Variant report

Variant	rs572806230
Chromosome Location	chr2:56149030-56149031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3430118	chr2:56147911-56152306	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56129200-56150200	Weak transcription	Pancreas	Pancrea
2	chr2:56137400-56149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:56138800-56149600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
4	chr2:56142200-56149800	Weak transcription	Gastric	stomach
5	chr2:56142400-56149400	Weak transcription	Right Ventricle	heart
6	chr2:56142600-56149200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:56143800-56150400	Weak transcription	Spleen	Spleen
8	chr2:56144000-56149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:56144800-56149600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:56145000-56149400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:56145000-56149400	Weak transcription	Fetal Stomach	stomach
12	chr2:56145200-56149400	Weak transcription	Lung	lung
13	chr2:56146200-56149400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:56146200-56149400	Weak transcription	Brain Substantia Nigra	brain
15	chr2:56146400-56149400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:56146800-56149200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:56146800-56150000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:56147000-56149400	Weak transcription	A549	lung
19	chr2:56147400-56149200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:56147400-56149800	Transcr. at gene 5' and 3'	Osteobl	bone
21	chr2:56147400-56151400	Active TSS	Aorta	Aorta
22	chr2:56148400-56149400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:56148600-56149600	Active TSS	Placenta	Placenta
24	chr2:56148600-56149800	Flanking Active TSS	NHEK	skin
25	chr2:56148600-56151400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr2:56148600-56151600	Active TSS	Right Atrium	heart
27	chr2:56148800-56149200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr2:56148800-56149200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:56148800-56149400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:56148800-56149400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:56148800-56151400	Active TSS	Brain Anterior Caudate	brain
32	chr2:56149000-56149200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr2:56149000-56149200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
34	chr2:56149000-56149200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr2:56149000-56149200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr2:56149000-56149200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr2:56149000-56149200	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr2:56149000-56149200	Active TSS	Fetal Kidney	kidney
39	chr2:56149000-56149200	Genic enhancers	HSMM	muscle
40	chr2:56149000-56149200	Active TSS	NHLF	lung
41	chr2:56149000-56149400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:56149000-56149400	Enhancers	Fetal Lung	lung
43	chr2:56149000-56149400	Enhancers	HMEC	breast
44	chr2:56149000-56149400	Flanking Active TSS	NH-A	brain
45	chr2:56149000-56149800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr2:56149000-56149800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:56149000-56150000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr2:56149000-56151200	Active TSS	Colon Smooth Muscle	Colon
49	chr2:56149000-56151400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:56149000-56151400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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