Variant report

Variant	nsv982627
Chromosome Location	chr9:105686139-105702035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377478440	chr9:105694618-105694619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562022770	chr9:105694643-105694644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572014014	chr9:105694656-105694657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147505995	chr9:105694671-105694672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560156788	chr9:105694684-105694685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530469438	chr9:105694690-105694691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543678336	chr9:105694692-105694693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12379549	chr9:105694698-105694699	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs540108945	chr9:105694704-105694705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551844083	chr9:105694707-105694708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35036669	chr9:105694831-105694832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565194378	chr9:105694850-105694851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527683170	chr9:105694855-105694856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186831906	chr9:105694860-105694861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73659643	chr9:105694886-105694887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115184761	chr9:105694914-105694915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192366434	chr9:105694963-105694964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550155094	chr9:105694985-105694986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10820312	chr9:105695022-105695023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs75580699	chr9:105695038-105695039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201681381	chr9:105695044-105695045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185093239	chr9:105695060-105695061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572015581	chr9:105695076-105695077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534614929	chr9:105695105-105695106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532174324	chr9:105695130-105695131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550786651	chr9:105695143-105695144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10990384	chr9:105695150-105695151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs144092304	chr9:105695252-105695253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35454884	chr9:105695265-105695266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563378758	chr9:105695294-105695295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75441524	chr9:105695296-105695297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545634859	chr9:105695297-105695298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189026522	chr9:105695307-105695308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565401069	chr9:105695313-105695314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527762951	chr9:105695376-105695377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547413894	chr9:105695382-105695383	Enhancers	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
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105694600-105695000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr9:105694800-105695200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr9:105695000-105695400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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