Variant report

Variant	nsv526889
Chromosome Location	chr8:60656194-60667231
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	chr8:60655022..60657842-chr8:60658426..60661033,2	K562	blood:
2	chr8:60655022..60657842-chr8:60658426..60661033,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145707084	chr8:60666405-60666406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571829896	chr8:60666406-60666407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561380528	chr8:60666411-60666412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369597542	chr8:60666431-60666432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73680692	chr8:60666447-60666448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144495114	chr8:60666461-60666462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79186085	chr8:60666542-60666543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28678769	chr8:60666572-60666573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192076641	chr8:60666574-60666575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527435899	chr8:60666661-60666662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549172092	chr8:60666664-60666665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537221500	chr8:60666670-60666671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538164109	chr8:60666704-60666705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6471802	chr8:60666719-60666720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557024665	chr8:60666722-60666723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571705471	chr8:60666762-60666763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140011936	chr8:60666834-60666835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143729509	chr8:60666841-60666842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374026209	chr8:60666870-60666871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151267732	chr8:60666888-60666889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140833106	chr8:60666960-60666961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555164606	chr8:60666976-60666977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149709133	chr8:60666985-60666986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185286095	chr8:60667038-60667039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190213759	chr8:60667152-60667153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182447457	chr8:60667164-60667165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6471803	chr8:60667231-60667232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:93)

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
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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60666400-60666600	Enhancers	Fetal Brain Female	brain
2	chr8:60666600-60667600	Weak transcription	Fetal Brain Female	brain

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