Variant report

Variant	esv3381451
Chromosome Location	chr8:52216799-52219047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540940254	chr8:52216840-52216841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545124575	chr8:52216854-52216855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577897200	chr8:52216875-52216876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201987211	chr8:52216880-52216881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545282790	chr8:52216919-52216920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556937478	chr8:52216932-52216933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371338780	chr8:52216957-52216958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374394952	chr8:52216959-52216960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542817003	chr8:52216987-52216988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386725268	chr8:52217000-52217001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575920665	chr8:52217056-52217057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532975487	chr8:52217114-52217115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112195936	chr8:52217227-52217228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529391429	chr8:52217230-52217231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541107623	chr8:52217240-52217241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559695708	chr8:52217242-52217243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533127505	chr8:52217279-52217280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7818710	chr8:52217293-52217294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561649604	chr8:52217370-52217371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569978746	chr8:52217372-52217373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372030571	chr8:52217389-52217390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549142417	chr8:52217475-52217476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376960214	chr8:52217526-52217527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113824359	chr8:52217571-52217572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530308347	chr8:52217614-52217615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200922531	chr8:52217654-52217655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528941863	chr8:52217656-52217657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146041295	chr8:52217670-52217671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12542011	chr8:52217685-52217686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534704120	chr8:52217743-52217744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114702786	chr8:52217747-52217748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543531025	chr8:52217752-52217753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185286422	chr8:52217765-52217766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545991681	chr8:52217847-52217848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188604335	chr8:52217854-52217855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538225390	chr8:52217877-52217878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557246044	chr8:52217878-52217879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148267797	chr8:52217930-52217931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560282816	chr8:52217945-52217946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532489576	chr8:52217950-52217951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141441416	chr8:52217952-52217953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552261719	chr8:52217953-52217954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541519268	chr8:52217959-52217960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150822447	chr8:52217969-52217970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533378531	chr8:52218012-52218013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368262460	chr8:52218013-52218014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193271445	chr8:52218014-52218015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372431700	chr8:52218016-52218017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557623207	chr8:52218023-52218024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531092348	chr8:52218027-52218028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52215400-52221800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:52218000-52218200	Enhancers	Fetal Brain Male	brain

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