Variant report

Variant	esv3383871
Chromosome Location	chr20:26192945-26196095
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	CEBPB	chr20:26193151-26193176	HepG2	liver:	n/a	n/a
2	FOXA1	chr20:26195751-26195948	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:26192921..26195094-chr20:26197740..26199404,2	K562	blood:

Variant related genes	Relation type
MIR663A	TF binding region

Extended variants
information (count: 121 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189148335	chr20:26192945-26192946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140208974	chr20:26192961-26192962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145296141	chr20:26192987-26192988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181521549	chr20:26193002-26193003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4289263	chr20:26193011-26193012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546380718	chr20:26193028-26193029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6051227	chr20:26193095-26193096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529503194	chr20:26193110-26193111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146514690	chr20:26193113-26193114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111688947	chr20:26193116-26193117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77739790	chr20:26193160-26193161	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs562098872	chr20:26193165-26193166	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs527651519	chr20:26193169-26193170	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs547659386	chr20:26193191-26193192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141151273	chr20:26193217-26193218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201715842	chr20:26193300-26193301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199866663	chr20:26193309-26193310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376160489	chr20:26193318-26193319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570565681	chr20:26193357-26193358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185834424	chr20:26193389-26193390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58946415	chr20:26193419-26193420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113173289	chr20:26193423-26193424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78749842	chr20:26193424-26193425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201831454	chr20:26193436-26193437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549554830	chr20:26193465-26193466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527391609	chr20:26193487-26193488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569662518	chr20:26193515-26193516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376965685	chr20:26193540-26193541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552955233	chr20:26193557-26193558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146219087	chr20:26193565-26193566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73109833	chr20:26193570-26193571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114395596	chr20:26193572-26193573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538176437	chr20:26193583-26193584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534292913	chr20:26193624-26193625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550077589	chr20:26193628-26193629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138575124	chr20:26193629-26193630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201034462	chr20:26193633-26193634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191382506	chr20:26193650-26193651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546468449	chr20:26193651-26193652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181054510	chr20:26193660-26193661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149302493	chr20:26193665-26193666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542525266	chr20:26193690-26193691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143686816	chr20:26193718-26193719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551174582	chr20:26193737-26193738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540985421	chr20:26193774-26193775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148113588	chr20:26193794-26193795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533248822	chr20:26193842-26193843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371270815	chr20:26193918-26193919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556680389	chr20:26193952-26193953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73907732	chr20:26193972-26193973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26190400-26196000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr20:26190400-26196200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr20:26190400-26196800	Weak transcription	HSMM	muscle
4	chr20:26190600-26194000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr20:26194000-26194400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr20:26196000-26197600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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