Variant report

Variant	esv1810487
Chromosome Location	chr22:20390863-20613311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1451)
CpG islands
(count:1039)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1451 , 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	BATF	chr22:20445015-20445218	GM12878	blood:	n/a	n/a
2	BATF	chr22:20427669-20427862	GM12878	blood:	n/a	n/a
3	BCL11A	chr22:20460690-20460996	GM12878	blood:	n/a	n/a
4	BCL11A	chr22:20424439-20424711	GM12878	blood:	n/a	n/a
5	BHLHE40	chr22:20420653-20421045	HepG2	liver:	n/a	chr22:20420721-20420737
6	BHLHE40	chr22:20436958-20437296	HepG2	liver:	n/a	n/a
7	BHLHE40	chr22:20428314-20428573	HepG2	liver:	n/a	n/a
8	BHLHE40	chr22:20460604-20460954	HepG2	liver:	n/a	n/a
9	BHLHE40	chr22:20445081-20445367	HepG2	liver:	n/a	n/a
10	CBX3	chr22:20454740-20456344	K562	blood:	n/a	n/a
11	CBX3	chr22:20441631-20442615	K562	blood:	n/a	n/a
12	CBX3	chr22:20408901-20410101	K562	blood:	n/a	n/a
13	CBX3	chr22:20420272-20421095	K562	blood:	n/a	n/a
14	CBX3	chr22:20444910-20445645	K562	blood:	n/a	n/a
15	CBX3	chr22:20423295-20424707	K562	blood:	n/a	n/a
16	CBX3	chr22:20450575-20451117	K562	blood:	n/a	n/a
17	CBX3	chr22:20424749-20427337	K562	blood:	n/a	n/a
18	CBX3	chr22:20420629-20421065	K562	blood:	n/a	n/a
19	CBX3	chr22:20460679-20461023	K562	blood:	n/a	n/a
20	CBX3	chr22:20459968-20461115	K562	blood:	n/a	n/a
21	CEBPB	chr22:20445369-20445569	K562	blood:	n/a	n/a
22	CEBPB	chr22:20447394-20447719	K562	blood:	n/a	n/a
23	CEBPB	chr22:20428597-20429008	K562	blood:	n/a	n/a
24	CEBPB	chr22:20418225-20418487	K562	blood:	n/a	n/a
25	CEBPB	chr22:20445011-20445575	K562	blood:	n/a	n/a
26	CEBPB	chr22:20420603-20421116	K562	blood:	n/a	chr22:20420901-20420912
27	CEBPB	chr22:20407773-20408094	K562	blood:	n/a	n/a
28	CEBPB	chr22:20437259-20437596	K562	blood:	n/a	n/a
29	CEBPB	chr22:20427068-20427414	K562	blood:	n/a	n/a
30	CEBPB	chr22:20418866-20419026	HepG2	liver:	n/a	n/a
31	CEBPB	chr22:20417912-20418536	K562	blood:	n/a	n/a
32	CEBPB	chr22:20462825-20463220	K562	blood:	n/a	n/a
33	CEBPB	chr22:20441660-20442283	K562	blood:	n/a	n/a
34	CEBPB	chr22:20437060-20437626	K562	blood:	n/a	n/a
35	CEBPB	chr22:20428730-20428899	K562	blood:	n/a	n/a
36	CEBPD	chr22:20441629-20442366	K562	blood:	n/a	n/a
37	CEBPD	chr22:20427674-20428046	K562	blood:	n/a	n/a
38	CEBPD	chr22:20407743-20408227	K562	blood:	n/a	n/a
39	CEBPD	chr22:20418246-20418607	K562	blood:	n/a	n/a
40	CEBPD	chr22:20426520-20427025	K562	blood:	n/a	n/a
41	CEBPD	chr22:20444985-20445622	K562	blood:	n/a	n/a
42	CEBPD	chr22:20427039-20427449	K562	blood:	n/a	n/a
43	CEBPD	chr22:20420620-20421076	K562	blood:	n/a	n/a
44	CEBPD	chr22:20437199-20437678	K562	blood:	n/a	n/a
45	CTCF	chr22:20445064-20445319	Lung_OC	lung:	n/a	chr22:20445160-20445181 chr22:20445171-20445180 chr22:20445167-20445180 chr22:20445165-20445183 chr22:20445166-20445182
46	CTCF	chr22:20424589-20424592	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chr22:20442080-20442230	HRE	kidney:	n/a	chr22:20442083-20442096
48	CTCF	chr22:20445020-20445170	GM12878	blood:	n/a	n/a
49	CTCF	chr22:20441745-20442295	K562	blood:	n/a	chr22:20441967-20441980 chr22:20442083-20442096 chr22:20442019-20442037
50	CTCF	chr22:20450780-20451044	A549	lung:	n/a	n/a

