Variant report

Variant	nsv465392
Chromosome Location	chr8:4564077-4574531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 373 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:373 , 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	rs2617058	chr8:4564077-4564078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574717543	chr8:4564085-4564086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542141155	chr8:4564099-4564100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184214423	chr8:4564101-4564102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571946386	chr8:4564123-4564124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531787862	chr8:4564128-4564129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370930924	chr8:4564131-4564132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545740595	chr8:4564145-4564146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563937957	chr8:4564150-4564151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531400710	chr8:4564153-4564154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77598441	chr8:4564156-4564157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562935674	chr8:4564179-4564180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17071069	chr8:4564193-4564194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545470987	chr8:4564194-4564195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529136546	chr8:4564202-4564203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142932506	chr8:4564212-4564213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559594432	chr8:4564216-4564217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187042538	chr8:4564219-4564220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539361807	chr8:4564243-4564244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146133634	chr8:4564251-4564252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570531021	chr8:4564254-4564255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559422083	chr8:4564264-4564265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537923954	chr8:4564278-4564279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386721364	chr8:4564303-4564304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574680768	chr8:4564304-4564305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548773057	chr8:4564305-4564306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191488487	chr8:4564307-4564308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562196035	chr8:4564350-4564351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554077209	chr8:4564354-4564355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140176228	chr8:4564355-4564356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369994296	chr8:4564381-4564382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142293973	chr8:4564397-4564398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564043688	chr8:4564438-4564439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576136146	chr8:4564446-4564447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78049038	chr8:4564454-4564455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs748274	chr8:4564461-4564462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561812541	chr8:4564473-4564474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184667899	chr8:4564484-4564485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547528909	chr8:4564521-4564522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372586160	chr8:4564540-4564541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533224202	chr8:4564549-4564550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17418446	chr8:4564582-4564583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs570494897	chr8:4564586-4564587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189134918	chr8:4564602-4564603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193287812	chr8:4564629-4564630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568171176	chr8:4564655-4564656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76162365	chr8:4564667-4564668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554311261	chr8:4564701-4564702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115067424	chr8:4564704-4564705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540104401	chr8:4564717-4564718	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4563200-4564200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:4564200-4565000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:4570600-4586800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:4573000-4573200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:4573000-4573600	Enhancers	Fetal Heart	heart
6	chr8:4573200-4573600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:4573200-4573600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:4573200-4573600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:4573200-4574000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:4573200-4574000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:4573200-4574000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:4573200-4574000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:4573200-4574200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:4573400-4573800	Enhancers	Brain Cingulate Gyrus	brain
15	chr8:4573400-4574000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:4573400-4574000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:4573400-4574000	Enhancers	Brain Substantia Nigra	brain
18	chr8:4573400-4574000	Enhancers	Fetal Lung	lung
19	chr8:4573400-4574200	Enhancers	Brain Hippocampus Middle	brain
20	chr8:4573600-4573800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:4573600-4574000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:4573600-4574200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:4573600-4574200	Enhancers	Brain Inferior Temporal Lobe	brain

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