Variant report

Variant	nsv512026
Chromosome Location	chr8:4941175-4944233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187017934	chr8:4941181-4941182	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs192832977	chr8:4941201-4941202	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184409671	chr8:4941217-4941218	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs35524159	chr8:4941226-4941227	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189341634	chr8:4941233-4941234	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372848989	chr8:4941235-4941236	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs575958599	chr8:4941236-4941237	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs543360272	chr8:4941237-4941238	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561916402	chr8:4941238-4941239	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs573978959	chr8:4941239-4941240	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs182223847	chr8:4941242-4941243	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542457452	chr8:4941295-4941296	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541265938	chr8:4941313-4941314	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs559569100	chr8:4941390-4941391	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs527808085	chr8:4941393-4941394	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs11781650	chr8:4941437-4941438	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113879976	chr8:4941489-4941490	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs202048580	chr8:4941520-4941521	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs564335060	chr8:4941527-4941528	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs531687168	chr8:4941545-4941546	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184859846	chr8:4941550-4941551	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs568456764	chr8:4941603-4941604	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs562360259	chr8:4941606-4941607	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs189235254	chr8:4941620-4941621	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs11786658	chr8:4941633-4941634	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374640027	chr8:4941655-4941656	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs539175328	chr8:4941659-4941660	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557792825	chr8:4941662-4941663	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs74592989	chr8:4941682-4941683	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs17063304	chr8:4941692-4941693	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1993284	chr8:4941703-4941704	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181592703	chr8:4941724-4941725	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs185910626	chr8:4941725-4941726	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs189631324	chr8:4941735-4941736	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs181163531	chr8:4941741-4941742	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186050340	chr8:4941753-4941754	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs77954722	chr8:4941764-4941765	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs545986662	chr8:4941772-4941773	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs564651414	chr8:4941774-4941775	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs371236729	chr8:4941790-4941791	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs148957539	chr8:4941796-4941797	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145400056	chr8:4941816-4941817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147620604	chr8:4941817-4941818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190956536	chr8:4941832-4941833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114316510	chr8:4941833-4941834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533521535	chr8:4941837-4941838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551678506	chr8:4941844-4941845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142133212	chr8:4941863-4941864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145925333	chr8:4941869-4941870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184056018	chr8:4941886-4941887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4939800-4941200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:4940400-4941200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:4940400-4941200	Active TSS	Brain Hippocampus Middle	brain
4	chr8:4940600-4941200	Active TSS	Brain Cingulate Gyrus	brain
5	chr8:4940800-4941800	Active TSS	Brain Substantia Nigra	brain
6	chr8:4940800-4942400	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:4941000-4943800	Weak transcription	Brain Angular Gyrus	brain
8	chr8:4941600-4941800	Enhancers	Brain Anterior Caudate	brain
9	chr8:4941800-4942000	Enhancers	Brain Substantia Nigra	brain
10	chr8:4942200-4942600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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