Variant report

Variant	nsv1030164
Chromosome Location	chr8:6016570-6031933
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	chr10:132324298..132325038-chr8:6023084..6023812,2	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375125874	chr8:6020810-6020811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547935201	chr8:6020827-6020828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375034041	chr8:6020839-6020840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374035215	chr8:6020846-6020847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117430329	chr8:6020847-6020848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547654493	chr8:6020892-6020893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142303442	chr8:6020893-6020894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539772465	chr8:6020901-6020902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151271073	chr8:6020908-6020909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2552277	chr8:6020919-6020920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545567267	chr8:6020921-6020922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73512091	chr8:6020930-6020931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555533689	chr8:6020939-6020940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572253733	chr8:6020941-6020942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541209663	chr8:6020948-6020949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565308699	chr8:6020953-6020954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140012448	chr8:6020957-6020958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145342942	chr8:6020958-6020959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371197089	chr8:6020963-6020964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147672022	chr8:6020984-6020985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144160928	chr8:6023806-6023807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146472203	chr8:6023819-6023820	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs372042155	chr8:6023827-6023828	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532998885	chr8:6023839-6023840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs7828147	chr8:6023848-6023849	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs77326405	chr8:6023852-6023853	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528216958	chr8:6023854-6023855	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs541436224	chr8:6023865-6023866	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs184296429	chr8:6023878-6023879	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189629430	chr8:6023884-6023885	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs371894940	chr8:6023892-6023893	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs143418999	chr8:6023897-6023898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs34179728	chr8:6023903-6023904	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs551599709	chr8:6023904-6023905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs181270025	chr8:6023911-6023912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs369822054	chr8:6023912-6023913	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2552274	chr8:6023922-6023923	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545465786	chr8:6023930-6023931	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs557629832	chr8:6023944-6023945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556716701	chr8:6023948-6023949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs183984738	chr8:6023952-6023953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs555431132	chr8:6023975-6023976	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs77275346	chr8:6024001-6024002	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs572094518	chr8:6024014-6024015	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs146693222	chr8:6024015-6024016	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs557579963	chr8:6024017-6024018	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs188719127	chr8:6024045-6024046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs571018559	chr8:6024050-6024051	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs543302591	chr8:6024057-6024058	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs559266589	chr8:6024071-6024072	Active TSS	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6020800-6021000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:6023800-6024200	Active TSS	Gastric	stomach
3	chr8:6028200-6028400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:6028400-6028800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:6028800-6029000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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