Variant report

Variant	esv3370631
Chromosome Location	chr20:24901752-24906050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569280693	chr20:24901790-24901791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538527120	chr20:24901794-24901795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531934302	chr20:24901799-24901800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114072062	chr20:24901808-24901809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372271748	chr20:24901858-24901859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183721059	chr20:24901862-24901863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554360187	chr20:24901905-24901906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189568498	chr20:24901922-24901923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181981137	chr20:24902021-24902022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562104519	chr20:24902043-24902044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143148046	chr20:24902054-24902055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71212789	chr20:24902084-24902085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2387364	chr20:24902085-24902086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527468383	chr20:24902104-24902105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2387365	chr20:24902119-24902120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs564330493	chr20:24902179-24902180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532607573	chr20:24902194-24902195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4594518	chr20:24902198-24902199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533586247	chr20:24902211-24902212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569268980	chr20:24902256-24902257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371296287	chr20:24902267-24902268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186315915	chr20:24902276-24902277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140202767	chr20:24902291-24902292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534528975	chr20:24902311-24902312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143896396	chr20:24902374-24902375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369012018	chr20:24902388-24902389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145948318	chr20:24902394-24902395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372882755	chr20:24902395-24902396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2094935	chr20:24902396-24902397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6083680	chr20:24902437-24902438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541497411	chr20:24902438-24902439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370802956	chr20:24902465-24902466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572221811	chr20:24902476-24902477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6036980	chr20:24902500-24902501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145522982	chr20:24902501-24902502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2094936	chr20:24902514-24902515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190264459	chr20:24902525-24902526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563004279	chr20:24902535-24902536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531857801	chr20:24902562-24902563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79026736	chr20:24902574-24902575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548260529	chr20:24902582-24902583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147611699	chr20:24902591-24902592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527938321	chr20:24902607-24902608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181491256	chr20:24902663-24902664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545157740	chr20:24902676-24902677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570709193	chr20:24902678-24902679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539675032	chr20:24902679-24902680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186763571	chr20:24902682-24902683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4429533	chr20:24902683-24902684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4432532	chr20:24902690-24902691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
Oral cancer	21386901	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24899200-24902000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr20:24899400-24902000	Enhancers	Ovary	ovary
3	chr20:24900400-24906400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr20:24901400-24915200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links