Variant report

Variant	esv3451050
Chromosome Location	chr6:133692259-133695857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540655855	chr6:133692264-133692265	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs190525081	chr6:133692273-133692274	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577887309	chr6:133692295-133692296	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs192514673	chr6:133692322-133692323	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs558634972	chr6:133692329-133692330	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113423556	chr6:133692330-133692331	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs142486681	chr6:133692336-133692337	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184200168	chr6:133692337-133692338	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189099040	chr6:133692350-133692351	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10484669	chr6:133692366-133692367	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528579923	chr6:133692442-133692443	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs560821880	chr6:133692465-133692466	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs181108314	chr6:133692524-133692525	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs537749713	chr6:133692542-133692543	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs142300169	chr6:133692556-133692557	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs567936305	chr6:133692569-133692570	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs114315808	chr6:133692581-133692582	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553131345	chr6:133692601-133692602	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571844928	chr6:133692627-133692628	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs151302002	chr6:133692644-133692645	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557356682	chr6:133692666-133692667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs577519917	chr6:133692729-133692730	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369921930	chr6:133692738-133692739	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543711459	chr6:133692765-133692766	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs12209771	chr6:133692794-133692795	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376999893	chr6:133692845-133692846	Weak transcription Bivalent Enhancer Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs112240993	chr6:133692919-133692920	Weak transcription Bivalent Enhancer Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369331118	chr6:133692981-133692982	Weak transcription Bivalent Enhancer Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370275695	chr6:133693016-133693017	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542876166	chr6:133693154-133693155	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs35010305	chr6:133693156-133693157	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs9375961	chr6:133693211-133693212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35034926	chr6:133693255-133693256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140532243	chr6:133693300-133693301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528619038	chr6:133693361-133693362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545502917	chr6:133693381-133693382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551849405	chr6:133693432-133693433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5880178	chr6:133693611-133693612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375424026	chr6:133693620-133693621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367971003	chr6:133693621-133693622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397843283	chr6:133693626-133693627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189639216	chr6:133693646-133693647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567492304	chr6:133693712-133693713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145004786	chr6:133693713-133693714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529736988	chr6:133693721-133693722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550948323	chr6:133693732-133693733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150488200	chr6:133693760-133693761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536535465	chr6:133693781-133693782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180760638	chr6:133693792-133693793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549378321	chr6:133693811-133693812	Weak transcription	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133684600-133717800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:133690800-133693200	Active TSS	Hela-S3	cervix
3	chr6:133691400-133692400	Weak transcription	A549	lung
4	chr6:133691400-133698000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:133691400-133700200	Weak transcription	Psoas Muscle	Psoas
6	chr6:133691400-133700800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:133691600-133701200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:133692000-133692400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:133692200-133692400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:133692400-133692600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:133692400-133693000	Enhancers	A549	lung
12	chr6:133692600-133692800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:133692800-133693000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:133693200-133695000	Weak transcription	Hela-S3	cervix
15	chr6:133695000-133696000	Active TSS	Hela-S3	cervix

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