Variant report

Variant	esv3455629
Chromosome Location	chr22:23477477-23480325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr22:23479985-23480362	GM12878	blood:	n/a	n/a
2	ATF2	chr22:23479972-23480805	GM12878	blood:	n/a	n/a
3	BACH1	chr22:23478063-23478066	K562	blood:	n/a	n/a
4	BCL11A	chr22:23480179-23480492	GM12878	blood:	n/a	chr22:23480269-23480278
5	BCLAF1	chr22:23479990-23480558	GM12878	blood:	n/a	chr22:23480269-23480278
6	CEBPB	chr22:23479984-23480572	GM12878	blood:	n/a	n/a
7	CHD1	chr22:23480122-23481193	GM12878	blood:	n/a	n/a
8	CHD1	chr22:23479769-23479902	GM12878	blood:	n/a	n/a
9	CHD2	chr22:23480072-23480640	GM12878	blood:	n/a	n/a
10	EBF1	chr22:23479350-23479790	GM12878	blood:	n/a	n/a
11	EBF1	chr22:23479406-23479713	GM12878	blood:	n/a	n/a
12	EBF1	chr22:23478198-23478592	GM12878	blood:	n/a	n/a
13	EBF1	chr22:23479987-23480518	GM12878	blood:	n/a	n/a
14	EBF1	chr22:23477884-23478144	GM12878	blood:	n/a	n/a
15	EBF1	chr22:23478222-23478604	GM12878	blood:	n/a	n/a
16	EBF1	chr22:23479899-23480722	GM12878	blood:	n/a	n/a
17	EBF1	chr22:23478079-23478093	GM12878	blood:	n/a	n/a
18	EBF1	chr22:23479989-23480567	GM12878	blood:	n/a	n/a
19	ELF1	chr22:23479992-23480507	GM12878	blood:	n/a	chr22:23480265-23480278
20	ELF1	chr22:23480035-23480535	K562	blood:	n/a	chr22:23480265-23480278
21	ELK1	chr22:23477978-23477988	GM12878	blood:	n/a	n/a
22	EP300	chr22:23479995-23480787	GM12878	blood:	n/a	chr22:23480267-23480281 chr22:23480268-23480277
23	EP300	chr22:23480208-23480527	GM12878	blood:	n/a	chr22:23480267-23480281 chr22:23480268-23480277
24	EP300	chr22:23479955-23480621	GM12878	blood:	n/a	chr22:23480267-23480281 chr22:23480268-23480277
25	EP300	chr22:23480048-23480424	GM12878	blood:	n/a	chr22:23480267-23480281 chr22:23480268-23480277
26	EP300	chr22:23477768-23478126	K562	blood:	n/a	n/a
27	ETS1	chr22:23479978-23480433	GM12878	blood:	n/a	chr22:23480269-23480278 chr22:23480269-23480283 chr22:23480270-23480281
28	FOXM1	chr22:23479893-23480545	GM12878	blood:	n/a	n/a
29	IKZF1	chr22:23479607-23481463	GM12878	blood:	n/a	n/a
30	IRF3	chr22:23477963-23477973	GM12878	blood:	n/a	n/a
31	MAX	chr22:23480120-23480748	GM12878	blood:	n/a	n/a
32	MAX	chr22:23478037-23478167	GM12878	blood:	n/a	n/a
33	MEF2A	chr22:23480035-23480589	GM12878	blood:	n/a	n/a
34	MTA3	chr22:23479946-23480479	GM12878	blood:	n/a	n/a
35	MTA3	chr22:23479946-23481534	GM12878	blood:	n/a	n/a
36	NFATC1	chr22:23480037-23480546	GM12878	blood:	n/a	n/a
37	NFIC	chr22:23479860-23480737	GM12878	blood:	n/a	n/a
38	NFIC	chr22:23479979-23481110	GM12878	blood:	n/a	n/a
39	PAX5	chr22:23480063-23480428	GM12878	blood:	n/a	chr22:23480269-23480278
40	PAX5	chr22:23480177-23480712	GM12878	blood:	n/a	chr22:23480269-23480278
41	PAX5	chr22:23479990-23480614	GM12878	blood:	n/a	chr22:23480269-23480278
42	PML	chr22:23480007-23480581	GM12878	blood:	n/a	n/a
