Variant report

Variant	rs111270829
Chromosome Location	chr2:114081652-114081653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv2762785	chr2:114044712-114081784	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
5	nsv10129	chr2:114080875-114082808	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114064600-114082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:114079600-114081800	Weak transcription	Esophagus	oesophagus
3	chr2:114080400-114082000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:114080600-114081800	Weak transcription	HSMMtube	muscle
5	chr2:114080600-114082000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:114080600-114082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:114080600-114082000	Enhancers	A549	lung
8	chr2:114080600-114082200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:114080600-114082200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:114080800-114081800	Enhancers	NHEK	skin
11	chr2:114080800-114082000	Enhancers	Fetal Brain Male	brain
12	chr2:114080800-114082200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:114081000-114082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:114081000-114082000	Enhancers	Fetal Lung	lung
15	chr2:114081000-114082200	Enhancers	Fetal Intestine Large	intestine
16	chr2:114081000-114082200	Enhancers	HMEC	breast
17	chr2:114081200-114081800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:114081200-114081800	Enhancers	NH-A	brain
19	chr2:114081200-114082000	Enhancers	Hela-S3	cervix
20	chr2:114081200-114082600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:114081400-114082000	Enhancers	Fetal Muscle Trunk	muscle
22	chr2:114081600-114081800	Enhancers	Fetal Brain Female	brain
23	chr2:114081600-114081800	Active TSS	Osteobl	bone
24	chr2:114081600-114082000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:114081600-114082000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:114081600-114082000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:114081600-114082000	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:114081600-114082000	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr2:114081600-114082000	Enhancers	Fetal Stomach	stomach
30	chr2:114081600-114082000	Bivalent Enhancer	HepG2	liver
31	chr2:114081600-114082000	Enhancers	NHDF-Ad	bronchial
32	chr2:114081600-114082200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:114081600-114082200	Enhancers	Fetal Intestine Small	intestine
34	chr2:114081600-114082200	Enhancers	Placenta	Placenta
35	chr2:114081600-114082400	Enhancers	Fetal Heart	heart
36	chr2:114081600-114082600	Enhancers	Lung	lung
37	chr2:114081600-114083400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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