Variant report

Variant	nsv1020592
Chromosome Location	chr8:4381318-4414645
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 515 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553365836	chr8:4381354-4381355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147047316	chr8:4381355-4381356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188957906	chr8:4381379-4381380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138303808	chr8:4381381-4381382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141866917	chr8:4381428-4381429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547283234	chr8:4381429-4381430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4875108	chr8:4381436-4381437	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs192976653	chr8:4381454-4381455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59214655	chr8:4381455-4381456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150224305	chr8:4381458-4381459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571286792	chr8:4381469-4381470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532213772	chr8:4381481-4381482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138566858	chr8:4381484-4381485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531856683	chr8:4381497-4381498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149306586	chr8:4381525-4381526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551539568	chr8:4381548-4381549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144589552	chr8:4381549-4381550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554789829	chr8:4381569-4381570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185258313	chr8:4381573-4381574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534120804	chr8:4381577-4381578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188736830	chr8:4381594-4381595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553064392	chr8:4381634-4381635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551969166	chr8:4381665-4381666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545057058	chr8:4381667-4381668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557035864	chr8:4381671-4381672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527672649	chr8:4381683-4381684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575378454	chr8:4381691-4381692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367553843	chr8:4381698-4381699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191499954	chr8:4381735-4381736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374373630	chr8:4381775-4381776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57258882	chr8:4381786-4381787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11775130	chr8:4381799-4381800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62479745	chr8:4381803-4381804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1526340	chr8:4381869-4381870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540939534	chr8:4381918-4381919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183652679	chr8:4381924-4381925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532149110	chr8:4381935-4381936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550642427	chr8:4381938-4381939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562562816	chr8:4381939-4381940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529833141	chr8:4381947-4381948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188019236	chr8:4381948-4381949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566679998	chr8:4381954-4381955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567600850	chr8:4381959-4381960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533812341	chr8:4381970-4381971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552061981	chr8:4381973-4381974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368551226	chr8:4381979-4381980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181952560	chr8:4381991-4381992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187324999	chr8:4381998-4381999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139457375	chr8:4381999-4382000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190597534	chr8:4382000-4382001	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:6 , 50 per page) page: 1

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

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