Variant report

rSNPs within LD-proxies of this variant (count:18)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1016368	chr5:52607736-52640986	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1027244	chr5:52631507-52644776	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52626000-52640000	Enhancers	HMEC	breast
2	chr5:52631600-52639000	Weak transcription	HSMM	muscle
3	chr5:52634000-52639600	Weak transcription	Esophagus	oesophagus
4	chr5:52634200-52639000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:52635000-52640200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:52635400-52639000	Weak transcription	Hela-S3	cervix
7	chr5:52635600-52640000	Enhancers	NHLF	lung
8	chr5:52636200-52638800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:52636200-52638800	Weak transcription	Osteobl	bone
10	chr5:52636400-52640000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:52636600-52640000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:52637000-52638800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:52637200-52640400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:52637400-52640200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:52637800-52638800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:52637800-52640000	Enhancers	NHDF-Ad	bronchial
17	chr5:52638000-52639600	Enhancers	Fetal Heart	heart
18	chr5:52638200-52639600	Enhancers	NHEK	skin
19	chr5:52638200-52640000	Enhancers	NH-A	brain
20	chr5:52638400-52640000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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