Variant report

Variant	nsv520809
Chromosome Location	chr9:104904232-104921712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146754557	chr9:104904647-104904648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529147994	chr9:104904648-104904649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140454187	chr9:104904665-104904666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533520104	chr9:104904683-104904684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547705072	chr9:104904687-104904688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143226478	chr9:104904698-104904699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560615740	chr9:104904706-104904707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528932547	chr9:104904789-104904790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548676685	chr9:104904823-104904824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55781627	chr9:104904843-104904844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs151257308	chr9:104904862-104904863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140454535	chr9:104904940-104904941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571111540	chr9:104904981-104904982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533707349	chr9:104904989-104904990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537111802	chr9:104915601-104915602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs200873760	chr9:104915604-104915605	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs576920087	chr9:104915605-104915606	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs546089960	chr9:104915609-104915610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs552982924	chr9:104915627-104915628	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572156712	chr9:104915638-104915639	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192931	chr9:104915669-104915670	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188537822	chr9:104915672-104915673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181341247	chr9:104915687-104915688	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs567196295	chr9:104915694-104915695	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs58460494	chr9:104915695-104915696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192930	chr9:104915698-104915699	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563916369	chr9:104915699-104915700	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs532585159	chr9:104915708-104915709	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144087235	chr9:104915709-104915710	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185120657	chr9:104915715-104915716	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs552817697	chr9:104915733-104915734	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568034864	chr9:104915748-104915749	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs537156364	chr9:104915756-104915757	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs189872941	chr9:104915760-104915761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs570928691	chr9:104915765-104915766	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs570667277	chr9:104915774-104915775	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536930206	chr9:104915782-104915783	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs539253720	chr9:104915789-104915790	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs148684102	chr9:104915791-104915792	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs572787352	chr9:104915805-104915806	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs373944129	chr9:104915846-104915847	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs113482372	chr9:104915863-104915864	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs144550154	chr9:104915879-104915880	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs368672125	chr9:104915889-104915890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs556243886	chr9:104915890-104915891	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs574451761	chr9:104915899-104915900	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs543936775	chr9:104915904-104915905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs370726115	chr9:104915914-104915915	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs563182239	chr9:104915917-104915918	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556247223	chr9:104915946-104915947	Active TSS	n/a	n/a	Overlapped CNVs	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104904600-104905000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr9:104915600-104916000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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