Variant report

Variant	esv17832
Chromosome Location	chr5:53053775-53059759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 88 )

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	rs540207611	chr5:53053816-53053817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189511921	chr5:53053865-53053866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573534947	chr5:53053889-53053890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72757396	chr5:53053949-53053950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs143278668	chr5:53053950-53053951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565670132	chr5:53053954-53053955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180688310	chr5:53053978-53053979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551844212	chr5:53053997-53053998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185410668	chr5:53054014-53054015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547591389	chr5:53054025-53054026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185629	chr5:53054043-53054044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs271213	chr5:53054065-53054066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs55828101	chr5:53054078-53054079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567928349	chr5:53054112-53054113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538460959	chr5:53054113-53054114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190118297	chr5:53054117-53054118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568941572	chr5:53054137-53054138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140861244	chr5:53054147-53054148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539197344	chr5:53054162-53054163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550011134	chr5:53054180-53054181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142834948	chr5:53054193-53054194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181207192	chr5:53054204-53054205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575632402	chr5:53054206-53054207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559646212	chr5:53054269-53054270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569857792	chr5:53054305-53054306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114971214	chr5:53054396-53054397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372525875	chr5:53054399-53054400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142518016	chr5:53054406-53054407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555257595	chr5:53054517-53054518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186677380	chr5:53054531-53054532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544011900	chr5:53054543-53054544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555983039	chr5:53054569-53054570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191572687	chr5:53054573-53054574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13161192	chr5:53054584-53054585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556179633	chr5:53054631-53054632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560620821	chr5:53054641-53054642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527703507	chr5:53054702-53054703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370917043	chr5:53054721-53054722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201139208	chr5:53054762-53054763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144779898	chr5:53054836-53054837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74399317	chr5:53054849-53054850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551387644	chr5:53054880-53054881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75540361	chr5:53054904-53054905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138743111	chr5:53054950-53054951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550484466	chr5:53054962-53054963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571793442	chr5:53054989-53054990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183825598	chr5:53054992-53054993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs70986639	chr5:53055027-53055028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs391694	chr5:53055030-53055031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190613	chr5:53055038-53055039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53053000-53055800	Weak transcription	Right Atrium	heart
2	chr5:53056800-53057200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:53057000-53057400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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