Variant report

Variant	nsv397510
Chromosome Location	chr8:5886693-5888120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538594369	chr8:5886710-5886711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558508840	chr8:5886747-5886748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs60292085	chr8:5886759-5886760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544062848	chr8:5886811-5886812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535704096	chr8:5886840-5886841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536651550	chr8:5886858-5886859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555994193	chr8:5886866-5886867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187276145	chr8:5886916-5886917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192121814	chr8:5886922-5886923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559765054	chr8:5886955-5886956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371851248	chr8:5887001-5887002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556466811	chr8:5887009-5887010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545365456	chr8:5887023-5887024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17075817	chr8:5887024-5887025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530704041	chr8:5887029-5887030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141337294	chr8:5887030-5887031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115153187	chr8:5887093-5887094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182799952	chr8:5887128-5887129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545119089	chr8:5887133-5887134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565286840	chr8:5887186-5887187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187452149	chr8:5887200-5887201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12335033	chr8:5887201-5887202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150806892	chr8:5887237-5887238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189848186	chr8:5887241-5887242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182566293	chr8:5887247-5887248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13252830	chr8:5887260-5887261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556055456	chr8:5887303-5887304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574169040	chr8:5887350-5887351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541588727	chr8:5887364-5887365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553221955	chr8:5887367-5887368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114629155	chr8:5887376-5887377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139135360	chr8:5887396-5887397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377245592	chr8:5887415-5887416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187226404	chr8:5887429-5887430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542520271	chr8:5887443-5887444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369327454	chr8:5887466-5887467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528295372	chr8:5887478-5887479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561342085	chr8:5887498-5887499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73506485	chr8:5887507-5887508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs571289530	chr8:5887520-5887521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149936738	chr8:5887532-5887533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146443006	chr8:5887549-5887550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568880215	chr8:5887550-5887551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372973250	chr8:5887558-5887559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536221736	chr8:5887640-5887641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560145542	chr8:5887644-5887645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549721389	chr8:5887664-5887665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139869412	chr8:5887672-5887673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534942678	chr8:5887694-5887695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553525284	chr8:5887701-5887702	Weak transcription	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
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
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
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	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
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5885600-5887200	Enhancers	Fetal Brain Male	brain
2	chr8:5887200-5890600	Weak transcription	Fetal Brain Male	brain

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