Variant report

Variant	esv1821271
Chromosome Location	chr22:21829165-21917200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1464)
CpG islands
(count:307)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1464 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21910246-21910718	K562	blood:	n/a	n/a
2	ARID3A	chr22:21910418-21910628	HepG2	liver:	n/a	n/a
3	ATF1	chr22:21910267-21910662	K562	blood:	n/a	n/a
4	ATF3	chr22:21866127-21866289	K562	blood:	n/a	n/a
5	ATF3	chr22:21910162-21910876	K562	blood:	n/a	n/a
6	ATF3	chr22:21910129-21910721	K562	blood:	n/a	n/a
7	BACH1	chr22:21910262-21910699	K562	blood:	n/a	n/a
8	BATF	chr22:21871643-21871836	GM12878	blood:	n/a	n/a
9	BATF	chr22:21888942-21889159	GM12878	blood:	n/a	n/a
10	BCL11A	chr22:21868416-21868688	GM12878	blood:	n/a	n/a
11	BCL11A	chr22:21904654-21904960	GM12878	blood:	n/a	n/a
12	BCL11A	chr22:21888998-21889271	GM12878	blood:	n/a	n/a
13	BCL3	chr22:21910210-21910678	A549	lung:	n/a	n/a
14	BHLHE40	chr22:21880932-21881265	HepG2	liver:	n/a	n/a
15	BHLHE40	chr22:21864628-21865020	HepG2	liver:	n/a	chr22:21864696-21864712
16	BHLHE40	chr22:21904568-21904918	HepG2	liver:	n/a	n/a
17	BHLHE40	chr22:21872293-21872552	HepG2	liver:	n/a	n/a
18	BHLHE40	chr22:21889022-21889308	HepG2	liver:	n/a	n/a
19	BHLHE40	chr22:21910291-21910722	K562	blood:	n/a	n/a
20	CBX3	chr22:21850651-21851342	K562	blood:	n/a	n/a
21	CBX3	chr22:21898573-21899810	K562	blood:	n/a	n/a
22	CBX3	chr22:21894438-21895066	K562	blood:	n/a	n/a
23	CBX3	chr22:21910069-21911201	K562	blood:	n/a	n/a
24	CBX3	chr22:21871657-21872930	K562	blood:	n/a	n/a
25	CBX3	chr22:21867672-21871343	K562	blood:	n/a	n/a
26	CBX3	chr22:21910176-21910813	HCT-116	colon:	n/a	n/a
27	CBX3	chr22:21888819-21889586	K562	blood:	n/a	n/a
28	CBX3	chr22:21894581-21895053	K562	blood:	n/a	n/a
29	CBX3	chr22:21885463-21886801	K562	blood:	n/a	n/a
30	CBX3	chr22:21864312-21865352	K562	blood:	n/a	n/a
31	CBX3	chr22:21903838-21905213	K562	blood:	n/a	n/a
32	CCNT2	chr22:21910288-21910581	K562	blood:	n/a	n/a
33	CEBPB	chr22:21910315-21910989	K562	blood:	n/a	n/a
34	CEBPB	chr22:21862203-21862460	K562	blood:	n/a	n/a
35	CEBPB	chr22:21898692-21899256	K562	blood:	n/a	n/a
36	CEBPB	chr22:21872656-21872863	K562	blood:	n/a	n/a
37	CEBPB	chr22:21862800-21862954	K562	blood:	n/a	n/a
38	CEBPB	chr22:21910187-21910689	MCF-7	breast:	n/a	n/a
39	CEBPB	chr22:21861855-21862565	K562	blood:	n/a	n/a
40	CEBPB	chr22:21906821-21907131	K562	blood:	n/a	n/a
41	CEBPB	chr22:21888917-21889544	K562	blood:	n/a	n/a
42	CEBPB	chr22:21910261-21910925	IMR90	lung:	n/a	n/a
43	CEBPB	chr22:21881166-21881539	K562	blood:	n/a	n/a
44	CEBPB	chr22:21881077-21881692	K562	blood:	n/a	n/a
45	CEBPB	chr22:21864599-21865192	K562	blood:	n/a	chr22:21864876-21864887
46	CEBPB	chr22:21906420-21906649	K562	blood:	n/a	n/a
47	CEBPB	chr22:21910305-21910988	A549	lung:	n/a	n/a
48	CEBPB	chr22:21910184-21910983	K562	blood:	n/a	n/a
49	CEBPB	chr22:21910794-21910832	HepG2	liver:	n/a	n/a
