Variant report

Variant	nsv970168
Chromosome Location	chr6:133318534-133319034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545592991	chr6:133318540-133318541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199571081	chr6:133318551-133318552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2011426	chr6:133318562-133318563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531165539	chr6:133318578-133318579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117115597	chr6:133318586-133318587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563287537	chr6:133318589-133318590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116552510	chr6:133318641-133318642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548711964	chr6:133318697-133318698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188589077	chr6:133318720-133318721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138635861	chr6:133318722-133318723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9493495	chr6:133318759-133318760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562075248	chr6:133318762-133318763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571086377	chr6:133318768-133318769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536893942	chr6:133318773-133318774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551042374	chr6:133318775-133318776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141246040	chr6:133318787-133318788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180695751	chr6:133318814-133318815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73549894	chr6:133318818-133318819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540988700	chr6:133318887-133318888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114876541	chr6:133318897-133318898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539325253	chr6:133318905-133318906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372859855	chr6:133318918-133318919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs55930751	chr6:133318924-133318925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1886577	chr6:133318929-133318930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112846490	chr6:133318958-133318959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112816305	chr6:133319004-133319005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144983373	chr6:133319008-133319009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542574250	chr6:133319016-133319017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558905940	chr6:133319029-133319030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528102142	chr6:133319030-133319031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133315200-133322000	Weak transcription	Psoas Muscle	Psoas
2	chr6:133317400-133319000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:133317400-133319800	Weak transcription	Brain Substantia Nigra	brain
4	chr6:133317600-133318800	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:133317600-133320000	Weak transcription	HSMMtube	muscle
6	chr6:133318000-133319000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:133318800-133322400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:133319000-133319400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:133319000-133319400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:133319000-133319600	Enhancers	Cortex derived primary cultured neurospheres	brain

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