Variant report

Variant	nsv522042
Chromosome Location	chr8:4809835-4811098
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	chr8:4805755..4808307-chr8:4809361..4811905,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9285040	chr8:4809835-4809836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60411334	chr8:4809865-4809866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58705919	chr8:4809866-4809867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59287348	chr8:4809869-4809870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35179533	chr8:4809870-4809871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56786975	chr8:4809872-4809873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527930232	chr8:4809886-4809887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559265509	chr8:4809910-4809911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7818617	chr8:4809916-4809917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150761557	chr8:4809920-4809921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12675859	chr8:4809932-4809933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs531694005	chr8:4809933-4809934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139143613	chr8:4809938-4809939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7840102	chr8:4809957-4809958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529346341	chr8:4809987-4809988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187261273	chr8:4809995-4809996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192689940	chr8:4809996-4809997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79133637	chr8:4809997-4809998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558085486	chr8:4810007-4810008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368348035	chr8:4810025-4810026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149548819	chr8:4810032-4810033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536726250	chr8:4810044-4810045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7818908	chr8:4810086-4810087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184635374	chr8:4810116-4810117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540636750	chr8:4810127-4810128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189204866	chr8:4810138-4810139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73173781	chr8:4810143-4810144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60116724	chr8:4810146-4810147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545318202	chr8:4810195-4810196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7836826	chr8:4810198-4810199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs201028808	chr8:4810205-4810206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71515691	chr8:4810206-4810207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7836834	chr8:4810207-4810208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192524833	chr8:4810236-4810237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144120229	chr8:4810299-4810300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371781699	chr8:4810315-4810316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4289841	chr8:4810316-4810317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs139831573	chr8:4810342-4810343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555760424	chr8:4810343-4810344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552080244	chr8:4810354-4810355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570149725	chr8:4810356-4810357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184777036	chr8:4810387-4810388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117036174	chr8:4810390-4810391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189193635	chr8:4810398-4810399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534284068	chr8:4810401-4810402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181652794	chr8:4810405-4810406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577592393	chr8:4810414-4810415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544968765	chr8:4810434-4810435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368708653	chr8:4810435-4810436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575304402	chr8:4810466-4810467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4807400-4811200	Weak transcription	Adipose Nuclei	Adipose
2	chr8:4810400-4811200	Enhancers	Liver	Liver

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