50	CEBPB	chr22:21906116-21906664	K562	blood:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21871920-21871970	HCM	heart:	n/a
2	chr22:21871914-21871964	SK-N-MC	brain:	n/a
3	chr22:21871920-21871970	HCM	heart:	n/a
4	chr22:21871914-21871964	SK-N-MC	brain:	n/a
5	chr22:21867049-21867099	GM12878	blood:	n/a
6	chr22:21871914-21871964	ProgFib	skin:	n/a
7	chr22:21867049-21867099	GM19239	blood:	n/a
8	chr22:21871920-21871970	AG04450	lung:	fetal
9	chr22:21871920-21871970	T-47D	breast:	n/a
10	chr22:21871914-21871964	K562	blood:	n/a
11	chr22:21867049-21867099	HNPCEpiC	eye:	n/a
12	chr22:21871920-21871970	K562	blood:	n/a
13	chr22:21871914-21871964	HRCEpiC	kidney:	n/a
14	chr22:21871920-21871970	GM19239	blood:	n/a
15	chr22:21871914-21871964	HL-60	blood:	n/a
16	chr22:21867049-21867099	HepG2	liver:	n/a
17	chr22:21867049-21867099	ovcar-3	ovarian:	n/a
18	chr22:21871914-21871964	HPAEpiC	pulmonary alveolar:	n/a
19	chr22:21871564-21871614	PFSK-1	brain:	n/a
20	chr22:21871920-21871970	HNPCEpiC	eye:	n/a
21	chr22:21871920-21871970	HEK293	kidney:	embryo
22	chr22:21871914-21871964	LNCaP	prostate:	n/a
23	chr22:21871914-21871964	AG04449	skin:	fetal
24	chr22:21867049-21867099	ECC-1	luminal epithelium:	n/a
25	chr22:21871564-21871614	GM06990	blood:	n/a
26	chr22:21867049-21867099	AoSMC	blood vessel:	n/a
27	chr22:21867049-21867099	AG10803	skin:	n/a
28	chr22:21871920-21871970	Jurkat	blood:	n/a
29	chr22:21871564-21871614	SK-N-SH_RA	brain:	n/a
30	chr22:21871914-21871964	GM12878	blood:	n/a
31	chr22:21871564-21871614	AoSMC	blood vessel:	n/a
32	chr22:21871564-21871614	Caco-2	colon:	n/a
33	chr22:21871564-21871614	HCM	heart:	n/a
34	chr22:21871914-21871964	BJ	skin:	n/a
35	chr22:21871920-21871970	SKMC	muscle:	n/a
36	chr22:21906477-21906527	AG04450	lung:	fetal
37	chr22:21871564-21871614	CMK	blood:	n/a
38	chr22:21871920-21871970	SAEC	small airway:	n/a
39	chr22:21871564-21871614	K562	blood:	n/a
40	chr22:21871914-21871964	NHBE	bronchial:	n/a
41	chr22:21871564-21871614	GM12892	blood:	n/a
42	chr22:21906477-21906527	HCF	heart:	n/a
43	chr22:21871914-21871964	PFSK-1	brain:	n/a
44	chr22:21871920-21871970	HRE	kidney:	n/a
45	chr22:21871564-21871614	SK-N-SH	brain:	n/a
46	chr22:21906477-21906527	U87	brain:	n/a
47	chr22:21871920-21871970	HRCEpiC	kidney:	n/a
48	chr22:21906477-21906527	IMR90	lung:	fetal
49	chr22:21871914-21871964	HEEpiC	esophagus:	n/a
50	chr22:21906477-21906527	ECC-1	luminal epithelium:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21910454..21912029-chr22:22004763..22007007,2	MCF-7	breast:
2	chr22:21908736..21910357-chr22:21980107..21982427,2	K562	blood:
3	chr22:21910242..21911830-chr22:21925513..21928236,2	K562	blood:
4	chr22:21910278..21913507-chr22:21994549..21997856,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIMBP3C-1	chr22:21899633-21899933	NONHSAT083690
2	lnc-RIMBP3C-2	chr22:21868423-21868512	NONHSAT083686
3	lnc-RIMBP3C-2	chr22:21846265-21846383	NONHSAT083686

