Variant report

Variant	esv3391589
Chromosome Location	chr5:58025195-58026393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58022097..58023766-chr5:58024865..58027239,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181522421	chr5:58025251-58025252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139372269	chr5:58025284-58025285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549238954	chr5:58025285-58025286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567733728	chr5:58025292-58025293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35569057	chr5:58025305-58025306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537867255	chr5:58025315-58025316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373196127	chr5:58025359-58025360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150005253	chr5:58025390-58025391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571566878	chr5:58025445-58025446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72760302	chr5:58025448-58025449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187052577	chr5:58025468-58025469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565926767	chr5:58025486-58025487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191700143	chr5:58025507-58025508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145254926	chr5:58025508-58025509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12659579	chr5:58025513-58025514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576062234	chr5:58025527-58025528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71626119	chr5:58025562-58025563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200099497	chr5:58025578-58025579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533318632	chr5:58025610-58025611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6895043	chr5:58025624-58025625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543055532	chr5:58025678-58025679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13359889	chr5:58025683-58025684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576422592	chr5:58025712-58025713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185627389	chr5:58025721-58025722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560392179	chr5:58025722-58025723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566791089	chr5:58025741-58025742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540894051	chr5:58025757-58025758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142326848	chr5:58025769-58025770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11357252	chr5:58025793-58025794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189695585	chr5:58025797-58025798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532354805	chr5:58025820-58025821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531783710	chr5:58025828-58025829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182207140	chr5:58025883-58025884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571707332	chr5:58025909-58025910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372812853	chr5:58025932-58025933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144619696	chr5:58025962-58025963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547739666	chr5:58025973-58025974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34833784	chr5:58026046-58026047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565962023	chr5:58026080-58026081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113234996	chr5:58026096-58026097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147629938	chr5:58026194-58026195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569663021	chr5:58026197-58026198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs293008	chr5:58026255-58026256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558228158	chr5:58026341-58026342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58022800-58029000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:58025000-58026600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:58026200-58026400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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