Variant report

Variant	esv3502350
Chromosome Location	chr10:21753294-21753807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 35 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558077059	chr10:21753294-21753295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552986921	chr10:21753350-21753351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565521098	chr10:21753382-21753383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534945766	chr10:21753401-21753402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149056692	chr10:21753408-21753409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10082426	chr10:21753443-21753444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537004337	chr10:21753454-21753455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557494002	chr10:21753455-21753456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11290865	chr10:21753460-21753461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34200658	chr10:21753471-21753472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397847302	chr10:21753478-21753479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143136300	chr10:21753553-21753554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146711178	chr10:21753613-21753614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140425775	chr10:21753640-21753641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145521347	chr10:21753691-21753692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545708009	chr10:21753697-21753698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188102339	chr10:21753710-21753711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10082390	chr10:21753727-21753728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75728336	chr10:21753790-21753791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562933428	chr10:21753804-21753805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:35)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21738600-21762000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:21751400-21753400	Enhancers	Fetal Muscle Trunk	muscle
3	chr10:21752400-21754000	Enhancers	Placenta	Placenta
4	chr10:21752600-21753600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:21752600-21753800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr10:21752600-21754000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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