43	POLR2A	chr22:23480021-23480838	GM12892	blood:	n/a	n/a
44	POLR2A	chr22:23478294-23478636	GM12878	blood:	n/a	n/a
45	POLR2A	chr22:23480172-23480444	GM12891	blood:	n/a	n/a
46	POLR2A	chr22:23478412-23478481	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr22:23479478-23479794	GM12878	blood:	n/a	n/a
48	POLR2A	chr22:23479979-23480450	GM12878	blood:	n/a	n/a
49	POLR2A	chr22:23480073-23480491	HL-60	blood:	n/a	n/a
50	POLR2A	chr22:23480012-23480810	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23480087-23480137	Hepatocyte	liver:	n/a
2	chr22:23480087-23480137	LNCaP	prostate:	n/a
3	chr22:23480087-23480137	NH-A	brain:	n/a
4	chr22:23480087-23480137	PrEC	prostate:	n/a
5	chr22:23480087-23480137	ECC-1	luminal epithelium:	n/a
6	chr22:23480087-23480137	AG10803	skin:	n/a
7	chr22:23480087-23480137	BJ	skin:	n/a
8	chr22:23480087-23480137	GM06990	blood:	n/a
9	chr22:23480087-23480137	HCF	heart:	n/a
10	chr22:23480087-23480137	NHBE	bronchial:	n/a
11	chr22:23480087-23480137	HL-60	blood:	n/a
12	chr22:23480087-23480137	MCF-7	breast:	n/a
13	chr22:23480087-23480137	HIPEpiC	eye:	n/a
14	chr22:23480087-23480137	SK-N-SH_RA	brain:	n/a
15	chr22:23480087-23480137	PFSK-1	brain:	n/a
16	chr22:23480087-23480137	PANC-1	pancreas:	n/a
17	chr22:23480087-23480137	T-47D	breast:	n/a
18	chr22:23480087-23480137	CMK	blood:	n/a
19	chr22:23480087-23480137	K562	blood:	n/a
20	chr22:23480087-23480137	GM19239	blood:	n/a
21	chr22:23480087-23480137	HUVEC	blood vessel:	n/a
22	chr22:23480087-23480137	A549	lung:	n/a
23	chr22:23480087-23480137	HCT-116	colon:	n/a
24	chr22:23480087-23480137	Jurkat	blood:	n/a
25	chr22:23480087-23480137	RPTEC	kidney:	n/a
26	chr22:23480087-23480137	GM12878	blood:	n/a
27	chr22:23480087-23480137	AG04449	skin:	fetal
28	chr22:23480087-23480137	HEEpiC	esophagus:	n/a
29	chr22:23480087-23480137	BE2_C	brain:	n/a
30	chr22:23480087-23480137	SK-N-MC	brain:	n/a
31	chr22:23480087-23480137	AG04450	lung:	fetal
32	chr22:23480087-23480137	HRPEpiC	eye:	n/a
33	chr22:23480087-23480137	HEK293	kidney:	embryo
34	chr22:23480087-23480137	IMR90	lung:	fetal
35	chr22:23480087-23480137	SKMC	muscle:	n/a
36	chr22:23480087-23480137	GM12891	blood:	n/a
37	chr22:23480087-23480137	H1-hESC	embryonic stem cell:	embryo
38	chr22:23480087-23480137	HepG2	liver:	n/a
39	chr22:23480087-23480137	AoSMC	blood vessel:	n/a
40	chr22:23480087-23480137	U87	brain:	n/a
41	chr22:23480087-23480137	NT2-D1	testis:	n/a
42	chr22:23480087-23480137	HMEC	breast:	n/a
43	chr22:23480087-23480137	HRCEpiC	kidney:	n/a
44	chr22:23480087-23480137	ProgFib	skin:	n/a
45	chr22:23480087-23480137	SAEC	small airway:	n/a
46	chr22:23480087-23480137	SK-N-SH	brain:	n/a
47	chr22:23480087-23480137	AG09309	skin:	n/a
48	chr22:23480087-23480137	HRE	kidney:	n/a
49	chr22:23480087-23480137	HCM	heart:	n/a
50	chr22:23480087-23480137	GM12892	blood:	n/a

