Variant report

Variant	nsv398214
Chromosome Location	chr8:4307858-4314507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 482 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535712818	chr8:4309205-4309206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75289745	chr8:4309209-4309210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191557730	chr8:4309229-4309230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558239814	chr8:4309235-4309236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564396710	chr8:4309242-4309243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116888172	chr8:4309244-4309245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543792303	chr8:4309268-4309269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562689016	chr8:4309273-4309274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145366842	chr8:4309282-4309283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149213607	chr8:4309307-4309308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373366341	chr8:4309317-4309318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13278962	chr8:4309321-4309322	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559931388	chr8:4309322-4309323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370174058	chr8:4309331-4309332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117803043	chr8:4309361-4309362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563108844	chr8:4309364-4309365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80094404	chr8:4309433-4309434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531247004	chr8:4309446-4309447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78834227	chr8:4309447-4309448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77300968	chr8:4309448-4309449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577742829	chr8:4309460-4309461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116377055	chr8:4309468-4309469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116924766	chr8:4309471-4309472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115510134	chr8:4309478-4309479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540001559	chr8:4309502-4309503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116786691	chr8:4309507-4309508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60357188	chr8:4309528-4309529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537080684	chr8:4309535-4309536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181371518	chr8:4309553-4309554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573918300	chr8:4309563-4309564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185293528	chr8:4309564-4309565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559968171	chr8:4309566-4309567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189810959	chr8:4309568-4309569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530843562	chr8:4309571-4309572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545582580	chr8:4309575-4309576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564071109	chr8:4309577-4309578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370046922	chr8:4309585-4309586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573189026	chr8:4309593-4309594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146883854	chr8:4309596-4309597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78914831	chr8:4309613-4309614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373926445	chr8:4309618-4309619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541850904	chr8:4309623-4309624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541368164	chr8:4309626-4309627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548122870	chr8:4309627-4309628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114748507	chr8:4309639-4309640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540087998	chr8:4309650-4309651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145642873	chr8:4309674-4309675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138308221	chr8:4309676-4309677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386721325	chr8:4309702-4309703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370444107	chr8:4309710-4309711	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4309200-4310400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:4310400-4312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:4310800-4311200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:4312400-4313000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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