Variant report

Variant	esv20396
Chromosome Location	chr20:25873968-25912787
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	chr20:25878572-25878801	HepG2	liver:	n/a	chr20:25878716-25878728 chr20:25878662-25878673
2	CEBPB	chr20:25878583-25878770	A549	lung:	n/a	chr20:25878716-25878728 chr20:25878662-25878673
3	CEBPB	chr20:25878573-25878789	IMR90	lung:	n/a	chr20:25878716-25878728 chr20:25878662-25878673
4	CEBPB	chr20:25906579-25906779	K562	blood:	n/a	n/a
5	CEBPB	chr20:25878611-25878724	K562	blood:	n/a	chr20:25878662-25878673
6	CTCF	chr20:25905400-25905550	HFF	foreskin:	n/a	n/a
7	CTCF	chr20:25904320-25904470	AG10803	skin:	n/a	n/a
8	CTCF	chr20:25882640-25882790	HPF	lung:	n/a	n/a
9	EBF1	chr20:25882488-25882882	GM12878	blood:	n/a	chr20:25882678-25882687 chr20:25882677-25882688
10	EBF1	chr20:25882545-25882857	GM12878	blood:	n/a	chr20:25882678-25882687 chr20:25882677-25882688
11	EBF1	chr20:25882471-25882882	GM12878	blood:	n/a	chr20:25882678-25882687 chr20:25882677-25882688
12	FOS	chr20:25882978-25883348	MCF10A-Er-Src	breast:	n/a	chr20:25883147-25883158
13	FOS	chr20:25882985-25883314	MCF10A-Er-Src	breast:	n/a	chr20:25883147-25883158
14	FOS	chr20:25882985-25883316	MCF10A-Er-Src	breast:	n/a	chr20:25883147-25883158
15	FOS	chr20:25882984-25883304	HUVEC	blood vessel:	n/a	chr20:25883147-25883158
16	FOSL2	chr20:25883008-25883303	SK-N-SH	brain:	n/a	n/a
17	FOSL2	chr20:25887426-25887764	HepG2	liver:	n/a	n/a
18	FOXA1	chr20:25895548-25895853	HepG2	liver:	n/a	n/a
19	FOXA1	chr20:25895564-25895827	HepG2	liver:	n/a	n/a
20	GATA2	chr20:25911148-25911497	K562	blood:	n/a	n/a
21	GATA3	chr20:25910449-25910615	SH-SY5Y	brain:	n/a	n/a
22	IRF1	chr20:25899860-25899924	K562	blood:	n/a	n/a
23	JUN	chr20:25895807-25895845	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr20:25887869-25888044	HepG2	liver:	n/a	chr20:25887905-25887913
25	JUND	chr20:25901778-25901930	HepG2	liver:	n/a	n/a
26	JUND	chr20:25882913-25883467	SK-N-SH	brain:	n/a	chr20:25883147-25883158
27	JUND	chr20:25883092-25883197	HepG2	liver:	n/a	chr20:25883147-25883158
28	MAFK	chr20:25881973-25882099	HepG2	liver:	n/a	n/a
29	MAFK	chr20:25899710-25899896	HepG2	liver:	n/a	n/a
30	MYC	chr20:25882985-25883411	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr20:25882999-25883313	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr20:25889979-25890133	A549	lung:	n/a	n/a
33	POLR2A	chr20:25906976-25907210	A549	lung:	n/a	n/a
34	POLR2A	chr20:25879004-25879151	A549	lung:	n/a	n/a
35	POLR2A	chr20:25908427-25908599	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr20:25909822-25909946	A549	lung:	n/a	n/a
37	POLR2A	chr20:25879162-25879171	A549	lung:	n/a	n/a
38	POLR2A	chr20:25897686-25897719	Gliobla	brain:	n/a	n/a
39	POLR2A	chr20:25879098-25879309	Gliobla	brain:	n/a	n/a
40	POLR2A	chr20:25897938-25898116	A549	lung:	n/a	n/a
41	POLR2A	chr20:25897683-25897784	A549	lung:	n/a	n/a
42	POLR2A	chr20:25879189-25879691	A549	lung:	n/a	n/a
43	POLR2A	chr20:25897645-25897652	A549	lung:	n/a	n/a
44	RXRA	chr20:25905420-25905784	HepG2	liver:	n/a	n/a
45	SP1	chr20:25905228-25905342	HepG2	liver:	n/a	n/a
46	STAT3	chr20:25888851-25888916	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr20:25885338-25885545	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr20:25895689-25895861	MCF10A-Er-Src	breast:	n/a	n/a
49	ZBTB33	chr20:25876018-25876156	HepG2	liver:	n/a	n/a
50	ZBTB33	chr20:25905401-25905661	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182A-8	chr20:25884448-25884505	NONHSAT079201
2	lnc-FAM182A-8	chr20:25884722-25884846	NONHSAT079201
3	lnc-FAM182A-8	chr20:25891698-25891832	NONHSAT079201
4	lnc-FAM182A-8	chr20:25893639-25897924	NONHSAT079201

