Variant report

Variant	esv1561870
Chromosome Location	chr10:5147498-5147522
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	chr10:5135730..5137727-chr10:5144800..5147673,2	K562	blood:
2	chr10:5135730..5138906-chr10:5144094..5147673,3	K562	blood:

Variant related genes	Relation type
ENSG00000196139	chromatin interactions
ENSG00000239142	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 53 )

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	rs199586693	chr10:5147499-5147500	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182987402	chr10:5147511-5147512	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs74112026	chr10:5147520-5147521	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5137200-5149800	Weak transcription	Small Intestine	intestine
2	chr10:5137400-5149400	Weak transcription	HSMM	muscle
3	chr10:5137400-5149600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr10:5137400-5149600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:5137400-5149800	Weak transcription	Pancreas	Pancrea
6	chr10:5137400-5151600	Weak transcription	Brain Angular Gyrus	brain
7	chr10:5137400-5151800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:5137400-5152000	Weak transcription	Right Ventricle	heart
9	chr10:5137600-5147800	Weak transcription	HMEC	breast
10	chr10:5137800-5150800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr10:5138200-5148400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr10:5138200-5151000	Weak transcription	Osteobl	bone
13	chr10:5138200-5151800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr10:5138600-5149200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:5138600-5149800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:5138600-5150200	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:5138600-5151800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr10:5138800-5147800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr10:5138800-5151800	Weak transcription	Brain Anterior Caudate	brain
20	chr10:5138800-5151800	Weak transcription	Colonic Mucosa	Colon
21	chr10:5138800-5152000	Weak transcription	Psoas Muscle	Psoas
22	chr10:5139000-5151600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr10:5140000-5148200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:5140200-5148200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:5140200-5150400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr10:5140800-5148600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:5140800-5149800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:5141800-5147800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:5142000-5147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:5142200-5148000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:5142600-5147800	Weak transcription	Left Ventricle	heart
32	chr10:5144400-5148000	Weak transcription	NHDF-Ad	bronchial
33	chr10:5145200-5151400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr10:5145400-5147800	Weak transcription	Lung	lung
35	chr10:5145600-5148400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:5145600-5148600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:5146000-5147600	Weak transcription	HepG2	liver
38	chr10:5146000-5147800	Weak transcription	Aorta	Aorta
39	chr10:5146000-5147800	Weak transcription	Ovary	ovary
40	chr10:5146000-5147800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr10:5146000-5147800	Weak transcription	Stomach Mucosa	stomach
42	chr10:5146000-5148000	Weak transcription	Gastric	stomach
43	chr10:5146000-5148000	Weak transcription	HSMMtube	muscle
44	chr10:5146000-5149600	Weak transcription	Thymus	Thymus
45	chr10:5146000-5150000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:5146000-5150400	Weak transcription	Fetal Intestine Small	intestine
47	chr10:5146000-5151600	Weak transcription	Hela-S3	cervix
48	chr10:5146000-5151800	Weak transcription	Esophagus	oesophagus
49	chr10:5146000-5157600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr10:5146200-5147600	Strong transcription	Adipose Nuclei	Adipose

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