Variant report

Variant	nsv6173
Chromosome Location	chr8:47588530-47601772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6558279	chr8:47596697-47596698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557107984	chr8:47596707-47596708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377423826	chr8:47596712-47596713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545853389	chr8:47596742-47596743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542845492	chr8:47596903-47596904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561182714	chr8:47596921-47596922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547587157	chr8:47596945-47596946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528364507	chr8:47597068-47597069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570981304	chr8:47597125-47597126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs36097932	chr8:47597129-47597130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565108967	chr8:47597172-47597173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533568753	chr8:47597186-47597187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190267760	chr8:47597194-47597195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550628700	chr8:47597272-47597273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534664213	chr8:47597319-47597320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530187134	chr8:47597339-47597340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548372322	chr8:47597399-47597400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4425768	chr8:47597492-47597493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs34826480	chr8:47597500-47597501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55696034	chr8:47597598-47597599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397732581	chr8:47597610-47597611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199695130	chr8:47597611-47597612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376205034	chr8:47597613-47597614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80256301	chr8:47597622-47597623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75139759	chr8:47597623-47597624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570402055	chr8:47597655-47597656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182125383	chr8:47597670-47597671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375915628	chr8:47597673-47597674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186854984	chr8:47597683-47597684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554024664	chr8:47597686-47597687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376128277	chr8:47597700-47597701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377639651	chr8:47597703-47597704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531292951	chr8:47597718-47597719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193048739	chr8:47597886-47597887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184167617	chr8:47597918-47597919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34494749	chr8:47597931-47597932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1917556	chr8:47597934-47597935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs554449250	chr8:47597956-47597957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188307995	chr8:47598050-47598051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540126793	chr8:47598121-47598122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193193921	chr8:47598165-47598166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs66602632	chr8:47598186-47598187	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544206539	chr8:47598213-47598214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547224926	chr8:47598253-47598254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138017607	chr8:47598273-47598274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536867262	chr8:47598299-47598300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562592977	chr8:47598349-47598350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530125211	chr8:47598357-47598358	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Oral cancer	21386901	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
Lung cancer	18438408	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
Acute myeloid leukemia	21251322	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
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47596600-47596800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:47596800-47597800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:47597800-47598400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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