Variant report

Variant	esv1828963
Chromosome Location	chr20:21858742-21862662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562313448	chr20:21861819-21861820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183454828	chr20:21861830-21861831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73298247	chr20:21861840-21861841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112908705	chr20:21861926-21861927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531959368	chr20:21861950-21861951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551790278	chr20:21862004-21862005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569022116	chr20:21862028-21862029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142357306	chr20:21862040-21862041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76895558	chr20:21862059-21862060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553720405	chr20:21862066-21862067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6082540	chr20:21862077-21862078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534016439	chr20:21862095-21862096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536743719	chr20:21862104-21862105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554301752	chr20:21862113-21862114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188113590	chr20:21862123-21862124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192689864	chr20:21862143-21862144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556618605	chr20:21862144-21862145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184986894	chr20:21862158-21862159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543905992	chr20:21862194-21862195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542520760	chr20:21862236-21862237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189102736	chr20:21862317-21862318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548680188	chr20:21862318-21862319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527883417	chr20:21862393-21862394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541255402	chr20:21862412-21862413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559800223	chr20:21862444-21862445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532092472	chr20:21862452-21862453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117098977	chr20:21862468-21862469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369391724	chr20:21862520-21862521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562506981	chr20:21862550-21862551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531464254	chr20:21862559-21862560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548453408	chr20:21862590-21862591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576558898	chr20:21862609-21862610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146645361	chr20:21862619-21862620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373870452	chr20:21862654-21862655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533950870	chr20:21862655-21862656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80082044	chr20:21862662-21862663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21861800-21868600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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