Variant report

Variant	nsv437014
Chromosome Location	chr6:133919776-133924082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2636601	chr6:133919776-133919777	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114249852	chr6:133919800-133919801	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529121049	chr6:133919850-133919851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550474233	chr6:133919855-133919856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143328309	chr6:133919938-133919939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59909010	chr6:133919939-133919940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200643031	chr6:133919943-133919944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201959638	chr6:133919944-133919945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199705809	chr6:133919945-133919946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386706054	chr6:133919947-133919948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144111964	chr6:133920001-133920002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545864969	chr6:133920160-133920161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562546686	chr6:133920250-133920251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368831288	chr6:133920260-133920261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531559802	chr6:133920314-133920315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543245538	chr6:133920373-133920374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548513766	chr6:133920386-133920387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568714172	chr6:133920448-133920449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527913440	chr6:133920470-133920471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35418064	chr6:133920472-133920473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115142582	chr6:133920525-133920526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570929323	chr6:133920542-133920543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149130243	chr6:133920545-133920546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2677818	chr6:133920563-133920564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs568910004	chr6:133920575-133920576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186963909	chr6:133920621-133920622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143296589	chr6:133920656-133920657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541156171	chr6:133920681-133920682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559215816	chr6:133920690-133920691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2677819	chr6:133920766-133920767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs191384317	chr6:133920851-133920852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2636600	chr6:133920872-133920873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138843337	chr6:133920891-133920892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142195803	chr6:133920922-133920923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79162695	chr6:133920967-133920968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181107357	chr6:133920978-133920979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73773606	chr6:133920995-133920996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561898723	chr6:133921021-133921022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528008841	chr6:133921047-133921048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79753905	chr6:133921101-133921102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2677820	chr6:133921118-133921119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs114870284	chr6:133921120-133921121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185704475	chr6:133921135-133921136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73551412	chr6:133921187-133921188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs34863401	chr6:133921297-133921298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376175191	chr6:133921308-133921309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571836249	chr6:133921313-133921314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537876225	chr6:133921407-133921408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138496403	chr6:133921429-133921430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs386706055	chr6:133921484-133921485	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	chr6:133912400-133925200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:133916000-133925200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:133917200-133925200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:133917400-133921600	Weak transcription	Fetal Lung	lung
5	chr6:133919400-133919800	ZNF genes & repeats	A549	lung
6	chr6:133919800-133920400	Weak transcription	A549	lung
7	chr6:133920400-133920600	Enhancers	A549	lung
8	chr6:133921600-133922000	Enhancers	Fetal Lung	lung
9	chr6:133922000-133922800	Weak transcription	Fetal Lung	lung
10	chr6:133923800-133926600	Weak transcription	Fetal Lung	lung

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