Variant report

Variant	nsv522788
Chromosome Location	chr14:45043928-45066033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 56 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75032780	chr14:45055417-45055418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186967838	chr14:45055419-45055420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373022434	chr14:45055420-45055421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12590699	chr14:45055513-45055514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150659015	chr14:45055515-45055516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372804017	chr14:45055533-45055534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548562820	chr14:45055592-45055593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191335249	chr14:45055619-45055620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528025394	chr14:45055648-45055649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552726033	chr14:45055657-45055658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35209096	chr14:45055721-45055722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs138898809	chr14:45055732-45055733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560906231	chr14:45055733-45055734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146346714	chr14:45055741-45055742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549642964	chr14:45055760-45055761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540709454	chr14:45055774-45055775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535440624	chr14:45055779-45055780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184184520	chr14:45055780-45055781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569169537	chr14:45055786-45055787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572301981	chr14:45055796-45055797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188628864	chr14:45055816-45055817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557508679	chr14:45055858-45055859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575855822	chr14:45055879-45055880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193173552	chr14:45055885-45055886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562653888	chr14:45055914-45055915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369576641	chr14:45055978-45055979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7142105	chr14:45055981-45055982	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184979243	chr14:45055984-45055985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560321882	chr14:45056010-45056011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189874217	chr14:45056015-45056016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565738840	chr14:45056025-45056026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535074753	chr14:45056045-45056046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552620802	chr14:45056078-45056079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548406824	chr14:45056135-45056136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571026832	chr14:45056180-45056181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531958812	chr14:45056187-45056188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139508034	chr14:45056189-45056190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568165886	chr14:45056211-45056212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535243745	chr14:45056248-45056249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553712973	chr14:45056338-45056339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1959368	chr14:45056371-45056372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539690139	chr14:45056392-45056393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557644999	chr14:45056419-45056420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575790526	chr14:45056438-45056439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191875891	chr14:45056452-45056453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555186344	chr14:45056490-45056491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183906624	chr14:45056543-45056544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541995642	chr14:45056549-45056550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10130691	chr14:45056564-45056565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs144223918	chr14:45056570-45056571	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
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
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45055400-45056600	Enhancers	Pancreatic Islets	Pancreatic Islet

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