Variant report

Variant	esv2297792
Chromosome Location	chr10:116312251-116312252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116229710..116232429-chr10:116312044..116314451,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 68 )

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	rs566952826	chr10:116312251-116312252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116305000-116317600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr10:116305200-116316000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:116305200-116318200	Weak transcription	Fetal Intestine Large	intestine
4	chr10:116307600-116313400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:116307600-116316000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:116307800-116317600	Weak transcription	Fetal Intestine Small	intestine
7	chr10:116308600-116312600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr10:116308600-116313200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:116308600-116315800	Weak transcription	HepG2	liver
10	chr10:116308800-116313200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:116309000-116316400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:116310600-116313000	Enhancers	Fetal Muscle Leg	muscle
13	chr10:116310800-116312400	Enhancers	Psoas Muscle	Psoas
14	chr10:116310800-116312400	Enhancers	Stomach Mucosa	stomach
15	chr10:116310800-116317400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr10:116311000-116312400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:116311000-116312600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr10:116311000-116314000	Weak transcription	Aorta	Aorta
19	chr10:116311000-116317400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:116311000-116331400	Weak transcription	Fetal Brain Male	brain
21	chr10:116311600-116312600	Enhancers	Liver	Liver
22	chr10:116311600-116312800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr10:116311600-116336600	Weak transcription	Colonic Mucosa	Colon
24	chr10:116311800-116312400	Enhancers	Fetal Lung	lung
25	chr10:116311800-116312400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr10:116311800-116312400	Enhancers	Stomach Smooth Muscle	stomach
27	chr10:116311800-116312400	Enhancers	HSMM	muscle
28	chr10:116311800-116312800	Weak transcription	Colon Smooth Muscle	Colon
29	chr10:116311800-116313400	Weak transcription	Brain Angular Gyrus	brain
30	chr10:116311800-116317800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:116312000-116312800	Weak transcription	Brain Anterior Caudate	brain
32	chr10:116312000-116312800	Weak transcription	Left Ventricle	heart
33	chr10:116312000-116312800	Weak transcription	Right Ventricle	heart
34	chr10:116312000-116313400	Weak transcription	Brain Substantia Nigra	brain
35	chr10:116312000-116313400	Weak transcription	Right Atrium	heart
36	chr10:116312000-116313400	Enhancers	HSMMtube	muscle
37	chr10:116312000-116316800	Weak transcription	Lung	lung
38	chr10:116312000-116317200	Enhancers	Fetal Heart	heart
39	chr10:116312000-116324800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr10:116312000-116331000	Weak transcription	Ovary	ovary
41	chr10:116312000-116334600	Weak transcription	Esophagus	oesophagus
42	chr10:116312000-116335000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr10:116312000-116335200	Weak transcription	Pancreas	Pancrea
44	chr10:116312200-116312400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr10:116312200-116315800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr10:116312200-116317600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:116312200-116330800	Weak transcription	Adipose Nuclei	Adipose

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