Variant report

Variant	nsv516545
Chromosome Location	chr8:4659322-4661660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 212 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12677863	chr8:4659322-4659323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552542907	chr8:4659324-4659325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150528511	chr8:4659335-4659336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78619957	chr8:4659343-4659344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201296549	chr8:4659358-4659359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557094316	chr8:4659378-4659379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12678251	chr8:4659380-4659381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536351401	chr8:4659386-4659387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193033866	chr8:4659388-4659389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573141806	chr8:4659395-4659396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528939531	chr8:4659398-4659399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143946770	chr8:4659412-4659413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577140521	chr8:4659415-4659416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79623434	chr8:4659437-4659438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184940801	chr8:4659460-4659461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562352896	chr8:4659466-4659467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147326207	chr8:4659467-4659468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541605649	chr8:4659487-4659488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141066405	chr8:4659500-4659501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189833466	chr8:4659506-4659507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73179697	chr8:4659536-4659537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570629967	chr8:4659547-4659548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117233798	chr8:4659548-4659549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550004987	chr8:4659559-4659560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180984987	chr8:4659560-4659561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533765265	chr8:4659571-4659572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12675793	chr8:4659576-4659577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566605794	chr8:4659577-4659578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573611721	chr8:4659581-4659582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534001857	chr8:4659605-4659606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12678702	chr8:4659606-4659607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12680174	chr8:4659628-4659629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538157566	chr8:4659645-4659646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185261802	chr8:4659649-4659650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574388253	chr8:4659650-4659651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17071406	chr8:4659687-4659688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs118049472	chr8:4659697-4659698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188159760	chr8:4659714-4659715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545874917	chr8:4659730-4659731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114577896	chr8:4659731-4659732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17347946	chr8:4659738-4659739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549848464	chr8:4659740-4659741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576011654	chr8:4659755-4659756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10097166	chr8:4659757-4659758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370451059	chr8:4659764-4659765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34130715	chr8:4659767-4659768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548198784	chr8:4659783-4659784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566494198	chr8:4659788-4659789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541660748	chr8:4659799-4659800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181993622	chr8:4659804-4659805	Weak transcription	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
Breast cancer	21364760	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
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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4658400-4670600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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