Variant report

Variant	rs13275357
Chromosome Location	chr8:62676530-62676531
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr8:62675193..62676843-chr8:62690905..62693820,2	K562	blood:
6	chr8:62616378..62628548-chr8:62667442..62677691,25	K562	blood:
7	chr8:62675249..62677916-chr8:62678109..62679621,2	MCF-7	breast:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10504333	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13248406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249337	0.81[GIH][hapmap]
rs13252124	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13258801	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13262020	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];0.88[MKK][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13266959	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13277217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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

No data

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

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

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