Variant report

Variant	esv3335919
Chromosome Location	chr6:69810422-69811312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558706124	chr6:69810432-69810433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181108487	chr6:69810462-69810463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185987919	chr6:69810539-69810540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560918515	chr6:69810541-69810542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4706857	chr6:69810588-69810589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142684774	chr6:69810604-69810605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200196575	chr6:69810631-69810632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188890965	chr6:69810634-69810635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113854855	chr6:69810674-69810675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552213507	chr6:69810684-69810685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182022596	chr6:69810685-69810686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570383329	chr6:69810691-69810692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201160948	chr6:69810702-69810703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112281517	chr6:69810719-69810720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368401905	chr6:69810734-69810735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142291481	chr6:69810736-69810737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146955767	chr6:69810739-69810740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374077089	chr6:69810741-69810742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148749210	chr6:69810742-69810743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372552736	chr6:69810747-69810748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375200315	chr6:69810755-69810756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369362717	chr6:69810756-69810757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187387839	chr6:69810760-69810761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372144381	chr6:69810761-69810762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61679456	chr6:69810762-69810763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71772427	chr6:69810763-69810764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57671744	chr6:69810766-69810767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572936067	chr6:69810767-69810768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150514603	chr6:69810769-69810770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9446093	chr6:69810770-69810771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58057622	chr6:69810771-69810772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376702233	chr6:69810774-69810775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374756550	chr6:69810776-69810777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369897377	chr6:69810777-69810778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369705450	chr6:69810779-69810780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9454694	chr6:69810794-69810795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114245485	chr6:69810797-69810798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374194507	chr6:69810801-69810802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56237292	chr6:69810804-69810805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571424789	chr6:69810806-69810807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377514182	chr6:69810808-69810809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58802030	chr6:69810817-69810818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59893244	chr6:69810818-69810819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191838531	chr6:69810820-69810821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9446094	chr6:69810821-69810822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184054597	chr6:69810826-69810827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370662228	chr6:69810828-69810829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74218057	chr6:69810832-69810833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201691990	chr6:69810839-69810840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs67648970	chr6:69810840-69810841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69799400-69820800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:69800800-69820600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:69807400-69812200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:69809600-69812000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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