Variant report

Variant	nsv609844
Chromosome Location	chr8:4168217-4173887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 358 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551109264	chr8:4170403-4170404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569244475	chr8:4170416-4170417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181287484	chr8:4170420-4170421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34888753	chr8:4170421-4170422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11786662	chr8:4170427-4170428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185303913	chr8:4170433-4170434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73504653	chr8:4170446-4170447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553159560	chr8:4170449-4170450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577301737	chr8:4170462-4170463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368982402	chr8:4170477-4170478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190063023	chr8:4170492-4170493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10095064	chr8:4170497-4170498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10095071	chr8:4170506-4170507	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542648288	chr8:4170507-4170508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10110255	chr8:4170517-4170518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577356219	chr8:4170526-4170527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79732691	chr8:4170527-4170528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13273923	chr8:4170565-4170566	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140723902	chr8:4170575-4170576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17069871	chr8:4170584-4170585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551045906	chr8:4170591-4170592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376755706	chr8:4170595-4170596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569380978	chr8:4170612-4170613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181020927	chr8:4170667-4170668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149681813	chr8:4170671-4170672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145513649	chr8:4170674-4170675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184998374	chr8:4170680-4170681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534951862	chr8:4170683-4170684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553007090	chr8:4170693-4170694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367811547	chr8:4170698-4170699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142532838	chr8:4170715-4170716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544171571	chr8:4170737-4170738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538457374	chr8:4170745-4170746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561237082	chr8:4170749-4170750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556629195	chr8:4170761-4170762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374532123	chr8:4170762-4170763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575042170	chr8:4170768-4170769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192073845	chr8:4170780-4170781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10088254	chr8:4170786-4170787	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs370399972	chr8:4170788-4170789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540892218	chr8:4170802-4170803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565578794	chr8:4170807-4170808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10088341	chr8:4170818-4170819	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544856983	chr8:4170834-4170835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562967565	chr8:4170847-4170848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530240477	chr8:4170863-4170864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548273662	chr8:4170865-4170866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560501786	chr8:4170867-4170868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140708990	chr8:4170875-4170876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs33962521	chr8:4170876-4170877	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Schizophrenia	21346763	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4170400-4171200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:4170600-4171000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:4170800-4171000	Enhancers	Pancreas	Pancrea
4	chr8:4171000-4172400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:4171000-4188800	Weak transcription	Pancreas	Pancrea
6	chr8:4172400-4172600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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