Variant report

Variant	nsv611379
Chromosome Location	chr8:54512490-54516605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199962949	chr8:54512490-54512491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386725483	chr8:54512506-54512507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113721408	chr8:54512507-54512508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7465481	chr8:54512508-54512509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540821819	chr8:54512514-54512515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149944638	chr8:54512597-54512598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188195492	chr8:54512606-54512607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7465505	chr8:54512625-54512626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563706124	chr8:54512631-54512632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528405517	chr8:54512743-54512744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562976200	chr8:54512756-54512757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529232473	chr8:54512806-54512807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145098309	chr8:54512823-54512824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559589471	chr8:54512829-54512830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181381744	chr8:54512842-54512843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185666446	chr8:54512928-54512929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112929281	chr8:54512947-54512948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368249729	chr8:54512949-54512950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190820826	chr8:54512971-54512972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551248702	chr8:54513050-54513051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569641130	chr8:54513084-54513085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535093692	chr8:54513094-54513095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555482939	chr8:54513096-54513097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148661200	chr8:54513097-54513098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534381974	chr8:54513103-54513104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181918155	chr8:54513118-54513119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80164108	chr8:54513128-54513129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543323857	chr8:54513135-54513136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563427465	chr8:54513212-54513213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146810372	chr8:54513234-54513235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140630508	chr8:54513238-54513239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559832249	chr8:54513286-54513287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7465670	chr8:54513287-54513288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559810173	chr8:54513302-54513303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186562614	chr8:54513306-54513307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565480701	chr8:54513355-54513356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79643482	chr8:54513364-54513365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528742154	chr8:54513456-54513457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10093917	chr8:54513478-54513479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs145711095	chr8:54513485-54513486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371141537	chr8:54513487-54513488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548721732	chr8:54513521-54513522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565646062	chr8:54513528-54513529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534417154	chr8:54513547-54513548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557393430	chr8:54513613-54513614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571861541	chr8:54513626-54513627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192351473	chr8:54513642-54513643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183721853	chr8:54513681-54513682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186781552	chr8:54513684-54513685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573838358	chr8:54513697-54513698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
low-grade B-cell lymphoma tumor	18367492	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54511400-54516000	Weak transcription	Aorta	Aorta
2	chr8:54516000-54516200	Enhancers	Aorta	Aorta

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