rs8177220

Homo sapiens
G>C / G>T
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0072 (2176/29968,GnomAD)
T=0063 (1856/29118,TOPMED)
T=0085 (424/5008,1000G)
T=0046 (178/3854,ALSPAC)
T=0038 (141/3708,TWINSUK)
chr3:133754781 (GRCh38.p7) (3q22.1)
AD
GWASdb2
2   publication(s)
See rs on genome
207 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133754781G>C
GRCh38.p7 chr 3NC_000003.12:g.133754781G>T
GRCh37.p13 chr 3NC_000003.11:g.133473625G>C
GRCh37.p13 chr 3NC_000003.11:g.133473625G>T
TF RefSeqGeneNG_013080.1:g.13649G>C
TF RefSeqGeneNG_013080.1:g.13649G>T

Gene: TF, transferrin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TF transcript variant 1NM_001063.3:c.N/AIntron Variant
TF transcript variant X1XM_017007089.1:c.N/AIntron Variant
TF transcript variant X2XM_017007090.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.891T=0.109
1000GenomesAmericanSub694G=0.950T=0.050
1000GenomesEast AsianSub1008G=0.948T=0.052
1000GenomesEuropeSub1006G=0.942T=0.058
1000GenomesGlobalStudy-wide5008G=0.915T=0.085
1000GenomesSouth AsianSub978G=0.860T=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.954T=0.046
The Genome Aggregation DatabaseAfricanSub8722G=0.903C=0.000
The Genome Aggregation DatabaseAmericanSub838G=0.960C=0.00,
The Genome Aggregation DatabaseEast AsianSub1620G=0.938C=0.000
The Genome Aggregation DatabaseEuropeSub18486G=0.930C=0.005
The Genome Aggregation DatabaseGlobalStudy-wide29968G=0.924C=0.003
The Genome Aggregation DatabaseOtherSub302G=0.940C=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.936T=0.063
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.962T=0.038
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet
23386860Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.Pasquale LRFront Genet

