Variant report

Variant	nsv520783
Chromosome Location	chr14:32241873-32242747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11156707	chr14:32241873-32241874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563698720	chr14:32241901-32241902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556003362	chr14:32241996-32241997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574028239	chr14:32242001-32242002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183403408	chr14:32242073-32242074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562715057	chr14:32242080-32242081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs67355575	chr14:32242161-32242162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371972912	chr14:32242182-32242183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545048449	chr14:32242183-32242184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555548314	chr14:32242190-32242191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560032898	chr14:32242224-32242225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574793835	chr14:32242244-32242245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144374303	chr14:32242250-32242251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139094738	chr14:32242251-32242252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374102443	chr14:32242254-32242255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567538554	chr14:32242262-32242263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143961375	chr14:32242265-32242266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367967634	chr14:32242268-32242269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550099660	chr14:32242274-32242275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571424293	chr14:32242285-32242286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542375461	chr14:32242312-32242313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538874220	chr14:32242388-32242389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558228893	chr14:32242430-32242431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566878974	chr14:32242467-32242468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111291311	chr14:32242497-32242498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534181962	chr14:32242503-32242504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56084923	chr14:32242517-32242518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573718765	chr14:32242577-32242578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575696178	chr14:32242612-32242613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372140713	chr14:32242620-32242621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556450145	chr14:32242622-32242623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577807717	chr14:32242682-32242683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570911331	chr14:32242685-32242686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187509621	chr14:32242691-32242692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370052042	chr14:32242705-32242706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527432467	chr14:32242708-32242709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17098165	chr14:32242747-32242748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
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
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
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32222600-32270200	Weak transcription	Aorta	Aorta
2	chr14:32239400-32249000	Weak transcription	Primary B cells from cord blood	blood
3	chr14:32239600-32259800	Weak transcription	Left Ventricle	heart
4	chr14:32240000-32247800	Weak transcription	Right Ventricle	heart
5	chr14:32240000-32249400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:32240000-32249600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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