Variant report

Variant	esv3437208
Chromosome Location	chr20:13632152-13636750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184033392	chr20:13632205-13632206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147433714	chr20:13632206-13632207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573030705	chr20:13632220-13632221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74595201	chr20:13632225-13632226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2423736	chr20:13632266-13632267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575115302	chr20:13632305-13632306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60686384	chr20:13632328-13632329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563850249	chr20:13632331-13632332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535767148	chr20:13632365-13632366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577360089	chr20:13632378-13632379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546992556	chr20:13632382-13632383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539841624	chr20:13632411-13632412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570073584	chr20:13632472-13632473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560124179	chr20:13632496-13632497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113269334	chr20:13632528-13632529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539036018	chr20:13632545-13632546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188950106	chr20:13632575-13632576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376789965	chr20:13632585-13632586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562094009	chr20:13632589-13632590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531136635	chr20:13632590-13632591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551236408	chr20:13632634-13632635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142920815	chr20:13632663-13632664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151100124	chr20:13632681-13632682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375806029	chr20:13632695-13632696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566872042	chr20:13632732-13632733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535355894	chr20:13632745-13632746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555640555	chr20:13632773-13632774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568673329	chr20:13632775-13632776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553718787	chr20:13632839-13632840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73090169	chr20:13632850-13632851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs201716294	chr20:13632854-13632855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577297825	chr20:13632881-13632882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557433214	chr20:13632889-13632890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573810005	chr20:13632943-13632944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373898694	chr20:13632953-13632954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192913469	chr20:13632984-13632985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141047402	chr20:13632990-13632991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112406577	chr20:13633032-13633033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2423737	chr20:13633055-13633056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562358266	chr20:13633109-13633110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73090171	chr20:13633118-13633119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs6033789	chr20:13633167-13633168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112594907	chr20:13633189-13633190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2423738	chr20:13633190-13633191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs557312008	chr20:13633194-13633195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71188169	chr20:13633195-13633196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373058878	chr20:13633230-13633231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554220048	chr20:13633233-13633234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73254604	chr20:13633249-13633250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546218917	chr20:13633268-13633269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13620200-13634800	Weak transcription	Right Atrium	heart
2	chr20:13631000-13633600	Weak transcription	Fetal Stomach	stomach
3	chr20:13631600-13634800	Weak transcription	Fetal Muscle Leg	muscle
4	chr20:13631600-13637200	Weak transcription	Fetal Lung	lung
5	chr20:13633600-13634200	Enhancers	Fetal Stomach	stomach
6	chr20:13633800-13635200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:13634200-13634800	Weak transcription	Fetal Stomach	stomach
8	chr20:13634200-13642000	Weak transcription	Aorta	Aorta
9	chr20:13634800-13635000	Enhancers	Fetal Stomach	stomach
10	chr20:13634800-13635000	Enhancers	Right Atrium	heart
11	chr20:13634800-13635200	Enhancers	Fetal Muscle Leg	muscle
12	chr20:13634800-13635400	Enhancers	K562	blood
13	chr20:13635000-13636000	Weak transcription	Right Atrium	heart
14	chr20:13635400-13636600	Enhancers	GM12878-XiMat	blood
15	chr20:13636000-13636200	Enhancers	Right Atrium	heart
16	chr20:13636600-13638400	Weak transcription	GM12878-XiMat	blood

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