No data

Variant related genes	Relation type
RTDR1	TF binding region
ENSG00000272019	TF binding region
ENSG00000221069	TF binding region
RTDR1	CpG island
ENSG00000272019	CpG island
ENSG00000221069	CpG island

Extended variants
information (count: 91 )
Associated
traits (count: 206 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371154684	chr22:23477477-23477478	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369898043	chr22:23477502-23477503	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5759597	chr22:23477503-23477504	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28729379	chr22:23477504-23477505	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573479028	chr22:23477526-23477527	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs55649510	chr22:23477529-23477530	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555313798	chr22:23477548-23477549	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565652165	chr22:23477559-23477560	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534372716	chr22:23477561-23477562	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192224496	chr22:23477563-23477564	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189515163	chr22:23477609-23477610	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6003521	chr22:23477633-23477634	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1987042	chr22:23477644-23477645	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556559847	chr22:23477666-23477667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376716809	chr22:23477685-23477686	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368668812	chr22:23477686-23477687	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367797864	chr22:23477701-23477702	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139252957	chr22:23477703-23477704	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373344019	chr22:23477709-23477710	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541875270	chr22:23477810-23477811	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
21	rs187222458	chr22:23477811-23477812	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
22	rs527790915	chr22:23477842-23477843	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
23	rs541536596	chr22:23477933-23477934	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
24	rs142621592	chr22:23477947-23477948	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
25	rs4820539	chr22:23477970-23477971	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
26	rs73386682	chr22:23478027-23478028	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
27	rs375134262	chr22:23478139-23478140	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
28	rs529150385	chr22:23478149-23478150	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
29	rs11913733	chr22:23478150-23478151	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570427282	chr22:23478159-23478160	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
31	rs202230346	chr22:23478183-23478184	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs565622636	chr22:23478199-23478200	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
33	rs534457227	chr22:23478227-23478228	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
34	rs191653746	chr22:23478231-23478232	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
35	rs570742385	chr22:23478235-23478236	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
36	rs539669273	chr22:23478238-23478239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
37	rs114803340	chr22:23478268-23478269	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
38	rs183557392	chr22:23478302-23478303	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
39	rs542463653	chr22:23478419-23478420	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
40	rs371469666	chr22:23478422-23478423	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
41	rs572462088	chr22:23478487-23478488	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
42	rs541573587	chr22:23478528-23478529	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs140894270	chr22:23478560-23478561	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs150081863	chr22:23478678-23478679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9612240	chr22:23478695-23478696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs56022620	chr22:23478780-23478781	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs147780841	chr22:23478817-23478818	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs13054889	chr22:23478837-23478838	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549255770	chr22:23478888-23478889	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs565374531	chr22:23478934-23478935	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:206)

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
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
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
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	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
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
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23453200-23484800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:23470800-23483600	Weak transcription	Fetal Intestine Small	intestine
3	chr22:23471400-23483600	Weak transcription	Brain Anterior Caudate	brain
4	chr22:23471400-23483600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:23474400-23478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:23476200-23478400	Strong transcription	Right Atrium	heart
7	chr22:23476200-23479600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr22:23476200-23483800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr22:23476600-23478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:23476600-23483600	Weak transcription	Fetal Stomach	stomach
11	chr22:23476800-23477800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:23476800-23483800	Weak transcription	Right Ventricle	heart
13	chr22:23477000-23483800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr22:23477200-23477800	Enhancers	GM12878-XiMat	blood
15	chr22:23477800-23478000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr22:23477800-23478000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr22:23477800-23478000	Flanking Active TSS	GM12878-XiMat	blood
18	chr22:23477800-23478200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:23477800-23478400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:23477800-23478400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr22:23477800-23479000	Enhancers	Dnd41	blood
22	chr22:23477800-23479400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr22:23477800-23479600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr22:23477800-23480000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr22:23477800-23481400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr22:23477800-23481600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr22:23477800-23481800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr22:23477800-23483600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr22:23477800-23484200	Enhancers	Primary B cells from cord blood	blood
30	chr22:23477800-23485000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr22:23478000-23478200	Enhancers	GM12878-XiMat	blood
32	chr22:23478000-23478400	Bivalent Enhancer	K562	blood
33	chr22:23478000-23479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr22:23478000-23481800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr22:23478000-23484000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr22:23478200-23478400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr22:23478200-23478400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr22:23478200-23478400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr22:23478200-23478400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:23478200-23478400	Enhancers	Primary hematopoietic stem cells	blood
41	chr22:23478200-23478400	Flanking Active TSS	GM12878-XiMat	blood
42	chr22:23478200-23479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:23478200-23479800	Enhancers	Duodenum Mucosa	Duodenum
44	chr22:23478200-23481200	Enhancers	Primary T cells from cord blood	blood
45	chr22:23478200-23481400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr22:23478200-23481400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr22:23478200-23481400	Enhancers	Fetal Thymus	thymus
48	chr22:23478200-23481600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:23478200-23483600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:23478200-23483600	Enhancers	Primary B cells from peripheral blood	blood

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