Variant report

Variant	esv2212910
Chromosome Location	chr20:25841746-25841747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 44 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557433967	chr20:25841746-25841747	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25838400-25842000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr20:25838400-25842200	ZNF genes & repeats	Dnd41	blood
3	chr20:25838600-25842000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr20:25839200-25842000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr20:25839400-25842000	Bivalent Enhancer	Placenta	Placenta
6	chr20:25839400-25842600	Enhancers	Fetal Heart	heart
7	chr20:25840000-25842000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr20:25840000-25842000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
9	chr20:25840000-25845000	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr20:25840200-25842000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:25840200-25842000	Bivalent Enhancer	Fetal Thymus	thymus
12	chr20:25840400-25842000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
13	chr20:25840400-25842800	Enhancers	Gastric	stomach
14	chr20:25840400-25844400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr20:25840400-25844400	Active TSS	Brain Angular Gyrus	brain
16	chr20:25840400-25844800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr20:25840600-25841800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:25840600-25841800	Bivalent Enhancer	Colonic Mucosa	Colon
19	chr20:25840600-25841800	Flanking Active TSS	Fetal Brain Female	brain
20	chr20:25840600-25842000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr20:25840800-25841800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr20:25840800-25841800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr20:25840800-25841800	Bivalent Enhancer	Fetal Brain Male	brain
24	chr20:25840800-25842000	Enhancers	Esophagus	oesophagus
25	chr20:25840800-25842000	Enhancers	Ovary	ovary
26	chr20:25840800-25842000	Enhancers	Pancreas	Pancrea
27	chr20:25840800-25842200	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr20:25841000-25841800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr20:25841000-25841800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr20:25841000-25841800	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr20:25841000-25842000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
32	chr20:25841000-25842000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr20:25841000-25842000	Weak transcription	Psoas Muscle	Psoas
34	chr20:25841000-25842000	Weak transcription	Right Atrium	heart
35	chr20:25841000-25842200	Enhancers	Liver	Liver
36	chr20:25841200-25841800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr20:25841200-25841800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr20:25841200-25841800	Active TSS	Brain Substantia Nigra	brain
39	chr20:25841200-25841800	Bivalent Enhancer	NHEK	skin
40	chr20:25841200-25842000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr20:25841200-25842000	Weak transcription	Left Ventricle	heart
42	chr20:25841200-25842600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr20:25841200-25842600	Active TSS	Right Ventricle	heart
44	chr20:25841200-25842800	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr20:25841400-25841800	Bivalent Enhancer	Primary T cells from cord blood	blood
46	chr20:25841400-25841800	Enhancers	Stomach Smooth Muscle	stomach
47	chr20:25841400-25841800	Weak transcription	HMEC	breast
48	chr20:25841400-25842000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr20:25841400-25842000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr20:25841400-25842000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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