Variant report

Variant	nsv565424
Chromosome Location	chr14:85477607-85499165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:85490593..85492977-chr14:85499997..85502268,2	K562	blood:

Extended variants
information (count: 614 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577962785	chr14:85482802-85482803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545232777	chr14:85482898-85482899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11399225	chr14:85482901-85482902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146207324	chr14:85482938-85482939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77345966	chr14:85482955-85482956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540749480	chr14:85482977-85482978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562026334	chr14:85482989-85482990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182193699	chr14:85482999-85483000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550559051	chr14:85483031-85483032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141370312	chr14:85483032-85483033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533407044	chr14:85483089-85483090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551577888	chr14:85483100-85483101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555689042	chr14:85483103-85483104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567029553	chr14:85483120-85483121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534113463	chr14:85483149-85483150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79012329	chr14:85483183-85483184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35640427	chr14:85483201-85483202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567245994	chr14:85483363-85483364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186968087	chr14:85483402-85483403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556153516	chr14:85483427-85483428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192485869	chr14:85483432-85483433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538907556	chr14:85483438-85483439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553760767	chr14:85483484-85483485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12435212	chr14:85483485-85483486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555736494	chr14:85483512-85483513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34238472	chr14:85483521-85483522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143493672	chr14:85483587-85483588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148020547	chr14:85483591-85483592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111826849	chr14:85483597-85483598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183402394	chr14:85483617-85483618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150077927	chr14:85483633-85483634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551687948	chr14:85483659-85483660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560611429	chr14:85483660-85483661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138533870	chr14:85483723-85483724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188473468	chr14:85483729-85483730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192941939	chr14:85483801-85483802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537904823	chr14:85483826-85483827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549822712	chr14:85483849-85483850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571290990	chr14:85483887-85483888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184731672	chr14:85483965-85483966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538622540	chr14:85483997-85483998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189501838	chr14:85483999-85484000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73316546	chr14:85484033-85484034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536451207	chr14:85484042-85484043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191789829	chr14:85484082-85484083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573814019	chr14:85484129-85484130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60636418	chr14:85484166-85484167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545497167	chr14:85484186-85484187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559014880	chr14:85484194-85484195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578013238	chr14:85484214-85484215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85482800-85483200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr14:85483000-85483400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:85483200-85494200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:85491200-85491600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:85491200-85491600	Enhancers	Hela-S3	cervix
6	chr14:85493800-85496000	Enhancers	Fetal Brain Female	brain
7	chr14:85494000-85494600	Enhancers	Brain Germinal Matrix	brain
8	chr14:85494200-85494800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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