Variant report

Variant	nsv7970
Chromosome Location	chr6:133515417-133521461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 82 )

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	rs550953958	chr6:133519428-133519429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75766669	chr6:133519458-133519459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532418787	chr6:133519463-133519464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552214332	chr6:133519524-133519525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116496607	chr6:133519529-133519530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537683516	chr6:133519568-133519569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548413795	chr6:133519577-133519578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188480894	chr6:133519592-133519593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376749690	chr6:133519616-133519617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568519549	chr6:133519652-133519653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372676222	chr6:133519765-133519766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116122013	chr6:133519787-133519788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373907598	chr6:133519852-133519853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562987824	chr6:133519879-133519880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144965002	chr6:133519940-133519941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191618985	chr6:133519955-133519956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556626716	chr6:133519974-133519975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533242054	chr6:133520101-133520102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116369802	chr6:133520117-133520118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55920655	chr6:133520118-133520119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551582564	chr6:133520155-133520156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553831920	chr6:133520182-133520183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566532051	chr6:133520236-133520237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113961331	chr6:133520257-133520258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560698241	chr6:133520259-133520260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574158012	chr6:133520289-133520290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539970282	chr6:133520312-133520313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376764940	chr6:133520355-133520356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559695251	chr6:133520358-133520359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74576250	chr6:133520413-133520414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375903059	chr6:133520425-133520426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562599712	chr6:133520469-133520470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531636734	chr6:133520497-133520498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548376974	chr6:133520538-133520539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182497433	chr6:133520553-133520554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187182455	chr6:133520610-133520611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534134700	chr6:133520691-133520692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547959842	chr6:133520700-133520701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35489029	chr6:133520705-133520706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570816312	chr6:133520719-133520720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539411274	chr6:133520727-133520728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9493564	chr6:133520752-133520753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs546518683	chr6:133520791-133520792	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133519400-133520600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:133519800-133520800	Enhancers	HMEC	breast
3	chr6:133519800-133520800	Enhancers	NHEK	skin
4	chr6:133520000-133520600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links