Variant report

Variant	nsv981859
Chromosome Location	chr8:5811960-5819941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 351 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:351 , 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	rs375931208	chr8:5815207-5815208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569951750	chr8:5815227-5815228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574323379	chr8:5815242-5815243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2816400	chr8:5815335-5815336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573721904	chr8:5815355-5815356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534718355	chr8:5815357-5815358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552788454	chr8:5815397-5815398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556431149	chr8:5815409-5815410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544588090	chr8:5815441-5815442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184045385	chr8:5815443-5815444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2816401	chr8:5815474-5815475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187973107	chr8:5815475-5815476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370059358	chr8:5815477-5815478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2816402	chr8:5815485-5815486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191232052	chr8:5815486-5815487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529421693	chr8:5815487-5815488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547919135	chr8:5815494-5815495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565317632	chr8:5815503-5815504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183820944	chr8:5815504-5815505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187116933	chr8:5815505-5815506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533403135	chr8:5815521-5815522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551779559	chr8:5815528-5815529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570038404	chr8:5815542-5815543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79606060	chr8:5815550-5815551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548967605	chr8:5815552-5815553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111510260	chr8:5815604-5815605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7830786	chr8:5815622-5815623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534507988	chr8:5815624-5815625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4875658	chr8:5815649-5815650	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577295786	chr8:5815673-5815674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185194296	chr8:5815688-5815689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4875659	chr8:5815704-5815705	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2816403	chr8:5815774-5815775	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544096528	chr8:5815776-5815777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190120759	chr8:5815794-5815795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193168970	chr8:5815805-5815806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574217463	chr8:5815822-5815823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372717192	chr8:5815824-5815825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536440359	chr8:5815883-5815884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550400385	chr8:5815884-5815885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541252262	chr8:5815891-5815892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559915692	chr8:5815904-5815905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567025552	chr8:5815919-5815920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148185171	chr8:5815928-5815929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563682607	chr8:5815948-5815949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533675831	chr8:5815965-5815966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530806521	chr8:5815968-5815969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549298730	chr8:5815969-5815970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141217022	chr8:5816029-5816030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548770357	chr8:5816033-5816034	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5815200-5816000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:5815400-5816000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:5815600-5815800	Weak transcription	Fetal Heart	heart
4	chr8:5815800-5816000	Enhancers	Fetal Heart	heart
5	chr8:5816000-5818600	Weak transcription	Fetal Heart	heart
6	chr8:5816000-5819200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:5816000-5819400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:5818600-5820600	Enhancers	Fetal Heart	heart
9	chr8:5819200-5820600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:5819400-5820600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:5819600-5820800	Enhancers	Fetal Brain Male	brain
12	chr8:5819800-5820200	Enhancers	Fetal Lung	lung
13	chr8:5819800-5820800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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