Variant report

Variant	esv3335502
Chromosome Location	chr6:62959612-62961178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374628460	chr6:62959615-62959616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116086423	chr6:62959623-62959624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572237153	chr6:62959689-62959690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545558034	chr6:62959727-62959728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139847841	chr6:62959835-62959836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142979526	chr6:62959836-62959837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150654825	chr6:62959953-62959954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184368063	chr6:62960001-62960002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs176600	chr6:62960026-62960027	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537125464	chr6:62960031-62960032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117379154	chr6:62960048-62960049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72870783	chr6:62960049-62960050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570025142	chr6:62960050-62960051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531151953	chr6:62960060-62960061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552766423	chr6:62960099-62960100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116556034	chr6:62960112-62960113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535333667	chr6:62960123-62960124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569762387	chr6:62960124-62960125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531555406	chr6:62960184-62960185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115962982	chr6:62960231-62960232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550137959	chr6:62960238-62960239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188399839	chr6:62960274-62960275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535076418	chr6:62960290-62960291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76036464	chr6:62960338-62960339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575209462	chr6:62960408-62960409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139995839	chr6:62960478-62960479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545596689	chr6:62960480-62960481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181261673	chr6:62960519-62960520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572840430	chr6:62960540-62960541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558942024	chr6:62960633-62960634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185986982	chr6:62960634-62960635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149848890	chr6:62960660-62960661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541063369	chr6:62960733-62960734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78697335	chr6:62960736-62960737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144703932	chr6:62960756-62960757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73760337	chr6:62960771-62960772	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190948656	chr6:62960797-62960798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139846629	chr6:62960799-62960800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564660683	chr6:62960826-62960827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374843928	chr6:62960830-62960831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182392926	chr6:62960886-62960887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547251812	chr6:62960982-62960983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187001618	chr6:62961011-62961012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147696940	chr6:62961019-62961020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550259659	chr6:62961020-62961021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142385867	chr6:62961048-62961049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372688572	chr6:62961171-62961172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62944000-62988200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62958400-62959800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:62958600-62960200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:62958600-62960800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr6:62959000-62960200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:62959400-62960400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:62960800-62961200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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