Variant report

Variant	nsv524294
Chromosome Location	chr20:15246472-15248832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs992580	chr20:15246472-15246473	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536136268	chr20:15246487-15246488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554986890	chr20:15246497-15246498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111389667	chr20:15246604-15246605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569059491	chr20:15246626-15246627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540571954	chr20:15246686-15246687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6131655	chr20:15246701-15246702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548537474	chr20:15246716-15246717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369049425	chr20:15246741-15246742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189827868	chr20:15246783-15246784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140258500	chr20:15246869-15246870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563053448	chr20:15246896-15246897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs387336	chr20:15246984-15246985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs180828065	chr20:15247008-15247009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560799240	chr20:15247039-15247040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528078997	chr20:15247142-15247143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376556012	chr20:15247161-15247162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546547323	chr20:15247261-15247262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145190084	chr20:15247282-15247283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534252149	chr20:15247306-15247307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368307725	chr20:15247317-15247318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554191449	chr20:15247341-15247342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35762906	chr20:15247374-15247375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146457607	chr20:15247380-15247381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187384187	chr20:15247423-15247424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369352259	chr20:15247439-15247440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568700435	chr20:15247509-15247510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562696569	chr20:15247516-15247517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192329681	chr20:15247558-15247559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569970310	chr20:15247575-15247576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548189289	chr20:15247576-15247577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12481253	chr20:15247590-15247591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183646861	chr20:15247606-15247607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373646806	chr20:15247614-15247615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140870723	chr20:15247698-15247699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577444241	chr20:15247700-15247701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150462594	chr20:15247728-15247729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188742013	chr20:15247732-15247733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575096762	chr20:15247736-15247737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7354023	chr20:15247745-15247746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542363429	chr20:15247765-15247766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7354024	chr20:15247768-15247769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75607688	chr20:15247789-15247790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191437591	chr20:15247836-15247837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539875570	chr20:15247846-15247847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564534830	chr20:15247880-15247881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182791735	chr20:15247911-15247912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149610859	chr20:15247942-15247943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577324626	chr20:15247947-15247948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562195231	chr20:15248007-15248008	Enhancers	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15245200-15246600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:15245800-15246600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:15245800-15246800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:15246200-15247000	Weak transcription	Fetal Intestine Large	intestine
5	chr20:15246400-15249600	Enhancers	GM12878-XiMat	blood
6	chr20:15247000-15247200	Enhancers	Fetal Intestine Large	intestine
7	chr20:15248600-15250000	Enhancers	Primary B cells from peripheral blood	blood

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