Variant report

Variant	esv3369697
Chromosome Location	chr20:24497502-24499550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192773745	chr20:24497517-24497518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560643739	chr20:24497547-24497548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144963760	chr20:24497583-24497584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533312889	chr20:24497625-24497626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6138311	chr20:24497671-24497672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546861188	chr20:24497694-24497695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567180095	chr20:24497697-24497698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28822488	chr20:24497703-24497704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184850516	chr20:24497718-24497719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568878431	chr20:24497795-24497796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537793359	chr20:24497815-24497816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374606221	chr20:24497842-24497843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568054414	chr20:24497849-24497850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534026376	chr20:24497861-24497862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112275538	chr20:24497868-24497869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576941628	chr20:24497877-24497878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545709256	chr20:24497905-24497906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368432941	chr20:24497921-24497922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556001631	chr20:24497937-24497938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575239354	chr20:24497939-24497940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112475742	chr20:24497944-24497945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200648914	chr20:24497948-24497949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561464733	chr20:24497949-24497950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184945420	chr20:24497958-24497959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550289625	chr20:24497962-24497963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372296274	chr20:24497973-24497974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189327317	chr20:24497974-24497975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532710914	chr20:24497992-24497993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147812387	chr20:24498023-24498024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569567339	chr20:24498057-24498058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181668268	chr20:24498067-24498068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547861547	chr20:24498079-24498080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568175926	chr20:24498101-24498102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533673457	chr20:24498129-24498130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112294892	chr20:24498191-24498192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112356803	chr20:24498197-24498198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111262681	chr20:24498203-24498204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186201992	chr20:24498212-24498213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570324078	chr20:24498259-24498260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369392179	chr20:24498267-24498268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539202190	chr20:24498287-24498288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556088825	chr20:24498302-24498303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111766440	chr20:24498307-24498308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575925058	chr20:24498329-24498330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547879815	chr20:24498340-24498341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374171218	chr20:24498381-24498382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554683887	chr20:24498395-24498396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373117602	chr20:24498396-24498397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368363725	chr20:24498397-24498398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566422266	chr20:24498408-24498409	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24481600-24504200	Weak transcription	Fetal Brain Male	brain
2	chr20:24488600-24498800	Weak transcription	Brain Hippocampus Middle	brain
3	chr20:24491400-24508600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr20:24498800-24499200	Enhancers	Brain Hippocampus Middle	brain
5	chr20:24499200-24499400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr20:24499200-24503000	Weak transcription	Brain Hippocampus Middle	brain
7	chr20:24499400-24501400	Weak transcription	Brain Inferior Temporal Lobe	brain

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