Variant report

Variant	nsv970063
Chromosome Location	chr6:145538272-145539978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537228288	chr6:145538388-145538389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573860584	chr6:145538412-145538413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558828485	chr6:145538421-145538422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9399537	chr6:145538465-145538466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146909924	chr6:145538581-145538582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148371461	chr6:145538626-145538627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571396174	chr6:145538651-145538652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574339450	chr6:145538682-145538683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185042274	chr6:145538696-145538697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561602784	chr6:145538706-145538707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531914239	chr6:145538761-145538762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35382512	chr6:145538789-145538790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549950047	chr6:145538849-145538850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12198531	chr6:145539000-145539001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189939524	chr6:145539103-145539104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113248862	chr6:145539135-145539136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547837260	chr6:145539166-145539167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181112988	chr6:145539260-145539261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536629487	chr6:145539272-145539273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548328638	chr6:145539352-145539353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141433702	chr6:145539358-145539359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569956228	chr6:145539373-145539374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373810171	chr6:145539387-145539388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558893867	chr6:145539399-145539400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570619915	chr6:145539400-145539401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377257168	chr6:145539458-145539459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12206002	chr6:145539467-145539468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185360756	chr6:145539474-145539475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527920791	chr6:145539481-145539482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150822423	chr6:145539544-145539545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs475017	chr6:145539545-145539546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs561444035	chr6:145539568-145539569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576323099	chr6:145539599-145539600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543670649	chr6:145539674-145539675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565255918	chr6:145539678-145539679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9403673	chr6:145539739-145539740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139331340	chr6:145539776-145539777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564844739	chr6:145539839-145539840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142858567	chr6:145539846-145539847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9376903	chr6:145539857-145539858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571013891	chr6:145539971-145539972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530176467	chr6:145539972-145539973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190021002	chr6:145539978-145539979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145537000-145541400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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