Variant report

Variant	nsv889969
Chromosome Location	chr8:4647134-4658410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558217023	chr8:4653220-4653221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6987623	chr8:4653225-4653226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190028231	chr8:4653232-4653233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182408398	chr8:4653257-4653258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149330956	chr8:4653260-4653261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568189130	chr8:4653267-4653268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541045175	chr8:4653277-4653278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552720913	chr8:4653283-4653284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186727994	chr8:4653286-4653287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191096859	chr8:4653291-4653292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563390406	chr8:4653297-4653298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184090528	chr8:4653316-4653317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530621255	chr8:4653327-4653328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542373184	chr8:4653340-4653341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188726390	chr8:4653368-4653369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569826726	chr8:4653374-4653375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193198814	chr8:4653413-4653414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144585474	chr8:4653440-4653441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6995744	chr8:4653473-4653474	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533353414	chr8:4653509-4653510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551629712	chr8:4653517-4653518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570089324	chr8:4653531-4653532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76056291	chr8:4653534-4653535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185074849	chr8:4653540-4653541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188394585	chr8:4653556-4653557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34144685	chr8:4653582-4653583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535372132	chr8:4653590-4653591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148406234	chr8:4653617-4653618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191841658	chr8:4653620-4653621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375865208	chr8:4653625-4653626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556789983	chr8:4653628-4653629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77121850	chr8:4653671-4653672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542434658	chr8:4653678-4653679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560775078	chr8:4653687-4653688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572686924	chr8:4653693-4653694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188308662	chr8:4653697-4653698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73661134	chr8:4653710-4653711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533178908	chr8:4653720-4653721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113282095	chr8:4653755-4653756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551713593	chr8:4653791-4653792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142307319	chr8:4653793-4653794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116828766	chr8:4653812-4653813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534566423	chr8:4653816-4653817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554624768	chr8:4653821-4653822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180710688	chr8:4653827-4653828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145939657	chr8:4653842-4653843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139889295	chr8:4653843-4653844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114882054	chr8:4653847-4653848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185848905	chr8:4653850-4653851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556887225	chr8:4653851-4653852	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4653200-4654000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr8:4653200-4654400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:4653800-4654200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:4654200-4654600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:4658400-4670600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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