rs6787177

Homo sapiens
C>T
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0373 (11170/29910,GnomAD)
T=0391 (11392/29118,TOPMED)
T=0438 (2193/5008,1000G)
T=0338 (1301/3854,ALSPAC)
T=0322 (1193/3708,TWINSUK)
chr3:133731876 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
71 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133731876C>T
GRCh37.p13 chr 3NC_000003.11:g.133450720C>T

Gene: TF, transferrin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TF transcript variant 1NM_001063.3:c.N/AGenic Upstream Transcript 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
1000GenomesAfricanSub1322C=0.566T=0.434
1000GenomesAmericanSub694C=0.580T=0.420
1000GenomesEast AsianSub1008C=0.529T=0.471
1000GenomesEuropeSub1006C=0.663T=0.337
1000GenomesGlobalStudy-wide5008C=0.562T=0.438
1000GenomesSouth AsianSub978C=0.480T=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.662T=0.338
The Genome Aggregation DatabaseAfricanSub8700C=0.552T=0.448
The Genome Aggregation DatabaseAmericanSub836C=0.520T=0.480
The Genome Aggregation DatabaseEast AsianSub1606C=0.549T=0.451
The Genome Aggregation DatabaseEuropeSub18466C=0.671T=0.328
The Genome Aggregation DatabaseGlobalStudy-wide29910C=0.626T=0.373
The Genome Aggregation DatabaseOtherSub302C=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.608T=0.391
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.678T=0.322
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
rs67871771.29E-12alcohol consumption21665994

eQTL of rs6787177 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 rs6787177 in Fetal Brain

Probe ID Position Gene beta p-value
cg01448562chr3:133502909-0.05244299910630285.1322e-19
cg08048268chr3:133502702-0.1162323678558445.1631e-18
cg16275903chr3:133524006SRPRB0.05014347200770513.0841e-16
cg16414030chr3:133502952-0.07515643796634295.9687e-16
cg08439880chr3:133502540-0.0640897491866933.7328e-15
cg11941060chr3:133502564-0.05458305427091228.3251e-13
cg20276088chr3:133502917-0.02839950659200079.8671e-12

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 )
chr3133431016133431089E067-19631
chr3133436424133436504E067-14216
chr3133461397133461916E06710677
chr3133461945133462055E06711225
chr3133464069133464119E06713349
chr3133464448133464526E06713728
chr3133482923133483028E06732203
chr3133483054133483594E06732334
chr3133483998133484070E06733278
chr3133436424133436504E068-14216
chr3133464069133464119E06813349
chr3133482562133482616E06831842
chr3133482923133483028E06832203
chr3133483054133483594E06832334
chr3133431016133431089E069-19631
chr3133436424133436504E069-14216
chr3133461397133461916E06910677
chr3133461945133462055E06911225
chr3133464069133464119E06913349
chr3133473014133473073E06922294
chr3133473315133473659E06922595
chr3133476260133476458E06925540
chr3133482562133482616E06931842
chr3133482923133483028E06932203
chr3133483054133483594E06932334
chr3133483998133484070E06933278
chr3133484337133484387E06933617
chr3133482923133483028E07032203
chr3133483054133483594E07032334
chr3133431016133431089E071-19631
chr3133436424133436504E071-14216
chr3133461397133461916E07110677
chr3133461945133462055E07111225
chr3133464069133464119E07113349
chr3133473014133473073E07122294
chr3133473315133473659E07122595
chr3133482562133482616E07131842
chr3133482923133483028E07132203
chr3133483054133483594E07132334
chr3133483998133484070E07133278
chr3133484337133484387E07133617
chr3133431016133431089E072-19631
chr3133461397133461916E07210677
chr3133461945133462055E07211225
chr3133464069133464119E07213349
chr3133464448133464526E07213728
chr3133473014133473073E07222294
chr3133482923133483028E07232203
chr3133483054133483594E07232334
chr3133483998133484070E07233278
chr3133484337133484387E07233617
chr3133436424133436504E073-14216
chr3133461397133461916E07310677
chr3133461945133462055E07311225
chr3133464448133464526E07313728
chr3133482923133483028E07332203
chr3133483054133483594E07332334
chr3133431016133431089E074-19631
chr3133436424133436504E074-14216
chr3133461397133461916E07410677
chr3133461945133462055E07411225
chr3133464069133464119E07413349
chr3133473014133473073E07422294
chr3133473315133473659E07422595
chr3133476260133476458E07425540
chr3133482562133482616E07431842
chr3133482923133483028E07432203
chr3133483054133483594E07432334
chr3133483998133484070E07433278
chr3133484337133484387E07433617
chr3133464448133464526E08213728









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E06714255
chr3133465195133465439E06714475
chr3133465691133465761E06714971
chr3133468272133468322E06717552
chr3133464975133465152E06814255
chr3133465195133465439E06814475
chr3133465691133465761E06814971
chr3133468272133468322E06817552
chr3133464975133465152E06914255
chr3133465195133465439E06914475
chr3133465691133465761E06914971
chr3133468272133468322E06917552
chr3133465195133465439E07014475
chr3133464975133465152E07114255
chr3133465195133465439E07114475
chr3133465691133465761E07114971
chr3133468272133468322E07117552
chr3133464975133465152E07214255
chr3133465195133465439E07214475
chr3133465691133465761E07214971
chr3133468272133468322E07217552
chr3133464975133465152E07314255
chr3133465195133465439E07314475
chr3133465691133465761E07314971
chr3133468272133468322E07317552
chr3133464975133465152E07414255
chr3133465195133465439E07414475
chr3133465691133465761E07414971
chr3133468272133468322E07417552
chr3133464975133465152E08114255
chr3133464975133465152E08214255
chr3133465195133465439E08214475