Variant report

Variant	esv3380740
Chromosome Location	chr20:22422652-22425550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22423238..22424747-chr20:22550793..22553587,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576896871	chr20:22422689-22422690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545892331	chr20:22422737-22422738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138100095	chr20:22422751-22422752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532791112	chr20:22422770-22422771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576665659	chr20:22422793-22422794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6048093	chr20:22422835-22422836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562309015	chr20:22422841-22422842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11478556	chr20:22422858-22422859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527871883	chr20:22422863-22422864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546746105	chr20:22422865-22422866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374337051	chr20:22422905-22422906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560312803	chr20:22422935-22422936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376918850	chr20:22423007-22423008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6048094	chr20:22423021-22423022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189637033	chr20:22423029-22423030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537789485	chr20:22423103-22423104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548676840	chr20:22423107-22423108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537501079	chr20:22423111-22423112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567951793	chr20:22423112-22423113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533755522	chr20:22423132-22423133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574541063	chr20:22423134-22423135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369771236	chr20:22423135-22423136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553525645	chr20:22423144-22423145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570617206	chr20:22423163-22423164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539882338	chr20:22423173-22423174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193004231	chr20:22423234-22423235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556323778	chr20:22423240-22423241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576382024	chr20:22423264-22423265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185720972	chr20:22423287-22423288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556079836	chr20:22423343-22423344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375788391	chr20:22423353-22423354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6137659	chr20:22423359-22423360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572742542	chr20:22423381-22423382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189847582	chr20:22423392-22423393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529687073	chr20:22423445-22423446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542043789	chr20:22423452-22423453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181607234	chr20:22423479-22423480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369843300	chr20:22423503-22423504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185977623	chr20:22423504-22423505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6137660	chr20:22423507-22423508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373039407	chr20:22423514-22423515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111907335	chr20:22423520-22423521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562388254	chr20:22423532-22423533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531323562	chr20:22423546-22423547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6137661	chr20:22423557-22423558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200888431	chr20:22423572-22423573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149543380	chr20:22423582-22423583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373675104	chr20:22423601-22423602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527537038	chr20:22423610-22423611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188484183	chr20:22423740-22423741	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
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22419800-22424000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:22420600-22427600	Weak transcription	A549	lung

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