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20400015-20400065	AoSMC	blood vessel:	n/a
2	chr22:20456706-20456756	HRPEpiC	eye:	n/a
3	chr22:20400015-20400065	AoSMC	blood vessel:	n/a
4	chr22:20456706-20456756	HRPEpiC	eye:	n/a
5	chr22:20432168-20432218	K562	blood:	n/a
6	chr22:20428109-20428159	PrEC	prostate:	n/a
7	chr22:20504411-20504461	HRCEpiC	kidney:	n/a
8	chr22:20484804-20484854	MCF10A-Er-Src	breast:	n/a
9	chr22:20399974-20400024	AG04449	skin:	fetal
10	chr22:20423500-20423550	T-47D	breast:	n/a
11	chr22:20400015-20400065	H1-hESC	embryonic stem cell:	embryo
12	chr22:20399601-20399651	ProgFib	skin:	n/a
13	chr22:20399601-20399651	HCT-116	colon:	n/a
14	chr22:20399974-20400024	GM12878	blood:	n/a
15	chr22:20483668-20483718	Hepatocyte	liver:	n/a
16	chr22:20502597-20502647	AG09309	skin:	n/a
17	chr22:20460068-20460118	HCPEpiC	choroid plexus:	n/a
18	chr22:20460068-20460118	A549	lung:	n/a
19	chr22:20485872-20485922	SK-N-SH_RA	brain:	n/a
20	chr22:20483668-20483718	HEEpiC	esophagus:	n/a
21	chr22:20462514-20462564	AG04449	skin:	fetal
22	chr22:20399601-20399651	GM06990	blood:	n/a
23	chr22:20460068-20460118	HRCEpiC	kidney:	n/a
24	chr22:20483668-20483718	Hela-S3	cervix:	n/a
25	chr22:20502597-20502647	AG04450	lung:	fetal
26	chr22:20457884-20457934	Caco-2	colon:	n/a
27	chr22:20432168-20432218	Hepatocyte	liver:	n/a
28	chr22:20504411-20504461	HepG2	liver:	n/a
29	chr22:20483668-20483718	Jurkat	blood:	n/a
30	chr22:20481341-20481391	AoSMC	blood vessel:	n/a
31	chr22:20399974-20400024	NHBE	bronchial:	n/a
32	chr22:20428109-20428159	HIPEpiC	eye:	n/a
33	chr22:20457884-20457934	HEEpiC	esophagus:	n/a
34	chr22:20400015-20400065	RPTEC	kidney:	n/a
35	chr22:20400015-20400065	Hepatocyte	liver:	n/a
36	chr22:20400015-20400065	NHDF-neo	bronchial:	n/a
37	chr22:20428109-20428159	PANC-1	pancreas:	n/a
38	chr22:20423500-20423550	SK-N-SH_RA	brain:	n/a
39	chr22:20456706-20456756	NHDF-neo	bronchial:	n/a
40	chr22:20483668-20483718	SK-N-SH_RA	brain:	n/a
41	chr22:20484804-20484854	AG09319	gingival:	n/a
42	chr22:20423500-20423550	NT2-D1	testis:	n/a
43	chr22:20462514-20462564	HepG2	liver:	n/a
44	chr22:20456706-20456756	HMEC	breast:	n/a
45	chr22:20504411-20504461	LNCaP	prostate:	n/a
46	chr22:20460068-20460118	GM12891	blood:	n/a
47	chr22:20432168-20432218	GM12878	blood:	n/a
48	chr22:20399974-20400024	SAEC	small airway:	n/a
49	chr22:20428109-20428159	ECC-1	luminal epithelium:	n/a
50	chr22:20460068-20460118	HPAEpiC	pulmonary alveolar:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIMBP3-1	chr22:20455669-20455969	NONHSAT083514
2	lnc-AC007663.1-5	chr22:20420432-20420591	XLOC_014158
3	lnc-AC007663.1-5	chr22:20401139-20401184	XLOC_014158
4	lnc-AC007663.1-5	chr22:20404157-20404240	XLOC_014158

No data

Variant related genes	Relation type
CA15P2	TF binding region
ENSG00000252024	TF binding region
ENSG00000236984	TF binding region
RIMBP3	TF binding region
PPP1R26P2	TF binding region
ENSG00000271796	TF binding region
ENSG00000216522	TF binding region
PI4KAP1	TF binding region
ENSG00000252571	TF binding region
RN7SKP131	TF binding region
CA15P2	CpG island
ENSG00000252024	CpG island
ENSG00000236984	CpG island
RIMBP3	CpG island
PPP1R26P2	CpG island
ENSG00000271796	CpG island
ENSG00000216522	CpG island
PI4KAP1	CpG island
ENSG00000252571	CpG island
RN7SKP131	CpG island
E2F1	miRNA target sites

Extended variants
information (count: 553 )
Associated
traits (count: 239 )

