Variant report

Variant	nsv965832
Chromosome Location	chr20:15789045-15790454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147639275	chr20:15789090-15789091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1008583	chr20:15789122-15789123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551034374	chr20:15789123-15789124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577643264	chr20:15789177-15789178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111804607	chr20:15789203-15789204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536614533	chr20:15789246-15789247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368585309	chr20:15789255-15789256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182892292	chr20:15789271-15789272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368357432	chr20:15789296-15789297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6135545	chr20:15789362-15789363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150082262	chr20:15789405-15789406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577364705	chr20:15789434-15789435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187225962	chr20:15789438-15789439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6131722	chr20:15789466-15789467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs543175922	chr20:15789470-15789471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377270908	chr20:15789517-15789518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575144246	chr20:15789532-15789533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542185928	chr20:15789579-15789580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368188437	chr20:15789678-15789679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145532180	chr20:15789748-15789749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540135519	chr20:15789755-15789756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564769744	chr20:15789809-15789810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532322270	chr20:15789826-15789827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16996594	chr20:15789861-15789862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148855336	chr20:15790001-15790002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556973781	chr20:15790032-15790033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143484290	chr20:15790054-15790055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548562702	chr20:15790055-15790056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138966529	chr20:15790065-15790066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534544221	chr20:15790077-15790078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192733428	chr20:15790080-15790081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570990850	chr20:15790081-15790082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6079973	chr20:15790104-15790105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6079974	chr20:15790112-15790113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538398540	chr20:15790124-15790125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6135546	chr20:15790136-15790137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs575251484	chr20:15790153-15790154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6135547	chr20:15790159-15790160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs554192315	chr20:15790171-15790172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572486295	chr20:15790232-15790233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184758638	chr20:15790244-15790245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13043627	chr20:15790310-15790311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540172178	chr20:15790336-15790337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565156054	chr20:15790348-15790349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60109870	chr20:15790377-15790378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548322078	chr20:15790405-15790406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15786400-15790400	Enhancers	Primary B cells from peripheral blood	blood
2	chr20:15787200-15789200	Enhancers	Primary B cells from cord blood	blood
3	chr20:15789000-15790000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:15789800-15790200	Enhancers	Fetal Brain Male	brain
5	chr20:15790000-15790200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:15790200-15799000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:15790400-15792200	Weak transcription	Primary B cells from peripheral blood	blood

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