Variant report

Variant	nsv508430
Chromosome Location	chr6:133336328-133348251
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	chr6:133334025..133335821-chr6:133338425..133340527,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561522783	chr6:133337026-133337027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527322306	chr6:133337042-133337043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373883945	chr6:133337047-133337048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540925836	chr6:133337086-133337087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564043077	chr6:133337096-133337097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537015631	chr6:133337129-133337130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144658779	chr6:133337157-133337158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549581458	chr6:133337191-133337192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111555324	chr6:133337201-133337202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529348814	chr6:133337211-133337212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187721278	chr6:133337241-133337242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565927543	chr6:133337250-133337251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535030603	chr6:133337315-133337316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192209057	chr6:133337346-133337347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558448429	chr6:133337407-133337408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2926351	chr6:133337468-133337469	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs2926350	chr6:133337492-133337493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557565060	chr6:133337522-133337523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552759114	chr6:133337529-133337530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574329571	chr6:133337553-133337554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73551607	chr6:133337650-133337651	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555448713	chr6:133337668-133337669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571899531	chr6:133337682-133337683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373371288	chr6:133337685-133337686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541043464	chr6:133337709-133337710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564006314	chr6:133337800-133337801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112527603	chr6:133337807-133337808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368173622	chr6:133337813-133337814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34665470	chr6:133337820-133337821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12197849	chr6:133337825-133337826	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs145414491	chr6:133337956-133337957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529129339	chr6:133337965-133337966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549169803	chr6:133338008-133338009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544607596	chr6:133338042-133338043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187807181	chr6:133338043-133338044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191908546	chr6:133338087-133338088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6908340	chr6:133338159-133338160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551781838	chr6:133338171-133338172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6908361	chr6:133338247-133338248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs537735957	chr6:133338277-133338278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551334703	chr6:133338286-133338287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567712983	chr6:133338296-133338297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184339109	chr6:133338299-133338300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187003968	chr6:133338302-133338303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192783302	chr6:133338358-133338359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75926121	chr6:133338373-133338374	Enhancers	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133337000-133338400	Enhancers	Fetal Lung	lung

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