No data

Variant related genes	Relation type
RN7SKP221	TF binding region
ENSG00000252799	TF binding region
UBE2L3	TF binding region
ENSG00000252143	TF binding region
ENSG00000252605	TF binding region
RIMBP3C	TF binding region
PI4KAP2	TF binding region
RN7SKP221	CpG island
ENSG00000252799	CpG island
UBE2L3	CpG island
ENSG00000252143	CpG island
ENSG00000252605	CpG island
RIMBP3C	CpG island
PI4KAP2	CpG island
ENSG00000273342	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000100023	chromatin interactions

Extended variants
information (count: 851 )
Associated
traits (count: 226 )

Variant overlapped rSNPs/rCNVs (count:851 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2539901	chr22:21829182-21829183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575153245	chr22:21829189-21829190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2539902	chr22:21829190-21829191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189747048	chr22:21829207-21829208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs434916	chr22:21829215-21829216	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs199799941	chr22:21829248-21829249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs647682	chr22:21829254-21829255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2308062	chr22:21829278-21829279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62237336	chr22:21829300-21829301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542704962	chr22:21829340-21829341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559846902	chr22:21829346-21829347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56779650	chr22:21829349-21829350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545544353	chr22:21829356-21829357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4051000	chr22:21829361-21829362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4051001	chr22:21829363-21829364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565353552	chr22:21829411-21829412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3016136	chr22:21829418-21829419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531202023	chr22:21829422-21829423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551324311	chr22:21829431-21829432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560850713	chr22:21829437-21829438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs402694	chr22:21829480-21829481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140118179	chr22:21829507-21829508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113567369	chr22:21829514-21829515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57294418	chr22:21829516-21829517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546373015	chr22:21829524-21829525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377578228	chr22:21829555-21829556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566512914	chr22:21829557-21829558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532114899	chr22:21829567-21829568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552311692	chr22:21829571-21829572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370710590	chr22:21829577-21829578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568743274	chr22:21829586-21829587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375088899	chr22:21829601-21829602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144608613	chr22:21829617-21829618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554486358	chr22:21829624-21829625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368463856	chr22:21829660-21829661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567320389	chr22:21829699-21829700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536602784	chr22:21829703-21829704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553103154	chr22:21829731-21829732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573254594	chr22:21829743-21829744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545192754	chr22:21829766-21829767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559173401	chr22:21829830-21829831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575943101	chr22:21829879-21829880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544910885	chr22:21829955-21829956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561613877	chr22:21830010-21830011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530418972	chr22:21830019-21830020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540183121	chr22:21830025-21830026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559905343	chr22:21830027-21830028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532215195	chr22:21830049-21830050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552023817	chr22:21830069-21830070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56177906	chr22:21830123-21830124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:226)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
22q11.2 deletion syndrome	22563040	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cognitive impairment	21505072	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21803600-21836000	Weak transcription	Fetal Intestine Large	intestine
2	chr22:21804200-21835200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr22:21806400-21836000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:21822800-21829200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr22:21822800-21830600	Weak transcription	Colonic Mucosa	Colon
6	chr22:21822800-21832400	Weak transcription	Fetal Intestine Small	intestine
7	chr22:21822800-21833800	Weak transcription	Gastric	stomach
8	chr22:21822800-21833800	Weak transcription	Ovary	ovary
9	chr22:21822800-21835400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr22:21822800-21835600	Weak transcription	Thymus	Thymus
11	chr22:21822800-21836000	Weak transcription	Lung	lung
12	chr22:21822800-21836200	Weak transcription	Adipose Nuclei	Adipose
13	chr22:21822800-21836400	Weak transcription	HepG2	liver
14	chr22:21822800-21837400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:21822800-21841800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr22:21822800-21845200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:21822800-21845600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:21822800-21847000	Weak transcription	K562	blood
19	chr22:21823600-21836200	Weak transcription	Esophagus	oesophagus
20	chr22:21823600-21843600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:21823800-21833800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:21823800-21835600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr22:21824000-21833800	Weak transcription	Spleen	Spleen
24	chr22:21824000-21834600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:21824000-21835800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr22:21824000-21842400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:21824200-21833600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr22:21824200-21833800	Weak transcription	Fetal Stomach	stomach
29	chr22:21824200-21835400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr22:21824200-21835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:21824200-21835400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr22:21824400-21830000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr22:21826400-21846200	Weak transcription	Fetal Muscle Leg	muscle
34	chr22:21828400-21834200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr22:21828600-21833800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr22:21828800-21829600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:21828800-21829600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr22:21829600-21833800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:21829600-21855600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr22:21830000-21835200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr22:21832400-21832600	Strong transcription	Fetal Intestine Small	intestine
42	chr22:21832600-21833800	Weak transcription	Fetal Intestine Small	intestine
43	chr22:21833800-21834400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:21833800-21834400	Strong transcription	Gastric	stomach
45	chr22:21833800-21834400	Strong transcription	Spleen	Spleen
46	chr22:21833800-21834600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:21833800-21834600	Strong transcription	Fetal Intestine Small	intestine
48	chr22:21833800-21834600	Strong transcription	Fetal Stomach	stomach
49	chr22:21834400-21837000	Weak transcription	Gastric	stomach
50	chr22:21834400-21842000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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