Variant report

Variant	esv3364647
Chromosome Location	chr20:21868602-21871100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 46 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557684932	chr20:21868621-21868622	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192784700	chr20:21868636-21868637	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185423505	chr20:21868645-21868646	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369151892	chr20:21868646-21868647	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6113407	chr20:21868648-21868649	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376364677	chr20:21868657-21868658	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541882726	chr20:21868663-21868664	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561930838	chr20:21868667-21868668	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527606049	chr20:21868690-21868691	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541174341	chr20:21868699-21868700	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189148724	chr20:21868711-21868712	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6082544	chr20:21868713-21868714	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550005696	chr20:21868722-21868723	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369636889	chr20:21868728-21868729	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373793494	chr20:21868739-21868740	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376441117	chr20:21868787-21868788	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570162364	chr20:21868789-21868790	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371152089	chr20:21868800-21868801	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372494399	chr20:21868818-21868819	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529232094	chr20:21868913-21868914	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147582558	chr20:21868923-21868924	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375761786	chr20:21868943-21868944	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6047699	chr20:21868945-21868946	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370653491	chr20:21868967-21868968	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548978999	chr20:21868991-21868992	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374034931	chr20:21868992-21868993	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534986231	chr20:21869008-21869009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551910192	chr20:21869016-21869017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369552140	chr20:21869029-21869030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71182316	chr20:21869035-21869036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6047700	chr20:21869048-21869049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368205306	chr20:21869062-21869063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370817146	chr20:21869126-21869127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375380074	chr20:21869143-21869144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368512668	chr20:21869156-21869157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372892795	chr20:21869163-21869164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555961989	chr20:21869188-21869189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376474851	chr20:21869224-21869225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559244306	chr20:21869281-21869282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367754074	chr20:21869289-21869290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371977166	chr20:21869333-21869334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375286521	chr20:21869365-21869366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535413697	chr20:21869398-21869399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555406253	chr20:21869405-21869406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572332425	chr20:21869409-21869410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540960487	chr20:21869456-21869457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9694226	chr20:21869516-21869517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs369623758	chr20:21869528-21869529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564454602	chr20:21869576-21869577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184577054	chr20:21869577-21869578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21868000-21868800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr20:21868000-21868800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr20:21868200-21868800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr20:21868400-21868800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr20:21868400-21869000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr20:21868600-21868800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:21868800-21869200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr20:21868800-21869600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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