Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:91214750-91215086	IMR90	lung:	n/a	chr10:91214927-91214948

Variant related genes	Relation type
ENSG00000234452	TF binding region

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10160034	1.00[JPT][hapmap]
rs1063943	1.00[JPT][hapmap]
rs11185734	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11185736	1.00[CEU][hapmap]
rs11203076	1.00[CEU][hapmap]
rs11203087	1.00[CEU][hapmap]
rs11203135	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs11203136	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs11203141	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11813257	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs12257062	1.00[CEU][hapmap]
rs1332334	1.00[CEU][hapmap]
rs1332338	1.00[CEU][hapmap]
rs17118228	1.00[CEU][hapmap]
rs17119791	1.00[JPT][hapmap]
rs17120040	1.00[CEU][hapmap]
rs17121936	1.00[CEU][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17481096	1.00[JPT][hapmap]
rs3740029	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs60496145	1.00[EUR][1000 genomes]
rs7077187	1.00[TSI][hapmap]
rs7080667	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7082073	1.00[CEU][hapmap]
rs7093054	1.00[CEU][hapmap]
rs7101353	1.00[CEU][hapmap]
rs7898580	1.00[CEU][hapmap]
rs7907230	1.00[CEU][hapmap]
rs7923948	1.00[CEU][hapmap]
rs9663530	1.00[CEU][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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91179600-91225600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr10:91198800-91223600	Weak transcription	Left Ventricle	heart
3	chr10:91212000-91216600	Weak transcription	HUVEC	blood vessel
4	chr10:91213000-91217800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:91214000-91223600	Weak transcription	Pancreas	Pancrea
6	chr10:91214200-91223400	Weak transcription	Placenta	Placenta
7	chr10:91214600-91215800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:91214600-91216000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:91214800-91216000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:91214800-91216000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:91214800-91216200	Enhancers	NHEK	skin
12	chr10:91215000-91217800	Weak transcription	HSMMtube	muscle

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