Variant report

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

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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv1811811	chr2:234633964-234709430	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

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Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234664800-234671000	Enhancers	Fetal Intestine Small	intestine
2	chr2:234665600-234670800	Enhancers	Fetal Intestine Large	intestine
3	chr2:234666800-234673600	Weak transcription	Colonic Mucosa	Colon
4	chr2:234667200-234672400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:234667200-234673800	Enhancers	Stomach Mucosa	stomach
6	chr2:234668600-234672200	Weak transcription	Small Intestine	intestine
7	chr2:234668800-234670600	Enhancers	A549	lung
8	chr2:234669200-234670600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:234669200-234670800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:234669200-234671000	Enhancers	HMEC	breast
11	chr2:234669200-234671600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:234669200-234683800	Weak transcription	Gastric	stomach
13	chr2:234669400-234670600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:234669600-234671600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:234669800-234671600	Active TSS	Duodenum Mucosa	Duodenum
16	chr2:234669800-234673200	Active TSS	Liver	Liver
17	chr2:234670000-234670600	Flanking Active TSS	NHEK	skin
18	chr2:234670000-234670600	Enhancers	Osteobl	bone
19	chr2:234670200-234670600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:234670200-234673000	Weak transcription	Esophagus	oesophagus
21	chr2:234670400-234670600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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