Variant report

Variant	nsv437037
Chromosome Location	chr8:4136657-4151910
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	chr1:103323089..103325462-chr8:4135925..4138695,2	MCF-7	breast:
2	chr8:4138578..4139163-chr8:4399169..4399679,2	MCF-7	breast:

Extended variants
information (count: 354 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:354 , 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	rs563071404	chr8:4139435-4139436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577541438	chr8:4139443-4139444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142474048	chr8:4139447-4139448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150910824	chr8:4139449-4139450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540180045	chr8:4139476-4139477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189570149	chr8:4139489-4139490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528792672	chr8:4139493-4139494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547183434	chr8:4139500-4139501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78493271	chr8:4139518-4139519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183962657	chr8:4139533-4139534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551076603	chr8:4139534-4139535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569291534	chr8:4139537-4139538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573508896	chr8:4139538-4139539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536644183	chr8:4139549-4139550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542369162	chr8:4139573-4139574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554667452	chr8:4139582-4139583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367747425	chr8:4139591-4139592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139835363	chr8:4139593-4139594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188863505	chr8:4139595-4139596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552720667	chr8:4139627-4139628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs779120	chr8:4139648-4139649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145356075	chr8:4139667-4139668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115822228	chr8:4139675-4139676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531679754	chr8:4139676-4139677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575248742	chr8:4139678-4139679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542570175	chr8:4139685-4139686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192919580	chr8:4139703-4139704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78721610	chr8:4139713-4139714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565163492	chr8:4139718-4139719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147680899	chr8:4139757-4139758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183819628	chr8:4139768-4139769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532741263	chr8:4139807-4139808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551240641	chr8:4139825-4139826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187505528	chr8:4139837-4139838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112522316	chr8:4139843-4139844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75103025	chr8:4139851-4139852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566773474	chr8:4139854-4139855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376097461	chr8:4139855-4139856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149716583	chr8:4139887-4139888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552832526	chr8:4139891-4139892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567910549	chr8:4139905-4139906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191890948	chr8:4139907-4139908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145582732	chr8:4139908-4139909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148896453	chr8:4139938-4139939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556888247	chr8:4139939-4139940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535013514	chr8:4139955-4139956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184035074	chr8:4139964-4139965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542382256	chr8:4139973-4139974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554679392	chr8:4139980-4139981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190556375	chr8:4145606-4145607	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Schizophrenia	21346763	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4139400-4140000	Enhancers	Fetal Brain Female	brain
2	chr8:4145600-4146000	Enhancers	Dnd41	blood
3	chr8:4146800-4148000	Enhancers	Fetal Brain Male	brain
4	chr8:4147400-4148200	Enhancers	Fetal Brain Female	brain
5	chr8:4148000-4149000	Weak transcription	Fetal Brain Male	brain
6	chr8:4149000-4149200	Enhancers	Fetal Brain Male	brain
7	chr8:4150600-4150800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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