Variant report

Variant	nsv8273
Chromosome Location	chr8:6080018-6081640
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	chr8:6080157..6081666-chr8:6091415..6093477,2	MCF-7	breast:
2	chr8:6079332..6082540-chr8:6084426..6086508,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4576443	chr8:6080857-6080858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551856464	chr8:6080860-6080861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192287804	chr8:6080882-6080883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143683056	chr8:6080917-6080918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548346189	chr8:6080942-6080943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559881686	chr8:6080950-6080951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73190720	chr8:6080973-6080974	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183655069	chr8:6080977-6080978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10091876	chr8:6081004-6081005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146830409	chr8:6081017-6081018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539749286	chr8:6081022-6081023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187432816	chr8:6081023-6081024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535553190	chr8:6081036-6081037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575212876	chr8:6081047-6081048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555397103	chr8:6081049-6081050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572218454	chr8:6081052-6081053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544214758	chr8:6081068-6081069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376534587	chr8:6081090-6081091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79604982	chr8:6081109-6081110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563212817	chr8:6081117-6081118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564722882	chr8:6081141-6081142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201225676	chr8:6081165-6081166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199667854	chr8:6081166-6081167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11318263	chr8:6081167-6081168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202108585	chr8:6081169-6081170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369447401	chr8:6081188-6081189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578169486	chr8:6081190-6081191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373785220	chr8:6081229-6081230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544126648	chr8:6081230-6081231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545638985	chr8:6081237-6081238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148922796	chr8:6081259-6081260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531381962	chr8:6081300-6081301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189717453	chr8:6081302-6081303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559487644	chr8:6081307-6081308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182373869	chr8:6081313-6081314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528319608	chr8:6081324-6081325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527405145	chr8:6081335-6081336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4991231	chr8:6081360-6081361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187084779	chr8:6081377-6081378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539345677	chr8:6081379-6081380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550099033	chr8:6081385-6081386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191914726	chr8:6081411-6081412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11782303	chr8:6081423-6081424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535420542	chr8:6081428-6081429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183656833	chr8:6081429-6081430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368981360	chr8:6081437-6081438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188183512	chr8:6081445-6081446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368681178	chr8:6081450-6081451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150946947	chr8:6081468-6081469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61577829	chr8:6081469-6081470	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6080800-6081800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:6080800-6082000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:6081400-6087800	Enhancers	Primary neutrophils fromperipheralblood	blood

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