Variant report

Variant	esv3449689
Chromosome Location	chr6:133971159-133975207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537060959	chr6:133971166-133971167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550544514	chr6:133971187-133971188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561355794	chr6:133971188-133971189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567649212	chr6:133971236-133971237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13437193	chr6:133971274-133971275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374719925	chr6:133971277-133971278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373607803	chr6:133971295-133971296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573369570	chr6:133971324-133971325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539176113	chr6:133971447-133971448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200591540	chr6:133971514-133971515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62429265	chr6:133971568-133971569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549010041	chr6:133971583-133971584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111274315	chr6:133971813-133971814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62429267	chr6:133972814-133972815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62429268	chr6:133972850-133972851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372142149	chr6:133973043-133973044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376146798	chr6:133973049-133973050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371846262	chr6:133973079-133973080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112565142	chr6:133973140-133973141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376457676	chr6:133973144-133973145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370036316	chr6:133973152-133973153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374413962	chr6:133973331-133973332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377681390	chr6:133973397-133973398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62429269	chr6:133973848-133973849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112247571	chr6:133973869-133973870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9688462	chr6:133973974-133973975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62429270	chr6:133973987-133973988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62429271	chr6:133974006-133974007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9688883	chr6:133974217-133974218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373007887	chr6:133974261-133974262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377187027	chr6:133974276-133974277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557910088	chr6:133974277-133974278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9688890	chr6:133974299-133974300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373786220	chr6:133974308-133974309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113226774	chr6:133974351-133974352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371592595	chr6:133974354-133974355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572688042	chr6:133974367-133974368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369073194	chr6:133974380-133974381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189854307	chr6:133974404-133974405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9321408	chr6:133974410-133974411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563268647	chr6:133974510-133974511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374510988	chr6:133974527-133974528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573917963	chr6:133974609-133974610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368502263	chr6:133974648-133974649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559552936	chr6:133974711-133974712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200242338	chr6:133974774-133974775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528293337	chr6:133974827-133974828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551124988	chr6:133974832-133974833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3865413	chr6:133974857-133974858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55947093	chr6:133974969-133974970	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133970400-133976000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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