Variant report

Variant	esv3348900
Chromosome Location	chr6:131120259-131123757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146140631	chr6:131120275-131120276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148800965	chr6:131120302-131120303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142045023	chr6:131120307-131120308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73629702	chr6:131120319-131120320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188093724	chr6:131120421-131120422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564004450	chr6:131120423-131120424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73631003	chr6:131120433-131120434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs34790439	chr6:131120451-131120452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191166697	chr6:131120462-131120463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151139552	chr6:131120470-131120471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71572940	chr6:131120475-131120476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375988289	chr6:131120492-131120493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72998215	chr6:131120517-131120518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369033526	chr6:131120566-131120567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542278848	chr6:131120595-131120596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183994631	chr6:131120601-131120602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189683794	chr6:131120614-131120615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117412935	chr6:131120615-131120616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571133792	chr6:131120634-131120635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538186435	chr6:131120682-131120683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376832864	chr6:131120727-131120728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189633725	chr6:131120741-131120742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575909746	chr6:131120785-131120786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556506959	chr6:131120837-131120838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72998217	chr6:131120868-131120869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542306309	chr6:131120911-131120912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553808593	chr6:131120944-131120945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531075259	chr6:131120945-131120946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371618974	chr6:131120988-131120989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564588268	chr6:131121003-131121004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9402281	chr6:131121013-131121014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76079225	chr6:131121014-131121015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185262214	chr6:131121062-131121063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117006041	chr6:131121073-131121074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35851864	chr6:131121095-131121096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528833407	chr6:131121176-131121177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139062197	chr6:131121210-131121211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75099027	chr6:131121211-131121212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528357497	chr6:131121235-131121236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546591374	chr6:131121283-131121284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549261693	chr6:131121291-131121292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367902038	chr6:131121292-131121293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199843363	chr6:131121296-131121297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191930	chr6:131121300-131121301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145131669	chr6:131121330-131121331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370209453	chr6:131121491-131121492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571092816	chr6:131121512-131121513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375988028	chr6:131121521-131121522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538523302	chr6:131121560-131121561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147590137	chr6:131121580-131121581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Brain cancer	19584924	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131117800-131122000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:131122000-131122400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr6:131123000-131123800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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