Variant report

Variant	esv275593
Chromosome Location	chr20:15235424-15239469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4473454	chr20:15235424-15235425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189408271	chr20:15235492-15235493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73614403	chr20:15235503-15235504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549920480	chr20:15235555-15235556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568379523	chr20:15235600-15235601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75017119	chr20:15235601-15235602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74179767	chr20:15235608-15235609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73101205	chr20:15235663-15235664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141512331	chr20:15235698-15235699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369060583	chr20:15235732-15235733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181822560	chr20:15235773-15235774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547842167	chr20:15235796-15235797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544026454	chr20:15235805-15235806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73262749	chr20:15235839-15235840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186184264	chr20:15235850-15235851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529595431	chr20:15235855-15235856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555362064	chr20:15235881-15235882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576433957	chr20:15235882-15235883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549427177	chr20:15235917-15235918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150548314	chr20:15235935-15235936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528477557	chr20:15235973-15235974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149616884	chr20:15236000-15236001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574026241	chr20:15236004-15236005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190463197	chr20:15236008-15236009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74179768	chr20:15236079-15236080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7274642	chr20:15236087-15236088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs571936185	chr20:15236092-15236093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7274602	chr20:15236096-15236097	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75721705	chr20:15236128-15236129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571396134	chr20:15236135-15236136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146111497	chr20:15236153-15236154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140191684	chr20:15236168-15236169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17297763	chr20:15237211-15237212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553117104	chr20:15237302-15237303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73101209	chr20:15237376-15237377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73101210	chr20:15237384-15237385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187402062	chr20:15237385-15237386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543256281	chr20:15237388-15237389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2223007	chr20:15237413-15237414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs56202220	chr20:15237416-15237417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555508357	chr20:15237420-15237421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573754088	chr20:15237460-15237461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148517882	chr20:15237474-15237475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559481746	chr20:15237556-15237557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551356758	chr20:15237573-15237574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113291571	chr20:15237576-15237577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117813844	chr20:15237617-15237618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142796901	chr20:15237676-15237677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530823171	chr20:15237677-15237678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7262594	chr20:15237689-15237690	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15234000-15236000	Weak transcription	Gastric	stomach
2	chr20:15236000-15236200	Enhancers	Gastric	stomach
3	chr20:15237200-15238400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:15237600-15238400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:15237800-15238200	Enhancers	HMEC	breast

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