rs17310413

Homo sapiens
T>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0153 (4597/29954,GnomAD)
G=0142 (4151/29118,TOPMED)
G=0103 (517/5008,1000G)
G=0197 (758/3854,ALSPAC)
G=0200 (740/3708,TWINSUK)
chr3:133823117 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
126 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133823117T>G
GRCh37.p13 chr 3NC_000003.11:g.133541961T>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.886G=0.114
1000GenomesAmericanSub694T=0.890G=0.110
1000GenomesEast AsianSub1008T=0.964G=0.036
1000GenomesEuropeSub1006T=0.846G=0.154
1000GenomesGlobalStudy-wide5008T=0.897G=0.103
1000GenomesSouth AsianSub978T=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.803G=0.197
The Genome Aggregation DatabaseAfricanSub8726T=0.877G=0.123
The Genome Aggregation DatabaseAmericanSub834T=0.900G=0.100
The Genome Aggregation DatabaseEast AsianSub1620T=0.957G=0.043
The Genome Aggregation DatabaseEuropeSub18472T=0.820G=0.179
The Genome Aggregation DatabaseGlobalStudy-wide29954T=0.846G=0.153
The Genome Aggregation DatabaseOtherSub302T=0.810G=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.857G=0.142
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.800G=0.200
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
rs173104133.25E-20alcohol consumption21665994

eQTL of rs17310413 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 rs17310413 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 )
chr3133562885133562960E06720924
chr3133573215133573347E06731254
chr3133573885133574171E06731924
chr3133574725133574824E06732764
chr3133575303133575377E06733342
chr3133584047133584242E06742086
chr3133587242133587401E06745281
chr3133587644133588157E06745683
chr3133588170133588246E06746209
chr3133590458133590539E06748497
chr3133591508133591609E06749547
chr3133572273133572376E06830312
chr3133572430133572579E06830469
chr3133572588133572638E06830627
chr3133573215133573347E06831254
chr3133573885133574171E06831924
chr3133574725133574824E06832764
chr3133575303133575377E06833342
chr3133584047133584242E06842086
chr3133587242133587401E06845281
chr3133587644133588157E06845683
chr3133588170133588246E06846209
chr3133590458133590539E06848497
chr3133591508133591609E06849547
chr3133540603133541021E069-940
chr3133541191133541245E069-716
chr3133572273133572376E06930312
chr3133572430133572579E06930469
chr3133572588133572638E06930627
chr3133573215133573347E06931254
chr3133573885133574171E06931924
chr3133574725133574824E06932764
chr3133575303133575377E06933342
chr3133584047133584242E06942086
chr3133587242133587401E06945281
chr3133587644133588157E06945683
chr3133588170133588246E06946209
chr3133590458133590539E06948497
chr3133591508133591609E06949547
chr3133547093133547193E0705132
chr3133547516133547745E0705555
chr3133547924133548172E0705963
chr3133572273133572376E07030312
chr3133572430133572579E07030469
chr3133572588133572638E07030627
chr3133573215133573347E07031254
chr3133573885133574171E07031924
chr3133574725133574824E07032764
chr3133575303133575377E07033342
chr3133587242133587401E07045281
chr3133587644133588157E07045683
chr3133540337133540417E071-1544
chr3133572273133572376E07130312
chr3133572430133572579E07130469
chr3133572588133572638E07130627
chr3133573215133573347E07131254
chr3133573885133574171E07131924
chr3133574725133574824E07132764
chr3133582903133583150E07140942
chr3133584047133584242E07142086
chr3133587242133587401E07145281
chr3133587644133588157E07145683
chr3133588170133588246E07146209
chr3133573215133573347E07231254
chr3133573885133574171E07231924
chr3133574725133574824E07232764
chr3133582298133582380E07240337
chr3133584047133584242E07242086
chr3133587242133587401E07245281
chr3133587644133588157E07245683
chr3133588170133588246E07246209
chr3133590458133590539E07248497
chr3133591508133591609E07249547
chr3133540006133540074E073-1887
chr3133540337133540417E073-1544
chr3133540603133541021E073-940
chr3133541035133541081E073-880
chr3133541191133541245E073-716
chr3133572273133572376E07330312
chr3133573215133573347E07331254
chr3133573885133574171E07331924
chr3133574725133574824E07332764
chr3133575303133575377E07333342
chr3133584047133584242E07342086
chr3133587242133587401E07345281
chr3133587644133588157E07345683
chr3133588170133588246E07346209
chr3133590458133590539E07348497
chr3133591508133591609E07349547
chr3133540006133540074E074-1887
chr3133540337133540417E074-1544
chr3133540603133541021E074-940
chr3133541035133541081E074-880
chr3133541191133541245E074-716
chr3133541431133541497E074-464
chr3133541623133541762E074-199
chr3133541910133541964E0740
chr3133572430133572579E07430469
chr3133572588133572638E07430627
chr3133573215133573347E07431254
chr3133573885133574171E07431924
chr3133574725133574824E07432764
chr3133587242133587401E07445281
chr3133587644133588157E07445683
chr3133588170133588246E07446209
chr3133526132133526214E081-15747
chr3133572273133572376E08130312
chr3133573215133573347E08131254
chr3133573885133574171E08131924
chr3133574725133574824E08132764
chr3133587242133587401E08145281
chr3133588170133588246E08146209
chr3133591508133591609E08149547
chr3133547516133547745E0825555
chr3133547924133548172E0825963
chr3133548284133548391E0826323
chr3133572273133572376E08230312
chr3133572430133572579E08230469
chr3133572588133572638E08230627
chr3133573215133573347E08231254
chr3133573885133574171E08231924
chr3133574725133574824E08232764
chr3133575303133575377E08233342
chr3133587242133587401E08245281
chr3133587644133588157E08245683
chr3133588170133588246E08246209










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E067-16411
chr3133525588133525634E067-16327
chr3133524082133525550E068-16411
chr3133525588133525634E068-16327
chr3133524082133525550E069-16411
chr3133524082133525550E070-16411
chr3133525588133525634E070-16327
chr3133524082133525550E071-16411
chr3133525588133525634E071-16327
chr3133524082133525550E072-16411
chr3133525588133525634E072-16327
chr3133524082133525550E073-16411
chr3133525588133525634E073-16327
chr3133524082133525550E074-16411
chr3133525588133525634E074-16327
chr3133524082133525550E081-16411
chr3133525588133525634E081-16327
chr3133524082133525550E082-16411
chr3133525588133525634E082-16327