Variant report

Variant	nsv611447
Chromosome Location	chr8:63867493-63883593
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	chr8:63878030..63880245-chr8:63911061..63912789,2	K562	blood:
2	chr8:63883110..63885219-chr8:64022208..64024652,2	K562	blood:

Extended variants
information (count: 672 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7835051	chr8:63867493-63867494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184849698	chr8:63867528-63867529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188496290	chr8:63867529-63867530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181687491	chr8:63867555-63867556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533900241	chr8:63867578-63867579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79103675	chr8:63867581-63867582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112587625	chr8:63867591-63867592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200376179	chr8:63867606-63867607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537983478	chr8:63867652-63867653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140848130	chr8:63867659-63867660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577862931	chr8:63867684-63867685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12676761	chr8:63867814-63867815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185820630	chr8:63867841-63867842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28680269	chr8:63867847-63867848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542231486	chr8:63867973-63867974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560893606	chr8:63867975-63867976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4570149	chr8:63867979-63867980	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543580814	chr8:63867987-63867988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565070478	chr8:63868018-63868019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532160186	chr8:63868040-63868041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547578263	chr8:63868044-63868045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559349402	chr8:63868093-63868094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541512320	chr8:63868094-63868095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575652678	chr8:63868095-63868096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531800280	chr8:63868103-63868104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57138912	chr8:63868146-63868147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs16929941	chr8:63868149-63868150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188771808	chr8:63868169-63868170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148969256	chr8:63868180-63868181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17277118	chr8:63868216-63868217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571725712	chr8:63868239-63868240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367785543	chr8:63868240-63868241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554368452	chr8:63868271-63868272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572628454	chr8:63868284-63868285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74600226	chr8:63868290-63868291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182132585	chr8:63868323-63868324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554593721	chr8:63868337-63868338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187258227	chr8:63868350-63868351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138362226	chr8:63868358-63868359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190838258	chr8:63868390-63868391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143907094	chr8:63868392-63868393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147280695	chr8:63868395-63868396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12543961	chr8:63868434-63868435	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542224323	chr8:63868475-63868476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139023155	chr8:63868525-63868526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549915301	chr8:63868527-63868528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541769368	chr8:63868605-63868606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565061143	chr8:63868606-63868607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531561870	chr8:63868609-63868610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549782146	chr8:63868692-63868693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
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
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
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63859600-63877800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63866600-63867800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:63867800-63868000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:63867800-63868600	Enhancers	Fetal Brain Female	brain
5	chr8:63868200-63869200	Enhancers	Fetal Brain Male	brain
6	chr8:63868600-63895800	Weak transcription	Fetal Brain Female	brain
7	chr8:63870800-63871200	Enhancers	Placenta	Placenta
8	chr8:63871200-63871600	Weak transcription	Placenta	Placenta
9	chr8:63871600-63871800	Enhancers	Placenta	Placenta
10	chr8:63871800-63875400	Weak transcription	Placenta	Placenta
11	chr8:63875400-63876600	Enhancers	Placenta	Placenta
12	chr8:63877400-63878000	Enhancers	Brain Germinal Matrix	brain
13	chr8:63877800-63880200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:63878000-63892000	Weak transcription	Brain Germinal Matrix	brain
15	chr8:63880200-63888000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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