Variant report

Variant	nsv178771
Chromosome Location	chr20:24492791-24498267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 240 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:240 , 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	rs143924659	chr20:24492801-24492802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560675610	chr20:24492849-24492850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6114750	chr20:24492856-24492857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528179546	chr20:24492881-24492882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6049748	chr20:24492887-24492888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186919799	chr20:24492917-24492918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6049749	chr20:24492931-24492932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78521189	chr20:24492935-24492936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563098743	chr20:24492955-24492956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34695983	chr20:24492985-24492986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531907134	chr20:24492986-24492987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548909242	chr20:24492990-24492991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568724213	chr20:24493003-24493004	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs74542009	chr20:24493096-24493097	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535464777	chr20:24493104-24493105	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556935347	chr20:24493109-24493110	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs533836284	chr20:24493123-24493124	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs116077132	chr20:24493132-24493133	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs570564217	chr20:24493155-24493156	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs377329739	chr20:24493156-24493157	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs190602642	chr20:24493161-24493162	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs569520889	chr20:24493175-24493176	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535224016	chr20:24493216-24493217	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs555286414	chr20:24493223-24493224	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs57311701	chr20:24493227-24493228	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs182846305	chr20:24493234-24493235	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs186989698	chr20:24493254-24493255	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553858876	chr20:24493318-24493319	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs577140197	chr20:24493331-24493332	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs191461337	chr20:24493416-24493417	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs562930593	chr20:24493429-24493430	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs373530409	chr20:24493430-24493431	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557971205	chr20:24493458-24493459	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs182433615	chr20:24493476-24493477	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189142866	chr20:24493479-24493480	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562410740	chr20:24493483-24493484	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs527964334	chr20:24493486-24493487	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547400057	chr20:24493506-24493507	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs6114752	chr20:24493511-24493512	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs13044694	chr20:24493525-24493526	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549467003	chr20:24493540-24493541	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs569407134	chr20:24493555-24493556	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs535304889	chr20:24493590-24493591	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs576050408	chr20:24493591-24493592	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs555125055	chr20:24493599-24493600	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs565992811	chr20:24493600-24493601	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs534633375	chr20:24493645-24493646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193125138	chr20:24493646-24493647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201383420	chr20:24493663-24493664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6083543	chr20:24493693-24493694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24471200-24493600	Weak transcription	Fetal Brain Female	brain
2	chr20:24475600-24495600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:24481600-24504200	Weak transcription	Fetal Brain Male	brain
4	chr20:24484000-24493000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr20:24488600-24498800	Weak transcription	Brain Hippocampus Middle	brain
6	chr20:24491400-24508600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr20:24492200-24493600	Enhancers	Fetal Thymus	thymus
8	chr20:24492600-24493000	Weak transcription	Primary T cells from cord blood	blood
9	chr20:24492800-24493000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr20:24493000-24493600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr20:24493000-24493600	Active TSS	Primary T cells from cord blood	blood
12	chr20:24493600-24494000	Enhancers	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links