Variant report

Variant	nsv564073
Chromosome Location	chr14:26030013-26057695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191708798	chr14:26031688-26031689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370568600	chr14:26031713-26031714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532029389	chr14:26031715-26031716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548631015	chr14:26031735-26031736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568450056	chr14:26031816-26031817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373256398	chr14:26031838-26031839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562445303	chr14:26031867-26031868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112584455	chr14:26031868-26031869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77112547	chr14:26031878-26031879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199954666	chr14:26031879-26031880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs118034847	chr14:26031881-26031882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12894028	chr14:26031882-26031883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562119536	chr14:26031927-26031928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570963442	chr14:26031930-26031931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183672163	chr14:26031966-26031967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556316925	chr14:26032007-26032008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569795227	chr14:26032017-26032018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188146916	chr14:26032022-26032023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141750149	chr14:26032026-26032027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571671692	chr14:26032047-26032048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529979932	chr14:26032057-26032058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371353002	chr14:26032066-26032067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534834903	chr14:26032083-26032084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573894193	chr14:26032084-26032085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147099464	chr14:26032086-26032087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569992719	chr14:26032096-26032097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537225995	chr14:26032100-26032101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577676347	chr14:26032101-26032102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28507897	chr14:26032153-26032154	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs77833049	chr14:26032162-26032163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138485174	chr14:26032170-26032171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542507734	chr14:26032196-26032197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562391807	chr14:26032210-26032211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527640616	chr14:26032218-26032219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191823810	chr14:26032231-26032232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547824246	chr14:26032252-26032253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570901836	chr14:26032255-26032256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533461755	chr14:26032327-26032328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1955878	chr14:26032329-26032330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs80207755	chr14:26032331-26032332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570451109	chr14:26032363-26032364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556088737	chr14:26044873-26044874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560779512	chr14:26044886-26044887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577611141	chr14:26044924-26044925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182189150	chr14:26044940-26044941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35675501	chr14:26044962-26044963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546548147	chr14:26045058-26045059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562855660	chr14:26045073-26045074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531759471	chr14:26045103-26045104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577627315	chr14:26045106-26045107	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:26031600-26032400	Enhancers	Adipose Nuclei	Adipose
2	chr14:26044800-26046600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:26045000-26045600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr14:26045000-26046600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:26045200-26046200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:26045200-26046600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:26045400-26046400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr14:26045400-26046400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:26045600-26046000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr14:26045600-26046600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:26046000-26046600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:26055400-26055600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:26055600-26061400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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