Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117950391..117953601-chr8:117955778..117958546,3	K562	blood:
2	chr8:117950391..117953152-chr8:117955778..117958546,2	K562	blood:

Variant related genes	Relation type
ENSG00000205002	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10429430	0.87[JPT][hapmap]
rs12542825	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs12675339	0.87[JPT][hapmap]
rs13269147	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs1596895	1.00[CEU][hapmap];0.96[JPT][hapmap]
rs17745041	0.87[JPT][hapmap]
rs1995581	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2047962	0.86[JPT][hapmap]
rs2047963	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2921721	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2921722	1.00[CEU][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes]
rs3019879	0.87[JPT][hapmap]
rs3019886	0.82[CHB][hapmap];0.96[JPT][hapmap]
rs3020107	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3020108	1.00[CEU][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes]
rs3020110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3020114	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs3020115	1.00[CEU][hapmap];0.96[JPT][hapmap];0.93[EUR][1000 genomes]
rs3020116	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs4242567	0.82[CHB][hapmap];0.96[JPT][hapmap]
rs4242568	0.82[CHB][hapmap];0.96[JPT][hapmap]
rs4269571	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4510896	0.82[CHB][hapmap];0.96[JPT][hapmap]
rs6469667	0.87[JPT][hapmap]
rs6469668	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6987643	0.86[JPT][hapmap]
rs7842705	0.82[CHB][hapmap];0.96[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891409	chr8:117948986-117972064	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117951000-117957600	Weak transcription	Pancreas	Pancrea
2	chr8:117951200-117962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:117953800-117958200	Weak transcription	Psoas Muscle	Psoas
4	chr8:117954200-117957400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:117954600-117957600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:117956400-117958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:117956800-117957800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:117957200-117958800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:117957200-117958800	Enhancers	Fetal Lung	lung
10	chr8:117957200-117961200	Enhancers	Colon Smooth Muscle	Colon

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