Variant report

Variant	esv3389982
Chromosome Location	chr5:99306253-99309851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542980861	chr5:99306283-99306284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149065156	chr5:99306289-99306290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs33977980	chr5:99306329-99306330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201271869	chr5:99306332-99306333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570679269	chr5:99306369-99306370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540766308	chr5:99306400-99306401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559542772	chr5:99306451-99306452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564229798	chr5:99306454-99306455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142128910	chr5:99306456-99306457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551728934	chr5:99306461-99306462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10054880	chr5:99306483-99306484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553346543	chr5:99306497-99306498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531750361	chr5:99306515-99306516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550107089	chr5:99306545-99306546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370943195	chr5:99306564-99306565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2927418	chr5:99306574-99306575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535988609	chr5:99306581-99306582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181952422	chr5:99306614-99306615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185471789	chr5:99306648-99306649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189602202	chr5:99306649-99306650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180834688	chr5:99306675-99306676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140572597	chr5:99306699-99306700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11241330	chr5:99306709-99306710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535853761	chr5:99306746-99306747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186758595	chr5:99306786-99306787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57150819	chr5:99306835-99306836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555387690	chr5:99306872-99306873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573548009	chr5:99306925-99306926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541158059	chr5:99306937-99306938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559165680	chr5:99306953-99306954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551622439	chr5:99306989-99306990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113062445	chr5:99307038-99307039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10478235	chr5:99307052-99307053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545191999	chr5:99307076-99307077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145893634	chr5:99307102-99307103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530777598	chr5:99307112-99307113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549000638	chr5:99307127-99307128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373547169	chr5:99307193-99307194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568482653	chr5:99307242-99307243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529256768	chr5:99307246-99307247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202194472	chr5:99307250-99307251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190265760	chr5:99307261-99307262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181129035	chr5:99307278-99307279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201027591	chr5:99307322-99307323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186173612	chr5:99307374-99307375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375660972	chr5:99307394-99307395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190536950	chr5:99307404-99307405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184173904	chr5:99307467-99307468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577065102	chr5:99307499-99307500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374923962	chr5:99307555-99307556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99305800-99309200	Weak transcription	Fetal Lung	lung
2	chr5:99309200-99309400	Enhancers	Fetal Lung	lung

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