Variant overlapped rSNPs/rCNVs (count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5753740	chr22:20390863-20390864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9609563	chr22:20390904-20390905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536778745	chr22:20390984-20390985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs461860	chr22:20391062-20391063	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs186020229	chr22:20391127-20391128	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2450090	chr22:20391136-20391137	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs566800690	chr22:20391184-20391185	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2845528	chr22:20391378-20391379	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs534872361	chr22:20391761-20391762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2629356	chr22:20391788-20391789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368447327	chr22:20391847-20391848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536828047	chr22:20391872-20391873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190089342	chr22:20391891-20391892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2629357	chr22:20391937-20391938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542401153	chr22:20391952-20391953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1967050	chr22:20392045-20392046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2629359	chr22:20392079-20392080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559253955	chr22:20392102-20392103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62218653	chr22:20392663-20392664	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs572757476	chr22:20392668-20392669	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs545650987	chr22:20392984-20392985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543992948	chr22:20393004-20393005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112162743	chr22:20393020-20393021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565601761	chr22:20393035-20393036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532970261	chr22:20393138-20393139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375588630	chr22:20393204-20393205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551183393	chr22:20393215-20393216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561507499	chr22:20393238-20393239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368112394	chr22:20393275-20393276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372014317	chr22:20393279-20393280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566818644	chr22:20393281-20393282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375966002	chr22:20393297-20393298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552567832	chr22:20393335-20393336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571192299	chr22:20393352-20393353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536988570	chr22:20393396-20393397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556731641	chr22:20393413-20393414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369000751	chr22:20393475-20393476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536302329	chr22:20393566-20393567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62218654	chr22:20393585-20393586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572770390	chr22:20393616-20393617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544659900	chr22:20393654-20393655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558622269	chr22:20393701-20393702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2845534	chr22:20393783-20393784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575999723	chr22:20393787-20393788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113877305	chr22:20393818-20393819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544968151	chr22:20393881-20393882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561421497	chr22:20393919-20393920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530242241	chr22:20393923-20393924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3016139	chr22:20394006-20394007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553295442	chr22:20394029-20394030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:239)

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	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Gastric cancer	22591714	CNVD
Autism	22958593	CNVD
Digeorge syndrome	16199537	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22241247	CNVD
Autism	22241247	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	18628472	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian neoplasms	16753589	CNVD
Schizophrenia	21399695	CNVD
22q11.21 microdeletion syndrome	19193630	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
Acute lymphoblastic leukemia	20435627	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
Esophageal cancer	21851588	CNVD
22q11.2 deletion syndrome	22563040	CNVD
cardiac septal defect	19239688	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
Urothelial carcinoma	21177765	CNVD
Developmental delay	21147756	CNVD
Type 2 diabetes	21526130	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Cancer	20164920	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20378400-20393400	Weak transcription	Fetal Intestine Small	intestine
2	chr22:20378600-20395600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:20378600-20398400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:20378600-20400600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:20379000-20391600	Weak transcription	Fetal Thymus	thymus
6	chr22:20379000-20393000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr22:20379000-20398000	Weak transcription	Dnd41	blood
8	chr22:20379000-20399800	Weak transcription	Fetal Intestine Large	intestine
9	chr22:20379000-20401200	Weak transcription	Adipose Nuclei	Adipose
10	chr22:20379000-20401400	Weak transcription	K562	blood
11	chr22:20379000-20404000	Weak transcription	Fetal Muscle Leg	muscle
12	chr22:20379000-20404200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr22:20379800-20395600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:20380200-20402400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:20381600-20402400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:20383000-20399800	Weak transcription	HepG2	liver
17	chr22:20385000-20395400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:20385400-20391600	Weak transcription	Lung	lung
19	chr22:20386000-20401000	Weak transcription	Fetal Stomach	stomach
20	chr22:20390000-20395200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:20390200-20399800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr22:20390200-20409000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:20390800-20392400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:20390800-20402600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr22:20392400-20392800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:20392800-20402200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:20393400-20394200	Strong transcription	Fetal Intestine Small	intestine
28	chr22:20394200-20399600	Weak transcription	Fetal Intestine Small	intestine
29	chr22:20398400-20398600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr22:20399600-20402000	Strong transcription	Fetal Intestine Small	intestine
31	chr22:20399800-20400000	Enhancers	Fetal Intestine Large	intestine
32	chr22:20399800-20400200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr22:20399800-20401000	Enhancers	HepG2	liver
34	chr22:20400000-20400200	Weak transcription	Fetal Intestine Large	intestine
35	chr22:20400200-20406400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr22:20401000-20401800	Strong transcription	Fetal Stomach	stomach
37	chr22:20401400-20401600	Enhancers	K562	blood
38	chr22:20401800-20403400	Weak transcription	Fetal Stomach	stomach
39	chr22:20402000-20404200	Weak transcription	Fetal Intestine Small	intestine
40	chr22:20402200-20402800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:20402400-20402800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr22:20402400-20402800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:20402800-20406200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:20404000-20404200	Enhancers	Fetal Muscle Leg	muscle
45	chr22:20404200-20404400	Enhancers	Stomach Smooth Muscle	stomach
46	chr22:20406200-20406400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:20406400-20406600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr22:20409200-20409400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:20420400-20420800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr22:20420400-20421200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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