Variant report

Variant	esv19596
Chromosome Location	chr8:59682320-59684458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59678798..59682345-chr8:59683547..59687319,3	K562	blood:
2	chr8:59678798..59682345-chr8:59683547..59687319,3	K562	blood:
3	chr8:59680938..59683513-chr8:59718663..59720375,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 88 )

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	rs186780367	chr8:59682327-59682328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148474465	chr8:59682413-59682414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2634519	chr8:59682414-59682415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190491632	chr8:59682463-59682464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142708002	chr8:59682481-59682482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181680111	chr8:59682551-59682552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558030951	chr8:59682554-59682555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145935924	chr8:59682567-59682568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7000903	chr8:59682671-59682672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs139828905	chr8:59682673-59682674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143268498	chr8:59682735-59682736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146708059	chr8:59682762-59682763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553924453	chr8:59682784-59682785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559499488	chr8:59682809-59682810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530340947	chr8:59682837-59682838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555499357	chr8:59682876-59682877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140205053	chr8:59682934-59682935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2726551	chr8:59682942-59682943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs564787573	chr8:59683012-59683013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77598373	chr8:59683054-59683055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs33993777	chr8:59683055-59683056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200222854	chr8:59683056-59683057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186164971	chr8:59683066-59683067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73254320	chr8:59683089-59683090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563497016	chr8:59683103-59683104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529457741	chr8:59683113-59683114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549058665	chr8:59683165-59683166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565884718	chr8:59683166-59683167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190972907	chr8:59683168-59683169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150023112	chr8:59683178-59683179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369819391	chr8:59683268-59683269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114201955	chr8:59683281-59683282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557295988	chr8:59683301-59683302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573839213	chr8:59683303-59683304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536490627	chr8:59683310-59683311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145362802	chr8:59683333-59683334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60119299	chr8:59683341-59683342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2693433	chr8:59683356-59683357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs71521428	chr8:59683366-59683367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541454468	chr8:59683379-59683380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182667328	chr8:59683380-59683381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543435389	chr8:59683381-59683382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149208459	chr8:59683395-59683396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2634520	chr8:59683401-59683402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187625335	chr8:59683420-59683421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191227976	chr8:59683438-59683439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2634521	chr8:59683470-59683471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs115861016	chr8:59683532-59683533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541251510	chr8:59683543-59683544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182975859	chr8:59683561-59683562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
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
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
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59681400-59685200	Weak transcription	Hela-S3	cervix
2	chr8:59681800-59682400	Enhancers	HUVEC	blood vessel
3	chr8:59682000-59689000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:59682200-59687200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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