Variant report

Variant	nsv518795
Chromosome Location	chr8:4377712-4415071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4138578..4139163-chr8:4399169..4399679,2	MCF-7	breast:
2	chr8:4091951..4092554-chr8:4399113..4400010,2	MCF-7	breast:
3	chr8:4091582..4092324-chr8:4399511..4400398,2	MCF-7	breast:

Extended variants
information (count: 743 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:743 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1113226	chr8:4377712-4377713	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546996323	chr8:4377714-4377715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571185342	chr8:4377722-4377723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538261597	chr8:4377732-4377733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186415977	chr8:4377740-4377741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145261278	chr8:4377773-4377774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190862196	chr8:4377810-4377811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554782570	chr8:4377822-4377823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573096578	chr8:4377823-4377824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183059270	chr8:4377831-4377832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78578102	chr8:4377862-4377863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535956036	chr8:4377894-4377895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150588678	chr8:4377895-4377896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1113227	chr8:4377899-4377900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545069233	chr8:4377929-4377930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368460134	chr8:4377940-4377941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563381477	chr8:4377985-4377986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575316166	chr8:4377996-4377997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532455036	chr8:4378046-4378047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35647287	chr8:4378068-4378069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73660891	chr8:4378071-4378072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191463661	chr8:4378075-4378076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569315034	chr8:4378115-4378116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565438685	chr8:4378135-4378136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182830846	chr8:4378169-4378170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550580608	chr8:4378177-4378178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73660892	chr8:4378210-4378211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9650516	chr8:4378215-4378216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548322141	chr8:4378221-4378222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10090075	chr8:4378223-4378224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187957026	chr8:4378238-4378239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145434969	chr8:4378240-4378241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140244667	chr8:4378263-4378264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191559238	chr8:4378285-4378286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73660893	chr8:4378315-4378316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575255457	chr8:4378330-4378331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542674392	chr8:4378333-4378334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116679580	chr8:4378335-4378336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10102969	chr8:4378350-4378351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs59784819	chr8:4378360-4378361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534193795	chr8:4378361-4378362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553969811	chr8:4378374-4378375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573851142	chr8:4378388-4378389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544943569	chr8:4378417-4378418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183747527	chr8:4378479-4378480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529723780	chr8:4378489-4378490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375897917	chr8:4378507-4378508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564497655	chr8:4378549-4378550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566439854	chr8:4378559-4378560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146464236	chr8:4378563-4378564	Weak transcription	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4375600-4384400	Weak transcription	Fetal Heart	heart
2	chr8:4377400-4378000	Enhancers	Fetal Brain Male	brain
3	chr8:4384400-4386200	Enhancers	Fetal Heart	heart
4	chr8:4395200-4395400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:4401200-4401600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:4410400-4411000	Enhancers	Brain Germinal Matrix	brain
7	chr8:4411200-4411600	Enhancers	Fetal Heart	heart
8	chr8:4415000-4416200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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