Variant report

Variant	nsv527421
Chromosome Location	chr8:4508703-4514076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 427 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs899144	chr8:4508703-4508704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547727160	chr8:4508736-4508737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566373365	chr8:4508754-4508755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189695394	chr8:4508758-4508759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374370499	chr8:4508761-4508762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575703811	chr8:4508777-4508778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569748192	chr8:4508781-4508782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537175426	chr8:4508786-4508787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550489025	chr8:4508795-4508796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553082655	chr8:4508832-4508833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114329214	chr8:4508840-4508841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188981850	chr8:4508867-4508868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142006187	chr8:4508877-4508878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552950229	chr8:4508893-4508894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7465218	chr8:4508910-4508911	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191691758	chr8:4508926-4508927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7014518	chr8:4508929-4508930	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150682938	chr8:4508941-4508942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183768012	chr8:4508944-4508945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6997228	chr8:4508977-4508978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533665101	chr8:4508983-4508984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562214925	chr8:4508986-4508987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2617035	chr8:4508991-4508992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188249094	chr8:4508993-4508994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114812144	chr8:4508996-4508997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533697578	chr8:4509002-4509003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6997243	chr8:4509008-4509009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569634457	chr8:4509018-4509019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537063659	chr8:4509024-4509025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61017554	chr8:4509035-4509036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141040493	chr8:4509039-4509040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374919798	chr8:4509049-4509050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567360934	chr8:4509057-4509058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs978440	chr8:4509061-4509062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553179810	chr8:4509074-4509075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368069282	chr8:4509077-4509078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371878259	chr8:4509081-4509082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577492299	chr8:4509087-4509088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372280621	chr8:4509098-4509099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538581145	chr8:4509100-4509101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556860190	chr8:4509110-4509111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575370386	chr8:4509126-4509127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575984120	chr8:4509132-4509133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545436018	chr8:4509134-4509135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543808770	chr8:4509141-4509142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142973131	chr8:4509160-4509161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147465317	chr8:4509176-4509177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34454931	chr8:4509184-4509185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139962962	chr8:4509186-4509187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368527227	chr8:4509192-4509193	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
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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4503200-4508800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:4508800-4510000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:4509600-4510600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:4510000-4510600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:4510000-4510600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:4510200-4510800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:4510600-4514400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:4511400-4511600	Enhancers	Adipose Nuclei	Adipose
9	chr8:4511600-4512000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr8:4512000-4512200	Enhancers	Adipose Nuclei	Adipose

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