Variant report

Variant	nsv1020980
Chromosome Location	chr8:5089581-5130251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs187589126	chr8:5096400-5096401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs565189830	chr8:5096411-5096412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs578261516	chr8:5096427-5096428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs532247408	chr8:5096435-5096436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs143190315	chr8:5096436-5096437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs62489615	chr8:5096446-5096447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs530943537	chr8:5096450-5096451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549456360	chr8:5096467-5096468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs141552785	chr8:5096471-5096472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs528497335	chr8:5096480-5096481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs546628530	chr8:5096483-5096484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571990009	chr8:5096487-5096488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs11786616	chr8:5096506-5096507	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529272871	chr8:5096508-5096509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs116748407	chr8:5096519-5096520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569451732	chr8:5096525-5096526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs75087218	chr8:5096560-5096561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs554638455	chr8:5096591-5096592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs192401656	chr8:5096603-5096604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs146190745	chr8:5096636-5096637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73190959	chr8:5096645-5096646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs558232900	chr8:5096647-5096648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576761704	chr8:5096652-5096653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184957397	chr8:5096674-5096675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs371818057	chr8:5096679-5096680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs142496190	chr8:5096680-5096681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541622071	chr8:5096691-5096692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs549427522	chr8:5096712-5096713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs150534617	chr8:5096714-5096715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs139365506	chr8:5096720-5096721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546985824	chr8:5096722-5096723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs369983239	chr8:5096735-5096736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs189275564	chr8:5096741-5096742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs61491930	chr8:5096756-5096757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs192306576	chr8:5096769-5096770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs60093168	chr8:5096792-5096793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs144403685	chr8:5096799-5096800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs548466475	chr8:5096805-5096806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566578211	chr8:5096816-5096817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs375451815	chr8:5096823-5096824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs7834363	chr8:5096838-5096839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141051907	chr8:5096845-5096846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs576429018	chr8:5096858-5096859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs144912653	chr8:5096876-5096877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs147887946	chr8:5096888-5096889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs574347263	chr8:5096892-5096893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs34027061	chr8:5096902-5096903	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560053187	chr8:5096905-5096906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs148271049	chr8:5096907-5096908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs573319858	chr8:5096909-5096910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Ductal carcinoma	22052326	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
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD
early-passage human iPS cells	21368824	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5096400-5097000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:5102800-5103200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:5116200-5116600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:5116400-5116600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:5116600-5117400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:5117400-5117600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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