Variant report

Variant	esv3392745
Chromosome Location	chr6:63490868-63493541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558046609	chr6:63490882-63490883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572915470	chr6:63490917-63490918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539914072	chr6:63490923-63490924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143801369	chr6:63490930-63490931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573629855	chr6:63490946-63490947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544222461	chr6:63491038-63491039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562807124	chr6:63491094-63491095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186714427	chr6:63491120-63491121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190120192	chr6:63491177-63491178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77040895	chr6:63491189-63491190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146355509	chr6:63491205-63491206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528597981	chr6:63491231-63491232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs36086878	chr6:63491314-63491315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538689562	chr6:63491316-63491317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72885062	chr6:63491333-63491334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529291085	chr6:63491341-63491342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550544547	chr6:63491374-63491375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182376625	chr6:63491382-63491383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569234777	chr6:63491389-63491390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539714857	chr6:63491397-63491398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558343958	chr6:63491427-63491428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566910865	chr6:63491430-63491431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533889557	chr6:63491434-63491435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9360826	chr6:63491511-63491512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573769640	chr6:63491547-63491548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577950078	chr6:63491568-63491569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36152341	chr6:63491569-63491570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374044246	chr6:63491596-63491597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541389149	chr6:63491599-63491600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs66487423	chr6:63491617-63491618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556167957	chr6:63491629-63491630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67289914	chr6:63491636-63491637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12528224	chr6:63491644-63491645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9689332	chr6:63491658-63491659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13197735	chr6:63491662-63491663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13197736	chr6:63491663-63491664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369029783	chr6:63491672-63491673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71681879	chr6:63491673-63491674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs70996253	chr6:63491682-63491683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13197745	chr6:63491683-63491684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13201000	chr6:63491684-63491685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13197836	chr6:63491691-63491692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577885684	chr6:63491696-63491697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13212632	chr6:63491698-63491699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560302040	chr6:63491716-63491717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9689417	chr6:63491717-63491718	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs188762493	chr6:63491744-63491745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193183093	chr6:63491818-63491819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185104441	chr6:63491822-63491823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188605763	chr6:63491839-63491840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63487200-63500600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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