy-wide5008C=0.922T=0.078
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.846T=0.154
The Genome Aggregation DatabaseAfricanSub8708C=0.930T=0.070
The Genome Aggregation DatabaseAmericanSub838C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1620C=0.958T=0.042
The Genome Aggregation DatabaseEuropeSub18454C=0.864T=0.135
The Genome Aggregation DatabaseGlobalStudy-wide29922C=0.889T=0.110
The Genome Aggregation DatabaseOtherSub302C=0.810T=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.902T=0.097
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.837T=0.163
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
rs173760198.05E-24alcohol consumption21665994

eQTL of rs17376019 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 rs17376019 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 )
chr3133562885133562960E06722002
chr3133573215133573347E06732332
chr3133573885133574171E06733002
chr3133574725133574824E06733842
chr3133575303133575377E06734420
chr3133584047133584242E06743164
chr3133587242133587401E06746359
chr3133587644133588157E06746761
chr3133588170133588246E06747287
chr3133590458133590539E06749575
chr3133572273133572376E06831390
chr3133572430133572579E06831547
chr3133572588133572638E06831705
chr3133573215133573347E06832332
chr3133573885133574171E06833002
chr3133574725133574824E06833842
chr3133575303133575377E06834420
chr3133584047133584242E06843164
chr3133587242133587401E06846359
chr3133587644133588157E06846761
chr3133588170133588246E06847287
chr3133590458133590539E06849575
chr3133540603133541021E0690
chr3133541191133541245E069308
chr3133572273133572376E06931390
chr3133572430133572579E06931547
chr3133572588133572638E06931705
chr3133573215133573347E06932332
chr3133573885133574171E06933002
chr3133574725133574824E06933842
chr3133575303133575377E06934420
chr3133584047133584242E06943164
chr3133587242133587401E06946359
chr3133587644133588157E06946761
chr3133588170133588246E06947287
chr3133590458133590539E06949575
chr3133547093133547193E0706210
chr3133547516133547745E0706633
chr3133547924133548172E0707041
chr3133572273133572376E07031390
chr3133572430133572579E07031547
chr3133572588133572638E07031705
chr3133573215133573347E07032332
chr3133573885133574171E07033002
chr3133574725133574824E07033842
chr3133575303133575377E07034420
chr3133587242133587401E07046359
chr3133587644133588157E07046761
chr3133540337133540417E071-466
chr3133572273133572376E07131390
chr3133572430133572579E07131547
chr3133572588133572638E07131705
chr3133573215133573347E07132332
chr3133573885133574171E07133002
chr3133574725133574824E07133842
chr3133582903133583150E07142020
chr3133584047133584242E07143164
chr3133587242133587401E07146359
chr3133587644133588157E07146761
chr3133588170133588246E07147287
chr3133573215133573347E07232332
chr3133573885133574171E07233002
chr3133574725133574824E07233842
chr3133582298133582380E07241415
chr3133584047133584242E07243164
chr3133587242133587401E07246359
chr3133587644133588157E07246761
chr3133588170133588246E07247287
chr3133590458133590539E07249575
chr3133540006133540074E073-809
chr3133540337133540417E073-466
chr3133540603133541021E0730
chr3133541035133541081E073152
chr3133541191133541245E073308
chr3133572273133572376E07331390
chr3133573215133573347E07332332
chr3133573885133574171E07333002
chr3133574725133574824E07333842
chr3133575303133575377E07334420
chr3133584047133584242E07343164
chr3133587242133587401E07346359
chr3133587644133588157E07346761
chr3133588170133588246E07347287
chr3133590458133590539E07349575
chr3133540006133540074E074-809
chr3133540337133540417E074-466
chr3133540603133541021E0740
chr3133541035133541081E074152
chr3133541191133541245E074308
chr3133541431133541497E074548
chr3133541623133541762E074740
chr3133541910133541964E0741027
chr3133572430133572579E07431547
chr3133572588133572638E07431705
chr3133573215133573347E07432332
chr3133573885133574171E07433002
chr3133574725133574824E07433842
chr3133587242133587401E07446359
chr3133587644133588157E07446761
chr3133588170133588246E07447287
chr3133526132133526214E081-14669
chr3133572273133572376E08131390
chr3133573215133573347E08132332
chr3133573885133574171E08133002
chr3133574725133574824E08133842
chr3133587242133587401E08146359
chr3133588170133588246E08147287
chr3133547516133547745E0826633
chr3133547924133548172E0827041
chr3133548284133548391E0827401
chr3133572273133572376E08231390
chr3133572430133572579E08231547
chr3133572588133572638E08231705
chr3133573215133573347E08232332
chr3133573885133574171E08233002
chr3133574725133574824E08233842
chr3133575303133575377E08234420
chr3133587242133587401E08246359
chr3133587644133588157E08246761
chr3133588170133588246E08247287










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E067-15333
chr3133525588133525634E067-15249
chr3133524082133525550E068-15333
chr3133525588133525634E068-15249
chr3133524082133525550E069-15333
chr3133524082133525550E070-15333
chr3133525588133525634E070-15249
chr3133524082133525550E071-15333
chr3133525588133525634E071-15249
chr3133524082133525550E072-15333
chr3133525588133525634E072-15249
chr3133524082133525550E073-15333
chr3133525588133525634E073-15249
chr3133524082133525550E074-15333
chr3133525588133525634E074-15249
chr3133524082133525550E081-15333
chr3133525588133525634E081-15249
chr3133524082133525550E082-15333
chr3133525588133525634E082-15249