Variant report

Variant	esv3454232
Chromosome Location	chr20:24388588-24389683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34457122	chr20:24388616-24388617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530202409	chr20:24388627-24388628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375491206	chr20:24388662-24388663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547290287	chr20:24388666-24388667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560658567	chr20:24388668-24388669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117230888	chr20:24388672-24388673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552250617	chr20:24388673-24388674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113229508	chr20:24388712-24388713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35920900	chr20:24388713-24388714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371821704	chr20:24388720-24388721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35184720	chr20:24388722-24388723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs35597215	chr20:24388747-24388748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6138288	chr20:24388759-24388760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111824653	chr20:24388768-24388769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112381200	chr20:24388772-24388773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56329410	chr20:24388787-24388788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13038847	chr20:24388805-24388806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111895798	chr20:24388814-24388815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112966543	chr20:24388818-24388819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548261905	chr20:24388834-24388835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369143943	chr20:24388836-24388837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112140904	chr20:24388842-24388843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111441906	chr20:24388848-24388849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79997729	chr20:24388851-24388852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28379832	chr20:24388860-24388861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62193454	chr20:24388864-24388865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111440033	chr20:24388877-24388878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13038735	chr20:24388885-24388886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13040058	chr20:24388897-24388898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13040193	chr20:24388906-24388907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533780994	chr20:24388930-24388931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7363469	chr20:24388940-24388941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113978143	chr20:24388943-24388944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562389757	chr20:24388952-24388953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553448902	chr20:24388986-24388987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377516843	chr20:24388989-24388990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539708522	chr20:24388996-24388997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537187166	chr20:24388998-24388999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112026091	chr20:24389032-24389033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74173641	chr20:24389035-24389036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62193456	chr20:24389044-24389045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112069333	chr20:24389078-24389079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111419036	chr20:24389090-24389091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199976163	chr20:24389094-24389095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112913689	chr20:24389107-24389108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113940710	chr20:24389115-24389116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13042988	chr20:24389126-24389127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558514791	chr20:24389127-24389128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112374653	chr20:24389161-24389162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74173642	chr20:24389274-24389275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24384000-24390200	Weak transcription	Fetal Brain Female	brain
2	chr20:24386400-24388600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:24386400-24388600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr20:24387600-24388600	Enhancers	Primary T cells from cord blood	blood
5	chr20:24387600-24388600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr20:24387600-24388800	Enhancers	Lung	lung
7	chr20:24387800-24392400	Weak transcription	Fetal Thymus	thymus
8	chr20:24388000-24388600	Enhancers	Brain Angular Gyrus	brain
9	chr20:24388200-24388600	Enhancers	Aorta	Aorta
10	chr20:24388200-24390000	Weak transcription	Dnd41	blood
11	chr20:24388400-24389600	Weak transcription	Fetal Kidney	kidney
12	chr20:24388400-24390400	Weak transcription	Brain Substantia Nigra	brain
13	chr20:24388600-24389800	Weak transcription	Primary T cells from cord blood	blood
14	chr20:24388600-24391800	Weak transcription	Aorta	Aorta

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