Variant report

Variant	nsv1023488
Chromosome Location	chr8:4111854-4151910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:4138578..4139163-chr8:4399169..4399679,2	MCF-7	breast:
2	chr1:103323089..103325462-chr8:4135925..4138695,2	MCF-7	breast:

Extended variants
information (count: 831 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:831 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563448517	chr8:4119812-4119813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575554998	chr8:4119822-4119823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184247835	chr8:4119830-4119831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560827673	chr8:4119859-4119860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6986522	chr8:4119868-4119869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546299443	chr8:4119877-4119878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565203403	chr8:4119881-4119882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145632641	chr8:4119887-4119888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138250642	chr8:4119893-4119894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569100226	chr8:4119897-4119898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570665107	chr8:4119906-4119907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536456647	chr8:4119938-4119939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113365892	chr8:4119968-4119969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547220750	chr8:4119970-4119971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560839074	chr8:4119977-4119978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566876869	chr8:4119984-4119985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188492619	chr8:4119989-4119990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142834824	chr8:4119994-4119995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577335130	chr8:4119997-4119998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537911886	chr8:4120015-4120016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146082622	chr8:4120029-4120030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557331006	chr8:4120047-4120048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs779105	chr8:4120070-4120071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148747268	chr8:4120075-4120076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141234114	chr8:4120091-4120092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572868008	chr8:4120107-4120108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540351002	chr8:4120122-4120123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564536912	chr8:4120128-4120129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1394485	chr8:4120154-4120155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs180909129	chr8:4120158-4120159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569251483	chr8:4120162-4120163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562847973	chr8:4120169-4120170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530288415	chr8:4120174-4120175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150784780	chr8:4120195-4120196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542221480	chr8:4128008-4128009	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560330041	chr8:4128012-4128013	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528378217	chr8:4128030-4128031	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546589398	chr8:4128039-4128040	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571374486	chr8:4128064-4128065	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371518415	chr8:4128083-4128084	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548119552	chr8:4128109-4128110	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190464289	chr8:4128129-4128130	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs710256	chr8:4128143-4128144	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs138541904	chr8:4128146-4128147	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141556920	chr8:4128150-4128151	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568383596	chr8:4128160-4128161	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554548412	chr8:4128166-4128167	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369174154	chr8:4128170-4128171	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181841740	chr8:4128176-4128177	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146203183	chr8:4128183-4128184	Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

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
Pancreatic ductal adenocarcinoma	19077451	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
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4119800-4120200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:4119800-4120200	Enhancers	Dnd41	blood
3	chr8:4128000-4128400	Active TSS	Duodenum Mucosa	Duodenum
4	chr8:4128000-4128400	Enhancers	Fetal Intestine Small	intestine
5	chr8:4128000-4128400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:4128000-4132600	Bivalent Enhancer	Fetal Heart	heart
7	chr8:4139400-4140000	Enhancers	Fetal Brain Female	brain
8	chr8:4145600-4146000	Enhancers	Dnd41	blood
9	chr8:4146800-4148000	Enhancers	Fetal Brain Male	brain
10	chr8:4147400-4148200	Enhancers	Fetal Brain Female	brain
11	chr8:4148000-4149000	Weak transcription	Fetal Brain Male	brain
12	chr8:4149000-4149200	Enhancers	Fetal Brain Male	brain
13	chr8:4150600-4150800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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