Variant report

Variant	esv3491901
Chromosome Location	chr6:162066212-162068510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6916828	chr6:162066216-162066217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6939123	chr6:162066229-162066230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527538118	chr6:162066237-162066238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9647609	chr6:162066238-162066239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78726523	chr6:162066252-162066253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75615974	chr6:162066253-162066254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555823906	chr6:162066270-162066271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201206787	chr6:162066276-162066277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73021469	chr6:162066299-162066300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs144837149	chr6:162066326-162066327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555303556	chr6:162066334-162066335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113137575	chr6:162066383-162066384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183072433	chr6:162066387-162066388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558432840	chr6:162066409-162066410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9647610	chr6:162066421-162066422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs539325857	chr6:162066426-162066427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543964930	chr6:162066435-162066436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563656835	chr6:162066451-162066452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529351864	chr6:162066542-162066543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542662975	chr6:162066547-162066548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559651123	chr6:162066550-162066551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6939825	chr6:162066568-162066569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547278976	chr6:162066583-162066584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566647764	chr6:162066605-162066606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6901369	chr6:162066620-162066621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532939177	chr6:162066661-162066662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549536559	chr6:162066662-162066663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569661140	chr6:162066688-162066689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138758351	chr6:162066705-162066706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555117210	chr6:162066709-162066710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141575399	chr6:162066754-162066755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73595361	chr6:162066770-162066771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558469924	chr6:162066778-162066779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188412367	chr6:162066781-162066782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139229146	chr6:162066782-162066783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557486962	chr6:162066799-162066800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116272820	chr6:162066844-162066845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193042039	chr6:162066890-162066891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185629229	chr6:162066898-162066899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572885578	chr6:162066899-162066900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375668664	chr6:162066919-162066920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540954769	chr6:162066940-162066941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12209808	chr6:162066946-162066947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs139060514	chr6:162066964-162066965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112155211	chr6:162066969-162066970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549712994	chr6:162066972-162066973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563496452	chr6:162066977-162066978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529021369	chr6:162066978-162066979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12203822	chr6:162066980-162066981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12205219	chr6:162066986-162066987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162057600-162068800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:162064600-162068400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:162067400-162067600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:162067600-162067800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:162067600-162067800	Enhancers	Esophagus	oesophagus
6	chr6:162068400-162069400	Enhancers	Cortex derived primary cultured neurospheres	brain

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