Variant report

Variant	esv3521655
Chromosome Location	chr20:24388002-24390600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142474515	chr20:24388107-24388108	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554845765	chr20:24388109-24388110	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574644681	chr20:24388140-24388141	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533295407	chr20:24388162-24388163	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534097529	chr20:24388180-24388181	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146537219	chr20:24388229-24388230	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201006067	chr20:24388237-24388238	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34407669	chr20:24388238-24388239	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397800774	chr20:24388241-24388242	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553748728	chr20:24388290-24388291	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs8124247	chr20:24388301-24388302	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116963752	chr20:24388322-24388323	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564932468	chr20:24388339-24388340	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371826960	chr20:24388383-24388384	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575372304	chr20:24388384-24388385	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184096082	chr20:24388400-24388401	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs36005850	chr20:24388409-24388410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147930484	chr20:24388546-24388547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34457122	chr20:24388616-24388617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530202409	chr20:24388627-24388628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375491206	chr20:24388662-24388663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547290287	chr20:24388666-24388667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560658567	chr20:24388668-24388669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117230888	chr20:24388672-24388673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552250617	chr20:24388673-24388674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113229508	chr20:24388712-24388713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35920900	chr20:24388713-24388714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371821704	chr20:24388720-24388721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35184720	chr20:24388722-24388723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs35597215	chr20:24388747-24388748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6138288	chr20:24388759-24388760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111824653	chr20:24388768-24388769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112381200	chr20:24388772-24388773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56329410	chr20:24388787-24388788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13038847	chr20:24388805-24388806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111895798	chr20:24388814-24388815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112966543	chr20:24388818-24388819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548261905	chr20:24388834-24388835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369143943	chr20:24388836-24388837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112140904	chr20:24388842-24388843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111441906	chr20:24388848-24388849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79997729	chr20:24388851-24388852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28379832	chr20:24388860-24388861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62193454	chr20:24388864-24388865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111440033	chr20:24388877-24388878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13038735	chr20:24388885-24388886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13040058	chr20:24388897-24388898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13040193	chr20:24388906-24388907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533780994	chr20:24388930-24388931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7363469	chr20:24388940-24388941	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24384000-24390200	Weak transcription	Fetal Brain Female	brain
2	chr20:24386400-24388400	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr20:24386400-24388600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:24386400-24388600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr20:24386600-24388200	Enhancers	Dnd41	blood
6	chr20:24386600-24388400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr20:24386600-24388400	Enhancers	HMEC	breast
8	chr20:24386800-24388400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr20:24387200-24388200	Enhancers	Brain Hippocampus Middle	brain
10	chr20:24387400-24388400	Enhancers	Brain Substantia Nigra	brain
11	chr20:24387400-24388400	Enhancers	Fetal Kidney	kidney
12	chr20:24387400-24388400	Enhancers	Right Atrium	heart
13	chr20:24387600-24388400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:24387600-24388600	Enhancers	Primary T cells from cord blood	blood
15	chr20:24387600-24388600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr20:24387600-24388800	Enhancers	Lung	lung
17	chr20:24387800-24392400	Weak transcription	Fetal Thymus	thymus
18	chr20:24388000-24388600	Enhancers	Brain Angular Gyrus	brain
19	chr20:24388200-24388400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr20:24388200-24388600	Enhancers	Aorta	Aorta
21	chr20:24388200-24390000	Weak transcription	Dnd41	blood
22	chr20:24388400-24389600	Weak transcription	Fetal Kidney	kidney
23	chr20:24388400-24390400	Weak transcription	Brain Substantia Nigra	brain
24	chr20:24388600-24389800	Weak transcription	Primary T cells from cord blood	blood
25	chr20:24388600-24391800	Weak transcription	Aorta	Aorta
26	chr20:24389800-24390200	Enhancers	Primary T cells from cord blood	blood
27	chr20:24390000-24390200	Enhancers	Fetal Kidney	kidney
28	chr20:24390000-24390400	Enhancers	Dnd41	blood
29	chr20:24390200-24390400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:24390200-24390400	Enhancers	Fetal Brain Female	brain
31	chr20:24390400-24390600	Enhancers	Brain Substantia Nigra	brain
32	chr20:24390400-24391000	Weak transcription	Fetal Brain Female	brain
33	chr20:24390600-24393000	Enhancers	Fetal Brain Male	brain

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