Variant report

Variant	nsv974470
Chromosome Location	chr14:83412606-83416274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533855601	chr14:83412827-83412828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374186127	chr14:83412863-83412864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540407048	chr14:83412886-83412887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149448799	chr14:83412931-83412932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187144571	chr14:83412933-83412934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34637421	chr14:83412975-83412976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397728344	chr14:83412977-83412978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113370853	chr14:83412984-83412985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570462244	chr14:83413041-83413042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368871077	chr14:83413052-83413053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372090695	chr14:83413073-83413074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562854686	chr14:83413076-83413077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533181107	chr14:83413175-83413176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111671499	chr14:83413246-83413247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546042939	chr14:83413253-83413254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147142867	chr14:83413278-83413279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528421923	chr14:83413300-83413301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115291677	chr14:83413331-83413332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191639116	chr14:83413394-83413395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528977709	chr14:83413438-83413439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550416355	chr14:83413442-83413443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572673880	chr14:83413447-83413448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568803737	chr14:83413490-83413491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375412789	chr14:83413493-83413494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185353360	chr14:83413509-83413510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188501367	chr14:83413510-83413511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566809429	chr14:83413530-83413531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11626173	chr14:83413534-83413535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6574733	chr14:83413536-83413537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs8008284	chr14:83413613-83413614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373658058	chr14:83413641-83413642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73346786	chr14:83413830-83413831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577940496	chr14:83413845-83413846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538777875	chr14:83413910-83413911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545051351	chr14:83413918-83413919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560504108	chr14:83413939-83413940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528384435	chr14:83413954-83413955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540576866	chr14:83413957-83413958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1959733	chr14:83414009-83414010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140974933	chr14:83414012-83414013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529095031	chr14:83414029-83414030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193115196	chr14:83414043-83414044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185577594	chr14:83414047-83414048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189386831	chr14:83414059-83414060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180999161	chr14:83414066-83414067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1959734	chr14:83414067-83414068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547898064	chr14:83414086-83414087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549275480	chr14:83414125-83414126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183757133	chr14:83414153-83414154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188871352	chr14:83414161-83414162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83412800-83413200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:83413200-83417200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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