Variant report

Variant	nsv1030239
Chromosome Location	chr8:4282088-4305779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 684 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144071862	chr8:4284600-4284601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79044444	chr8:4284604-4284605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs4875342	chr8:4284614-4284615	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560192401	chr8:4284633-4284634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs527289515	chr8:4284635-4284636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs369798365	chr8:4284637-4284638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs6983396	chr8:4284654-4284655	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375472072	chr8:4284657-4284658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs114667521	chr8:4284680-4284681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs4875102	chr8:4284692-4284693	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
11	rs116851024	chr8:4284713-4284714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs565208227	chr8:4284714-4284715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs536036549	chr8:4284745-4284746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs193175594	chr8:4284751-4284752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs116187087	chr8:4284752-4284753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs539456709	chr8:4284753-4284754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs185031684	chr8:4284754-4284755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs147316724	chr8:4284755-4284756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs189016398	chr8:4284757-4284758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs148803230	chr8:4284774-4284775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112259699	chr8:4284776-4284777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs541963908	chr8:4284780-4284781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547578556	chr8:4284782-4284783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs560872732	chr8:4284783-4284784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs57396002	chr8:4284804-4284805	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545833744	chr8:4284805-4284806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs57771239	chr8:4284815-4284816	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531314927	chr8:4284816-4284817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184159791	chr8:4284830-4284831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373341521	chr8:4284839-4284840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs569789899	chr8:4284846-4284847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs570100404	chr8:4284864-4284865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs77654604	chr8:4284885-4284886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs376345914	chr8:4284890-4284891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537993438	chr8:4284897-4284898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs532570338	chr8:4284900-4284901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs188443299	chr8:4284926-4284927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs141390547	chr8:4284933-4284934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs150827457	chr8:4284940-4284941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs557814904	chr8:4284954-4284955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs139302671	chr8:4284961-4284962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537046595	chr8:4284973-4284974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114778827	chr8:4284987-4284988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112367601	chr8:4285011-4285012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534698753	chr8:4285013-4285014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35095024	chr8:4285021-4285022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3056569	chr8:4285022-4285023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78559610	chr8:4285032-4285033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554994815	chr8:4285034-4285035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541677367	chr8:4285037-4285038	Weak transcription	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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4284600-4285000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:4285000-4285400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:4290000-4291000	Enhancers	Fetal Muscle Leg	muscle
4	chr8:4291000-4291800	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:4292200-4292400	Enhancers	Fetal Muscle Leg	muscle
6	chr8:4293000-4293400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:4295200-4296000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:4295400-4296000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:4300000-4300400	Enhancers	Fetal Brain Male	brain
10	chr8:4300400-4301400	Weak transcription	Fetal Brain Male	brain
11	chr8:4301400-4301600	Enhancers	Fetal Brain Male	brain
12	chr8:4303200-4303600	Enhancers	Cortex derived primary cultured neurospheres	brain

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