Variant report

Variant	esv3360932
Chromosome Location	chr20:23839652-23841650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199562065	chr20:23839682-23839683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369537639	chr20:23839701-23839702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537944891	chr20:23839737-23839738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560194448	chr20:23839744-23839745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6049184	chr20:23839745-23839746	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545822334	chr20:23839791-23839792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111879825	chr20:23839802-23839803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6049185	chr20:23839815-23839816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532071996	chr20:23839833-23839834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548883063	chr20:23839834-23839835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6138144	chr20:23839849-23839850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6138145	chr20:23839851-23839852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547629525	chr20:23839864-23839865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554473334	chr20:23839882-23839883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116434857	chr20:23839925-23839926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6106740	chr20:23839929-23839930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569695483	chr20:23839935-23839936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537784242	chr20:23839936-23839937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184337391	chr20:23839944-23839945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574596496	chr20:23839968-23839969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543194146	chr20:23839978-23839979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146914622	chr20:23839989-23839990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60946758	chr20:23839993-23839994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6114343	chr20:23839994-23839995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372474194	chr20:23840055-23840056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545892970	chr20:23840150-23840151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562501997	chr20:23840154-23840155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550057786	chr20:23840196-23840197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6114344	chr20:23840201-23840202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6114345	chr20:23840209-23840210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386813437	chr20:23840240-23840241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6132677	chr20:23840242-23840243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189811975	chr20:23840315-23840316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548011017	chr20:23840320-23840321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181020287	chr20:23840347-23840348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71183363	chr20:23840352-23840353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398121266	chr20:23840362-23840363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112923570	chr20:23840385-23840386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151321894	chr20:23840388-23840389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563003378	chr20:23840407-23840408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190481303	chr20:23840419-23840420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6106741	chr20:23840421-23840422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371425220	chr20:23840433-23840434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200485576	chr20:23840434-23840435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200247475	chr20:23840435-23840436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35647036	chr20:23840445-23840446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201056154	chr20:23840447-23840448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371123873	chr20:23840475-23840476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537716016	chr20:23840476-23840477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556062249	chr20:23840477-23840478	Weak transcription	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
Prostate cancer	18632612	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
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23833000-23846800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23838400-23840000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:23839000-23842200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr20:23839000-23844200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:23839200-23841000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr20:23839200-23847000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr20:23839400-23840800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr20:23839400-23840800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr20:23839400-23847000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr20:23840000-23841000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:23840800-23841200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr20:23840800-23841400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr20:23841000-23841200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr20:23841000-23841200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr20:23841200-23842200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr20:23841200-23847600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr20:23841400-23847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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