Variant report

Variant	esv3385384
Chromosome Location	chr8:89364086-89366384
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	chr8:89364571..89367523-chr8:89369307..89370876,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184259705	chr8:89364124-89364125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189203721	chr8:89364145-89364146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181069526	chr8:89364185-89364186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550251016	chr8:89364207-89364208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570082822	chr8:89364218-89364219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571777805	chr8:89364227-89364228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533114038	chr8:89364283-89364284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551310594	chr8:89364297-89364298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566688219	chr8:89364301-89364302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113264642	chr8:89364365-89364366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7837986	chr8:89364389-89364390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183904757	chr8:89364390-89364391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7815459	chr8:89364410-89364411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373641075	chr8:89364422-89364423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555801421	chr8:89364444-89364445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77435745	chr8:89364451-89364452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147419517	chr8:89364492-89364493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554054407	chr8:89364516-89364517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572637676	chr8:89364563-89364564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542945280	chr8:89364626-89364627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75059005	chr8:89364669-89364670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531696931	chr8:89364673-89364674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543852948	chr8:89364696-89364697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139677729	chr8:89364712-89364713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565348953	chr8:89364718-89364719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532479016	chr8:89364720-89364721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34832292	chr8:89364762-89364763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77299586	chr8:89364780-89364781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377587283	chr8:89364802-89364803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111310972	chr8:89364857-89364858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369935293	chr8:89364864-89364865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566540105	chr8:89364955-89364956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527531656	chr8:89364956-89364957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548821057	chr8:89364965-89364966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181514962	chr8:89364979-89364980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202140356	chr8:89364987-89364988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537416109	chr8:89364996-89364997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145456309	chr8:89365025-89365026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145200245	chr8:89365038-89365039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145419476	chr8:89365041-89365042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs66985881	chr8:89365058-89365059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59408019	chr8:89365060-89365061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61111934	chr8:89365061-89365062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386413295	chr8:89365072-89365073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186968628	chr8:89365092-89365093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4378010	chr8:89365099-89365100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192109080	chr8:89365118-89365119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553876339	chr8:89365200-89365201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147594649	chr8:89365246-89365247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536846503	chr8:89365247-89365248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89357600-89365800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:89365400-89366000	Enhancers	Fetal Lung	lung
3	chr8:89366000-89374400	Weak transcription	Fetal Lung	lung

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