Variant report

Variant	esv3410580
Chromosome Location	chr14:97234924-97235672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369110827	chr14:97234940-97234941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565680744	chr14:97234946-97234947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147072424	chr14:97234969-97234970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76793107	chr14:97234977-97234978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373255285	chr14:97234997-97234998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386780438	chr14:97235004-97235005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375204434	chr14:97235015-97235016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372728919	chr14:97235021-97235022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142517317	chr14:97235023-97235024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74951088	chr14:97235024-97235025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572481796	chr14:97235032-97235033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111068111	chr14:97235068-97235069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150585915	chr14:97235133-97235134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557923022	chr14:97235142-97235143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144703636	chr14:97235146-97235147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576339437	chr14:97235159-97235160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368705276	chr14:97235177-97235178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376006286	chr14:97235182-97235183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369598808	chr14:97235183-97235184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543660549	chr14:97235184-97235185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371784675	chr14:97235187-97235188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375448500	chr14:97235188-97235189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369810242	chr14:97235194-97235195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141084631	chr14:97235195-97235196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554550157	chr14:97235205-97235206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140335116	chr14:97235206-97235207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192335465	chr14:97235230-97235231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138002742	chr14:97235240-97235241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184050704	chr14:97235254-97235255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115314307	chr14:97235267-97235268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150827339	chr14:97235274-97235275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62649140	chr14:97235282-97235283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117630470	chr14:97235308-97235309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111217176	chr14:97235317-97235318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200674661	chr14:97235338-97235339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111206831	chr14:97235340-97235341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62637932	chr14:97235342-97235343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369983236	chr14:97235343-97235344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62637933	chr14:97235351-97235352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62637667	chr14:97235356-97235357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62637668	chr14:97235361-97235362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111206832	chr14:97235368-97235369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369394021	chr14:97235374-97235375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142439736	chr14:97235386-97235387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567538555	chr14:97235421-97235422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72708800	chr14:97235442-97235443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558644740	chr14:97235464-97235465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12893780	chr14:97235465-97235466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143530318	chr14:97235479-97235480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs33992723	chr14:97235481-97235482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97230600-97238800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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