Variant report

Variant	esv3419713
Chromosome Location	chr8:69816498-69820696
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	chr8:69813641..69815501-chr8:69817466..69820141,2	MCF-7	breast:

Extended variants
information (count: 244 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147784101	chr8:69816504-69816505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375112915	chr8:69816535-69816536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78136912	chr8:69816555-69816556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540565032	chr8:69816587-69816588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141182978	chr8:69816621-69816622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535601675	chr8:69816628-69816629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72652148	chr8:69816629-69816630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189251656	chr8:69816700-69816701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557409348	chr8:69816701-69816702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531718109	chr8:69816778-69816779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116287123	chr8:69816858-69816859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73273763	chr8:69816862-69816863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7831894	chr8:69816884-69816885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546946196	chr8:69816917-69816918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566797398	chr8:69816934-69816935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115036647	chr8:69816965-69816966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140842696	chr8:69816966-69816967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62511327	chr8:69817047-69817048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368345952	chr8:69817064-69817065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192484358	chr8:69817091-69817092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184943615	chr8:69817103-69817104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571188402	chr8:69817110-69817111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534198905	chr8:69817188-69817189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111489226	chr8:69817189-69817190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188974750	chr8:69817190-69817191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180980797	chr8:69817193-69817194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542768554	chr8:69817198-69817199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556480222	chr8:69817229-69817230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576474874	chr8:69817272-69817273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545208885	chr8:69817283-69817284	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534516746	chr8:69817308-69817309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565262985	chr8:69817336-69817337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527660234	chr8:69817379-69817380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541453156	chr8:69817417-69817418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560449783	chr8:69817475-69817476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186102270	chr8:69817476-69817477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564631383	chr8:69817491-69817492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573161680	chr8:69817516-69817517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150148696	chr8:69817523-69817524	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189769291	chr8:69817540-69817541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568997376	chr8:69817579-69817580	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531419293	chr8:69817585-69817586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551216425	chr8:69817592-69817593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138751815	chr8:69817617-69817618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62511328	chr8:69817618-69817619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141898527	chr8:69817628-69817629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144934233	chr8:69817631-69817632	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138817155	chr8:69817632-69817633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536593754	chr8:69817670-69817671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75822731	chr8:69817678-69817679	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69808000-69833000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:69817200-69818200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:69818200-69824800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:69820400-69820800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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