Variant report

Variant	esv11523
Chromosome Location	chr5:106248534-106255784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 309 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538752590	chr5:106248544-106248545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558970790	chr5:106248619-106248620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569088984	chr5:106248665-106248666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530940105	chr5:106248666-106248667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201985244	chr5:106248715-106248716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550962029	chr5:106248717-106248718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55750208	chr5:106248718-106248719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536726670	chr5:106248753-106248754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553568528	chr5:106248779-106248780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151270307	chr5:106248809-106248810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539176003	chr5:106248820-106248821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187662035	chr5:106248830-106248831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192874635	chr5:106248838-106248839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568681080	chr5:106248842-106248843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559236453	chr5:106248870-106248871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140521843	chr5:106248886-106248887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574228453	chr5:106248904-106248905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376663206	chr5:106248913-106248914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539943466	chr5:106248954-106248955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374926056	chr5:106248976-106248977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34226241	chr5:106248993-106248994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560532680	chr5:106248994-106248995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397883884	chr5:106249009-106249010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560342528	chr5:106249013-106249014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576971377	chr5:106249046-106249047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7734976	chr5:106249047-106249048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs35005479	chr5:106249064-106249065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548230633	chr5:106249070-106249071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551027587	chr5:106249073-106249074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59234027	chr5:106249090-106249091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530552172	chr5:106249106-106249107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530262092	chr5:106249116-106249117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372874853	chr5:106249117-106249118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375770853	chr5:106249119-106249120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538875311	chr5:106249125-106249126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190275546	chr5:106249132-106249133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369041110	chr5:106249141-106249142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112053618	chr5:106249153-106249154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544076825	chr5:106249182-106249183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554184296	chr5:106249203-106249204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183484502	chr5:106249213-106249214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574092040	chr5:106249242-106249243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141230103	chr5:106249257-106249258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572476491	chr5:106249262-106249263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553598245	chr5:106249288-106249289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576840197	chr5:106249291-106249292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545702637	chr5:106249314-106249315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562655062	chr5:106249316-106249317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576442863	chr5:106249400-106249401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74422670	chr5:106249405-106249406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106242400-106252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:106252200-106252800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:106252800-106256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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