Variant report

Variant	nsv1039277
Chromosome Location	chr10:56456775-56485231
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	chr10:53779538..53781883-chr10:56470843..56472932,2	MCF-7	breast:

Extended variants
information (count: 276 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568619500	chr10:56458023-56458024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190280477	chr10:56458078-56458079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569081045	chr10:56458208-56458209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547558088	chr10:56458212-56458213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16906412	chr10:56458214-56458215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74136246	chr10:56458245-56458246	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555787036	chr10:56458261-56458262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138622535	chr10:56458271-56458272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535064830	chr10:56458346-56458347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75982180	chr10:56458364-56458365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79153155	chr10:56458386-56458387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376464963	chr10:56458398-56458399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116065253	chr10:56458402-56458403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150675746	chr10:56458437-56458438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568215507	chr10:56458443-56458444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375463743	chr10:56458511-56458512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368275333	chr10:56458518-56458519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562785682	chr10:56458565-56458566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75671409	chr10:56458582-56458583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113092486	chr10:56458597-56458598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534333481	chr10:56458601-56458602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185273243	chr10:56458690-56458691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386743995	chr10:56458694-56458695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74383037	chr10:56458696-56458697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117240185	chr10:56458709-56458710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76438468	chr10:56458721-56458722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372899486	chr10:56458737-56458738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35348714	chr10:56458743-56458744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138900663	chr10:56458799-56458800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189485954	chr10:56458800-56458801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529497149	chr10:56458812-56458813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75809380	chr10:56458837-56458838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181828697	chr10:56458871-56458872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147536406	chr10:56458880-56458881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115680599	chr10:56458884-56458885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185183661	chr10:56458905-56458906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558033276	chr10:56458914-56458915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559648517	chr10:56458956-56458957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577906478	chr10:56458958-56458959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558189536	chr10:56466414-56466415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557685089	chr10:56466416-56466417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372052016	chr10:56466443-56466444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185551484	chr10:56466444-56466445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543690289	chr10:56466456-56466457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557509645	chr10:56466469-56466470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111777699	chr10:56466470-56466471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573827139	chr10:56466478-56466479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189086992	chr10:56466486-56466487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113858185	chr10:56466487-56466488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528099552	chr10:56466493-56466494	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Cancer	20164919	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56458000-56459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:56466400-56471000	Enhancers	Fetal Lung	lung
3	chr10:56466600-56469000	Enhancers	Fetal Brain Male	brain
4	chr10:56467600-56468800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:56468600-56469200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:56469200-56470600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:56470600-56471000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:56471000-56472000	Weak transcription	Fetal Lung	lung
9	chr10:56472200-56472400	Enhancers	Fetal Lung	lung

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