Variant report

Variant	nsv518401
Chromosome Location	chr8:4386070-4396601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4557723	chr8:4386070-4386071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539387595	chr8:4386084-4386085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571780517	chr8:4386087-4386088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539162930	chr8:4386122-4386123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572226520	chr8:4386125-4386126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546552380	chr8:4386131-4386132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576161201	chr8:4386134-4386135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543650928	chr8:4386158-4386159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561828179	chr8:4386160-4386161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs36188297	chr8:4386194-4386195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185259899	chr8:4395211-4395212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs554019133	chr8:4395229-4395230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs140578588	chr8:4395235-4395236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs189573431	chr8:4395246-4395247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs79043716	chr8:4395262-4395263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192828689	chr8:4395305-4395306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544689132	chr8:4395306-4395307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs150488707	chr8:4395320-4395321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs12676680	chr8:4395323-4395324	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574958144	chr8:4395325-4395326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs567223191	chr8:4395345-4395346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs533483170	chr8:4395346-4395347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs183663462	chr8:4395356-4395357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs527991752	chr8:4395359-4395360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545355330	chr8:4395366-4395367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs77173982	chr8:4395373-4395374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs563744330	chr8:4395380-4395381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs138122664	chr8:4395400-4395401	ZNF genes & repeats	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4384400-4386200	Enhancers	Fetal Heart	heart
2	chr8:4395200-4395400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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