Variant report

Variant	esv3448369
Chromosome Location	chr9:92911582-92918980
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	chr9:92918798..92921681-chr9:92947393..92950211,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549061352	chr9:92911601-92911602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs371365682	chr9:92911639-92911640	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs114079059	chr9:92911640-92911641	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs34989448	chr9:92911677-92911678	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557968831	chr9:92911688-92911689	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571447233	chr9:92911711-92911712	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs138307574	chr9:92911763-92911764	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs537217714	chr9:92911839-92911840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114697313	chr9:92911848-92911849	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs7859452	chr9:92911851-92911852	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143077127	chr9:92911885-92911886	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs556833249	chr9:92911890-92911891	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs552682351	chr9:92911907-92911908	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs28495955	chr9:92911915-92911916	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544755387	chr9:92911916-92911917	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs185549076	chr9:92911920-92911921	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs377446468	chr9:92911922-92911923	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539129109	chr9:92911923-92911924	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371724360	chr9:92911939-92911940	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs376432571	chr9:92911945-92911946	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs190886853	chr9:92911946-92911947	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531731417	chr9:92911948-92911949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs28741023	chr9:92911958-92911959	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372652615	chr9:92911966-92911967	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs549399268	chr9:92911975-92911976	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs182604462	chr9:92911977-92911978	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150284770	chr9:92911978-92911979	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs138218076	chr9:92911989-92911990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs143696562	chr9:92912024-92912025	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs373806689	chr9:92912039-92912040	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537244161	chr9:92912047-92912048	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs10481718	chr9:92912051-92912052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369169697	chr9:92912058-92912059	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567604130	chr9:92912067-92912068	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536139105	chr9:92912081-92912082	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552959357	chr9:92912092-92912093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs368734650	chr9:92912105-92912106	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs10481719	chr9:92912118-92912119	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574994437	chr9:92912138-92912139	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs10481720	chr9:92912171-92912172	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574946702	chr9:92912179-92912180	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370829476	chr9:92912180-92912181	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs140197710	chr9:92918005-92918006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374630527	chr9:92918009-92918010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112522594	chr9:92918051-92918052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372413880	chr9:92918122-92918123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs385634	chr9:92918134-92918135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183539215	chr9:92918144-92918145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537412191	chr9:92918156-92918157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12377039	chr9:92918181-92918182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92911600-92912200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr9:92911800-92912200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:92918000-92921000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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