Variant related genes	Relation type
CFTRP1	TF binding region

Extended variants
information (count: 958 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:958 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76502440	chr20:25878001-25878002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183137881	chr20:25878002-25878003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200069127	chr20:25878007-25878008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200895383	chr20:25878031-25878032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78706033	chr20:25878041-25878042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11906463	chr20:25878053-25878054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569458224	chr20:25878060-25878061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4317002	chr20:25878073-25878074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150212739	chr20:25878080-25878081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17355952	chr20:25878086-25878087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184235258	chr20:25878088-25878089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4563311	chr20:25878119-25878120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538491423	chr20:25878122-25878123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2211497	chr20:25878151-25878152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1833003	chr20:25878185-25878186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1833002	chr20:25878189-25878190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369363649	chr20:25878192-25878193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548898761	chr20:25878200-25878201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35451775	chr20:25878204-25878205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58096501	chr20:25878205-25878206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201403431	chr20:25878212-25878213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs398121275	chr20:25878216-25878217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4003119	chr20:25878218-25878219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75182566	chr20:25878236-25878237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2386733	chr20:25878252-25878253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2386734	chr20:25878259-25878260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202053124	chr20:25878270-25878271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199516600	chr20:25878271-25878272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113945807	chr20:25878301-25878302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1923049	chr20:25878319-25878320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6050975	chr20:25878332-25878333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187471559	chr20:25878365-25878366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4003120	chr20:25878377-25878378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3875269	chr20:25878386-25878387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76910468	chr20:25878408-25878409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554338370	chr20:25878415-25878416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577240533	chr20:25878427-25878428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539272219	chr20:25878428-25878429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556284411	chr20:25878433-25878434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80072135	chr20:25878448-25878449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3875270	chr20:25878463-25878464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60124075	chr20:25878486-25878487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77119822	chr20:25878496-25878497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151056040	chr20:25878515-25878516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180879187	chr20:25878516-25878517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78720704	chr20:25878533-25878534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111911590	chr20:25878535-25878536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59809048	chr20:25878540-25878541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541761327	chr20:25878547-25878548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75189889	chr20:25878548-25878549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25878000-25880400	Weak transcription	Right Atrium	heart
2	chr20:25879200-25879800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:25882400-25882800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr20:25882600-25883200	Enhancers	NHEK	skin
5	chr20:25882600-25883400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr20:25882800-25883200	Enhancers	Osteobl	bone
7	chr20:25887400-25888200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:25888600-25888800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:25909800-25911000	Enhancers	Dnd41	blood
10	chr20:25912600-25913200	Enhancers	Osteobl	bone
11	chr20:25912600-25913800	Enhancers	NHEK	skin

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