Variant report

Variant	esv3395701
Chromosome Location	chr5:52818845-52820093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186659982	chr5:52818889-52818890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192765192	chr5:52818903-52818904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540940082	chr5:52818985-52818986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116465856	chr5:52819052-52819053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371962987	chr5:52819067-52819068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540138679	chr5:52819080-52819081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184569854	chr5:52819092-52819093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7725696	chr5:52819112-52819113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542050285	chr5:52819133-52819134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549718551	chr5:52819165-52819166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188307248	chr5:52819178-52819179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13160046	chr5:52819197-52819198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531060541	chr5:52819224-52819225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192794344	chr5:52819237-52819238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138084777	chr5:52819243-52819244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375357050	chr5:52819249-52819250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142170063	chr5:52819280-52819281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564294311	chr5:52819281-52819282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528499126	chr5:52819282-52819283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13168083	chr5:52819283-52819284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58461059	chr5:52819296-52819297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143164318	chr5:52819297-52819298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148270811	chr5:52819312-52819313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368013957	chr5:52819316-52819317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555430032	chr5:52819323-52819324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546935148	chr5:52819334-52819335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369340160	chr5:52819369-52819370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372553187	chr5:52819370-52819371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59862008	chr5:52819407-52819408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10071489	chr5:52819408-52819409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568737074	chr5:52819411-52819412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535652580	chr5:52819413-52819414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550804427	chr5:52819414-52819415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10071494	chr5:52819422-52819423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10069965	chr5:52819428-52819429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371234276	chr5:52819535-52819536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1895442	chr5:52819554-52819555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536780511	chr5:52819564-52819565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189062249	chr5:52819648-52819649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1895443	chr5:52819735-52819736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141386809	chr5:52819740-52819741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181763553	chr5:52819758-52819759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543069916	chr5:52819793-52819794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574716872	chr5:52819901-52819902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555366913	chr5:52819920-52819921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75200949	chr5:52819942-52819943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140418556	chr5:52819943-52819944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184777228	chr5:52819946-52819947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188983467	chr5:52819962-52819963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372756469	chr5:52820007-52820008	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	18641027	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52809200-52833600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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