Variant report

Variant	esv3375519
Chromosome Location	chr10:763604-764281
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	chr10:762176..765127-chr10:765238..767512,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201617406	chr10:763616-763617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71482853	chr10:763617-763618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199886963	chr10:763619-763620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200314776	chr10:763675-763676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544010990	chr10:763688-763689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71505884	chr10:763698-763699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12772911	chr10:763699-763700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12768599	chr10:763714-763715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs111964640	chr10:763738-763739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112252480	chr10:763746-763747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111759311	chr10:763755-763756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2993894	chr10:763768-763769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2993895	chr10:763769-763770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71482852	chr10:763775-763776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546355240	chr10:763777-763778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12768655	chr10:763784-763785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562974734	chr10:763789-763790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71482851	chr10:763791-763792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113089514	chr10:763808-763809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548745279	chr10:763816-763817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2993896	chr10:763818-763819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111821020	chr10:763825-763826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12779469	chr10:763845-763846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12768840	chr10:763847-763848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12768844	chr10:763854-763855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77136205	chr10:763859-763860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12773324	chr10:763861-763862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113634262	chr10:763878-763879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2993897	chr10:763888-763889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112602444	chr10:763895-763896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369785352	chr10:763915-763916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374036683	chr10:763917-763918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375453415	chr10:763924-763925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369851540	chr10:763929-763930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372735831	chr10:763931-763932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61831377	chr10:763948-763949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112846469	chr10:763965-763966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372151226	chr10:763969-763970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377572743	chr10:763978-763979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370804299	chr10:763994-763995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374655603	chr10:763999-764000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367658567	chr10:764001-764002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113884451	chr10:764018-764019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371495698	chr10:764028-764029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553378877	chr10:764031-764032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577450023	chr10:764038-764039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71482849	chr10:764055-764056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113573915	chr10:764088-764089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551493715	chr10:764105-764106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575815	chr10:764109-764110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:761000-768200	Weak transcription	Placenta	Placenta
2	chr10:761000-768400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:764200-764400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
4	chr10:764200-764600	Bivalent Enhancer	HepG2	liver

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