Variant report

Variant	esv3406988
Chromosome Location	chr14:97175121-97175866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548981443	chr14:97175124-97175125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117940135	chr14:97175137-97175138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200627105	chr14:97175162-97175163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546326981	chr14:97175163-97175164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150453399	chr14:97175175-97175176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369432218	chr14:97175176-97175177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199616547	chr14:97175177-97175178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2887552	chr14:97175185-97175186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71397751	chr14:97175195-97175196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111624291	chr14:97175196-97175197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79528431	chr14:97175206-97175207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76121267	chr14:97175227-97175228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547422140	chr14:97175235-97175236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11844429	chr14:97175236-97175237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71419294	chr14:97175237-97175238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2887553	chr14:97175239-97175240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61979802	chr14:97175254-97175255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182490381	chr14:97175262-97175263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374969403	chr14:97175263-97175264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71415049	chr14:97175274-97175275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377463476	chr14:97175279-97175280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74210118	chr14:97175295-97175296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111383757	chr14:97175296-97175297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368986016	chr14:97175316-97175317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190466070	chr14:97175328-97175329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111650042	chr14:97175329-97175330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12434995	chr14:97175336-97175337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12431778	chr14:97175337-97175338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201900011	chr14:97175339-97175340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371237806	chr14:97175344-97175345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62637666	chr14:97175358-97175359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376362540	chr14:97175386-97175387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370977818	chr14:97175391-97175392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199771472	chr14:97175402-97175403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374057505	chr14:97175406-97175407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373615630	chr14:97175407-97175408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12881716	chr14:97175414-97175415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183072069	chr14:97175421-97175422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12880743	chr14:97175424-97175425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376131419	chr14:97175447-97175448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187182321	chr14:97175454-97175455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs137988316	chr14:97175465-97175466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370751693	chr14:97175470-97175471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201002447	chr14:97175471-97175472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568968883	chr14:97175472-97175473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111217135	chr14:97175486-97175487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373935166	chr14:97175512-97175513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12881906	chr14:97175519-97175520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545198773	chr14:97175534-97175535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368076312	chr14:97175535-97175536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97172200-97178000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:97175000-97175200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:97175800-97176400	Enhancers	GM12878-XiMat	blood
4	chr14:97175800-97177400	Enhancers	Fetal Brain Female	brain

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