P-Value

SNP ID p-value Traits Study
rs81772201.33E-15alcohol consumption21665994

eQTL of rs8177220 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 rs8177220 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 )
chr3133562885133562960E0670
chr3133573215133573347E06710276
chr3133573885133574171E06710946
chr3133574725133574824E06711786
chr3133575303133575377E06712364
chr3133584047133584242E06721108
chr3133587242133587401E06724303
chr3133587644133588157E06724705
chr3133588170133588246E06725231
chr3133590458133590539E06727519
chr3133591508133591609E06728569
chr3133605430133605480E06742491
chr3133606068133606142E06743129
chr3133606609133606728E06743670
chr3133606737133606971E06743798
chr3133607051133607438E06744112
chr3133610595133610710E06747656
chr3133572273133572376E0689334
chr3133572430133572579E0689491
chr3133572588133572638E0689649
chr3133573215133573347E06810276
chr3133573885133574171E06810946
chr3133574725133574824E06811786
chr3133575303133575377E06812364
chr3133584047133584242E06821108
chr3133587242133587401E06824303
chr3133587644133588157E06824705
chr3133588170133588246E06825231
chr3133590458133590539E06827519
chr3133591508133591609E06828569
chr3133599175133599394E06836236
chr3133600933133601305E06837994
chr3133601479133601597E06838540
chr3133601946133602097E06839007
chr3133605430133605480E06842491
chr3133606068133606142E06843129
chr3133606609133606728E06843670
chr3133606737133606971E06843798
chr3133607051133607438E06844112
chr3133610324133610406E06847385
chr3133610434133610546E06847495
chr3133610595133610710E06847656
chr3133610769133610850E06847830
chr3133610942133611109E06848003
chr3133611135133611246E06848196
chr3133611394133611727E06848455
chr3133611918133612048E06848979
chr3133612068133612226E06849129
chr3133540603133541021E069-21918
chr3133541191133541245E069-21694
chr3133572273133572376E0699334
chr3133572430133572579E0699491
chr3133572588133572638E0699649
chr3133573215133573347E06910276
chr3133573885133574171E06910946
chr3133574725133574824E06911786
chr3133575303133575377E06912364
chr3133584047133584242E06921108
chr3133587242133587401E06924303
chr3133587644133588157E06924705
chr3133588170133588246E06925231
chr3133590458133590539E06927519
chr3133591508133591609E06928569
chr3133605430133605480E06942491
chr3133606068133606142E06943129
chr3133606609133606728E06943670
chr3133606737133606971E06943798
chr3133607051133607438E06944112
chr3133547093133547193E070-15746
chr3133547516133547745E070-15194
chr3133547924133548172E070-14767
chr3133572273133572376E0709334
chr3133572430133572579E0709491
chr3133572588133572638E0709649
chr3133573215133573347E07010276
chr3133573885133574171E07010946
chr3133574725133574824E07011786
chr3133575303133575377E07012364
chr3133587242133587401E07024303
chr3133587644133588157E07024705
chr3133606609133606728E07043670
chr3133606737133606971E07043798
chr3133607051133607438E07044112
chr3133610769133610850E07047830
chr3133610942133611109E07048003
chr3133611135133611246E07048196
chr3133611394133611727E07048455
chr3133611918133612048E07048979
chr3133612068133612226E07049129
chr3133540337133540417E071-22522
chr3133572273133572376E0719334
chr3133572430133572579E0719491
chr3133572588133572638E0719649
chr3133573215133573347E07110276
chr3133573885133574171E07110946
chr3133574725133574824E07111786
chr3133582903133583150E07119964
chr3133584047133584242E07121108
chr3133587242133587401E07124303
chr3133587644133588157E07124705
chr3133588170133588246E07125231
chr3133601946133602097E07139007
chr3133605430133605480E07142491
chr3133606609133606728E07143670
chr3133606737133606971E07143798
chr3133607051133607438E07144112
chr3133611394133611727E07148455
chr3133573215133573347E07210276
chr3133573885133574171E07210946
chr3133574725133574824E07211786
chr3133582298133582380E07219359
chr3133584047133584242E07221108
chr3133587242133587401E07224303
chr3133587644133588157E07224705
chr3133588170133588246E07225231
chr3133590458133590539E07227519
chr3133591508133591609E07228569
chr3133596301133596352E07233362
chr3133605430133605480E07242491
chr3133606068133606142E07243129
chr3133606609133606728E07243670
chr3133606737133606971E07243798
chr3133607051133607438E07244112
chr3133540006133540074E073-22865
chr3133540337133540417E073-22522
chr3133540603133541021E073-21918
chr3133541035133541081E073-21858
chr3133541191133541245E073-21694
chr3133572273133572376E0739334
chr3133573215133573347E07310276
chr3133573885133574171E07310946
chr3133574725133574824E07311786
chr3133575303133575377E07312364
chr3133584047133584242E07321108
chr3133587242133587401E07324303
chr3133587644133588157E07324705
chr3133588170133588246E07325231
chr3133590458133590539E07327519
chr3133591508133591609E07328569
chr3133606609133606728E07343670
chr3133606737133606971E07343798
chr3133607051133607438E07344112
chr3133540006133540074E074-22865
chr3133540337133540417E074-22522
chr3133540603133541021E074-21918
chr3133541035133541081E074-21858
chr3133541191133541245E074-21694
chr3133541431133541497E074-21442
chr3133541623133541762E074-21177
chr3133541910133541964E074-20975
chr3133572430133572579E0749491
chr3133572588133572638E0749649
chr3133573215133573347E07410276
chr3133573885133574171E07410946
chr3133574725133574824E07411786
chr3133587242133587401E07424303
chr3133587644133588157E07424705
chr3133588170133588246E07425231
chr3133599175133599394E07436236
chr3133601479133601597E07438540
chr3133601946133602097E07439007
chr3133606609133606728E07443670
chr3133606737133606971E07443798
chr3133607051133607438E07444112
chr3133611918133612048E07448979
chr3133612068133612226E07449129
chr3133526132133526214E081-36725
chr3133572273133572376E0819334
chr3133573215133573347E08110276
chr3133573885133574171E08110946
chr3133574725133574824E08111786
chr3133587242133587401E08124303
chr3133588170133588246E08125231
chr3133591508133591609E08128569
chr3133610324133610406E08147385
chr3133610434133610546E08147495
chr3133610595133610710E08147656
chr3133610769133610850E08147830
chr3133610942133611109E08148003
chr3133611135133611246E08148196
chr3133611394133611727E08148455
chr3133611918133612048E08148979
chr3133612068133612226E08149129
chr3133547516133547745E082-15194
chr3133547924133548172E082-14767
chr3133548284133548391E082-14548
chr3133572273133572376E0829334
chr3133572430133572579E0829491
chr3133572588133572638E0829649
chr3133573215133573347E08210276
chr3133573885133574171E08210946
chr3133574725133574824E08211786
chr3133575303133575377E08212364
chr3133587242133587401E08224303
chr3133587644133588157E08224705
chr3133588170133588246E08225231
chr3133606609133606728E08243670
chr3133606737133606971E08243798
chr3133610324133610406E08247385
chr3133610434133610546E08247495
chr3133610595133610710E08247656
chr3133610769133610850E08247830
chr3133610942133611109E08248003
chr3133611135133611246E08248196
chr3133611394133611727E08248455
chr3133611918133612048E08248979
chr3133612068133612226E08249129










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E067-37389
chr3133525588133525634E067-37305
chr3133524082133525550E068-37389
chr3133525588133525634E068-37305
chr3133524082133525550E069-37389
chr3133524082133525550E070-37389
chr3133525588133525634E070-37305
chr3133524082133525550E071-37389
chr3133525588133525634E071-37305
chr3133524082133525550E072-37389
chr3133525588133525634E072-37305
chr3133524082133525550E073-37389
chr3133525588133525634E073-37305
chr3133524082133525550E074-37389
chr3133525588133525634E074-37305
chr3133524082133525550E081-37389
chr3133525588133525634E081-37305
chr3133524082133525550E082-37389
chr3133525588133525634E082-37305