Variant report

Variant	nsv518009
Chromosome Location	chr14:72691607-72692378
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2238233	chr14:72691607-72691608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371739163	chr14:72691619-72691620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551385682	chr14:72691622-72691623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116360610	chr14:72691643-72691644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537130290	chr14:72691648-72691649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538008011	chr14:72691661-72691662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147943801	chr14:72691686-72691687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566035710	chr14:72691724-72691725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35154615	chr14:72691769-72691770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554354240	chr14:72691781-72691782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201610597	chr14:72691789-72691790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150085045	chr14:72691794-72691795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375126161	chr14:72691799-72691800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539791348	chr14:72691835-72691836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557708182	chr14:72691841-72691842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs847314	chr14:72691866-72691867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs117745555	chr14:72691888-72691889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2238232	chr14:72691911-72691912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145537105	chr14:72691927-72691928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540827468	chr14:72691935-72691936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148844645	chr14:72691976-72691977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35378085	chr14:72692035-72692036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115719191	chr14:72692041-72692042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572335968	chr14:72692049-72692050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545357926	chr14:72692055-72692056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2108467	chr14:72692073-72692074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530490198	chr14:72692095-72692096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564374905	chr14:72692101-72692102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548967099	chr14:72692176-72692177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145492445	chr14:72692178-72692179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370217119	chr14:72692208-72692209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2139595	chr14:72692278-72692279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528232597	chr14:72692279-72692280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113802955	chr14:72692294-72692295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138043729	chr14:72692317-72692318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372585421	chr14:72692320-72692321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117233019	chr14:72692328-72692329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557993047	chr14:72692329-72692330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570032796	chr14:72692337-72692338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184422977	chr14:72692347-72692348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545814880	chr14:72692348-72692349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537002966	chr14:72692354-72692355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377064616	chr14:72692371-72692372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs977340	chr14:72692378-72692379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Alzheimer''s disease	22166940	CNVD
Cancer	20164919	CNVD
head and neck squamous cell carcinoma	24351288	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72687800-72700200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72687800-72705800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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