Variant report

Variant	nsv962562
Chromosome Location	chr20:22252222-22254826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:22252968-22252992	Lung_OC	lung:	n/a	n/a
2	CTCF	chr20:22253146-22253234	Pancreas_OC	pancreas:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXA2-13	chr20:22252690-22254092	NONHSAT078968

Variant related genes	Relation type
ENSG00000225170	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369924446	chr20:22252244-22252245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556127352	chr20:22252253-22252254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189226706	chr20:22252254-22252255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542368800	chr20:22252261-22252262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6113604	chr20:22252275-22252276	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371218057	chr20:22252292-22252293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572485987	chr20:22252301-22252302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541035944	chr20:22252303-22252304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181820027	chr20:22252314-22252315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533418074	chr20:22252352-22252353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547226329	chr20:22252370-22252371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550439343	chr20:22252447-22252448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568726165	chr20:22252490-22252491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535797535	chr20:22252496-22252497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185829958	chr20:22252497-22252498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189941073	chr20:22252501-22252502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182168506	chr20:22252503-22252504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570661254	chr20:22252504-22252505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186154430	chr20:22252527-22252528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150247032	chr20:22252533-22252534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55972046	chr20:22252547-22252548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200365	chr20:22252549-22252550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537144467	chr20:22252551-22252552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539400635	chr20:22252573-22252574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555916294	chr20:22252699-22252700	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs190270160	chr20:22252722-22252723	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs576538662	chr20:22252730-22252731	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs541423612	chr20:22252745-22252746	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs55733634	chr20:22252747-22252748	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs180739087	chr20:22252833-22252834	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs549636699	chr20:22252840-22252841	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs577967310	chr20:22252853-22252854	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs543786383	chr20:22252943-22252944	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs563605503	chr20:22253038-22253039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs529467703	chr20:22253061-22253062	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs138374630	chr20:22253066-22253067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs561456282	chr20:22253098-22253099	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs185397545	chr20:22253109-22253110	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs547468796	chr20:22253110-22253111	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs189956829	chr20:22253131-22253132	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs539402213	chr20:22253185-22253186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs183314193	chr20:22253198-22253199	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs59836638	chr20:22253223-22253224	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535647037	chr20:22253233-22253234	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs555559370	chr20:22253252-22253253	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs115309200	chr20:22253285-22253286	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs56379643	chr20:22253291-22253292	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs146210434	chr20:22253313-22253314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs536207974	chr20:22253352-22253353	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs189252364	chr20:22253384-22253385	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22251000-22252400	Enhancers	Stomach Smooth Muscle	stomach
2	chr20:22251000-22252600	Enhancers	Fetal Stomach	stomach
3	chr20:22254800-22255200	Enhancers	HSMMtube	muscle

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