Variant report

Variant	rs13266879
Chromosome Location	chr8:62676146-62676147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62653602..62655933-chr8:62675000..62677702,2	K562	blood:
2	chr8:62674722..62676651-chr8:62683722..62685414,2	K562	blood:
3	chr8:62675951..62679045-chr8:63950013..63952575,3	K562	blood:
4	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
5	chr8:62625526..62627428-chr8:62673582..62676409,2	MCF-7	breast:
6	chr8:62675193..62676843-chr8:62690905..62693820,2	K562	blood:
7	chr8:62616378..62628548-chr8:62667442..62677691,25	K562	blood:
8	chr8:62675249..62677916-chr8:62678109..62679621,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198363	Chromatin interaction
ENSG00000251127	Chromatin interaction
ENSG00000264408	Chromatin interaction
ENSG00000137563	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10112867	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783343	0.83[MEX][hapmap];0.84[TSI][hapmap]
rs11786133	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs13264781	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1874219	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs28449872	0.93[EUR][1000 genomes]
rs4322003	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4628254	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7002414	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13266879	KRT23	trans	cerebellum	SCAN
rs13266879	YTHDF3	cis	cerebellum	SCAN
rs13266879	BHLHE22	cis	cerebellum	SCAN
rs13266879	ASPH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62672000-62676200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:62672000-62676600	Enhancers	NHDF-Ad	bronchial
3	chr8:62672800-62679400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:62673000-62677000	Enhancers	HepG2	liver
5	chr8:62673400-62676200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:62673600-62678400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:62673600-62678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:62673600-62678600	Weak transcription	Fetal Lung	lung
9	chr8:62673800-62677200	Enhancers	K562	blood
10	chr8:62674200-62678400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:62674200-62679200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:62674200-62679400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:62674400-62681600	Enhancers	Hela-S3	cervix
14	chr8:62674600-62678400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:62674600-62679200	Weak transcription	NH-A	brain
16	chr8:62674800-62676800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:62675000-62676400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:62675000-62679000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:62675200-62678400	Weak transcription	NHLF	lung
20	chr8:62675200-62678800	Weak transcription	Osteobl	bone
21	chr8:62675200-62679400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:62675400-62679400	Weak transcription	HMEC	breast
23	chr8:62675400-62679400	Weak transcription	NHEK	skin
24	chr8:62675800-62677000	Genic enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links