Variant report

Variant	esv3382238
Chromosome Location	chr10:1451960-1452360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570264481	chr10:1451979-1451980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183061840	chr10:1451984-1451985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555687158	chr10:1451999-1452000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374969840	chr10:1452000-1452001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184344519	chr10:1452006-1452007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs55881489	chr10:1452011-1452012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187396458	chr10:1452014-1452015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572075770	chr10:1452032-1452033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541059879	chr10:1452034-1452035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372835359	chr10:1452041-1452042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111582183	chr10:1452055-1452056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557753805	chr10:1452057-1452058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577638622	chr10:1452064-1452065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376285273	chr10:1452075-1452076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28552714	chr10:1452079-1452080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563324380	chr10:1452114-1452115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373984524	chr10:1452117-1452118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376857125	chr10:1452126-1452127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111765890	chr10:1452159-1452160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374989190	chr10:1452183-1452184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12413919	chr10:1452190-1452191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112513008	chr10:1452201-1452202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191846206	chr10:1452205-1452206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112090037	chr10:1452209-1452210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112447613	chr10:1452216-1452217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112154333	chr10:1452243-1452244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143349520	chr10:1452258-1452259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148359616	chr10:1452263-1452264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143294143	chr10:1452274-1452275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559643891	chr10:1452299-1452300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375543222	chr10:1452310-1452311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368546433	chr10:1452342-1452343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Breast cancer	21509527	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
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1443600-1456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:1450000-1453000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:1451200-1455200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:1451600-1455400	Enhancers	Dnd41	blood
5	chr10:1451800-1461600	Weak transcription	Gastric	stomach

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