Variant report

Variant	nsv524714
Chromosome Location	chr20:15363130-15368919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 215 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2876404	chr20:15363130-15363131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552624191	chr20:15363174-15363175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60632343	chr20:15363197-15363198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145321531	chr20:15363255-15363256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531524700	chr20:15363277-15363278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548415012	chr20:15363283-15363284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530607435	chr20:15363332-15363333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184836946	chr20:15363356-15363357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11477962	chr20:15363357-15363358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150997594	chr20:15363362-15363363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548092489	chr20:15363409-15363410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116533384	chr20:15363418-15363419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59997671	chr20:15363450-15363451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190429214	chr20:15363466-15363467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539274415	chr20:15363486-15363487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6074885	chr20:15363504-15363505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575934341	chr20:15363525-15363526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6043244	chr20:15363554-15363555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs6043245	chr20:15363560-15363561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6135402	chr20:15363603-15363604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541137010	chr20:15363630-15363631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368761713	chr20:15363647-15363648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372127698	chr20:15363652-15363653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559342499	chr20:15363682-15363683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539092369	chr20:15363688-15363689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532785735	chr20:15363691-15363692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545027703	chr20:15363695-15363696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78663263	chr20:15363696-15363697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530864504	chr20:15363707-15363708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192888853	chr20:15363708-15363709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567142867	chr20:15363713-15363714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528528194	chr20:15363716-15363717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76601041	chr20:15363745-15363746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571760411	chr20:15363762-15363763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538648533	chr20:15363770-15363771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554865762	chr20:15363807-15363808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6131669	chr20:15363824-15363825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557361810	chr20:15363851-15363852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569419766	chr20:15363882-15363883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4344978	chr20:15363889-15363890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114486787	chr20:15363905-15363906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140718346	chr20:15363909-15363910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577550661	chr20:15363945-15363946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540942988	chr20:15363961-15363962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560800848	chr20:15364009-15364010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540873350	chr20:15364028-15364029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149657603	chr20:15364049-15364050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145524899	chr20:15364056-15364057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111243450	chr20:15364091-15364092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568169311	chr20:15364106-15364107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15354000-15376400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:15367200-15368200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr20:15367400-15368000	Enhancers	Cortex derived primary cultured neurospheres	brain

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