Variant report

Variant	esv3456856
Chromosome Location	chr22:20347602-20507250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2526)
CpG islands
(count:1342)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2526 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr22:20359857-20360194	GM12878	blood:	n/a	n/a
2	BATF	chr22:20378615-20378824	GM12878	blood:	n/a	n/a
3	BATF	chr22:20379205-20379431	GM12878	blood:	n/a	n/a
4	BATF	chr22:20348946-20349197	GM12878	blood:	n/a	n/a
5	BATF	chr22:20355305-20355563	GM12878	blood:	n/a	n/a
6	BATF	chr22:20445015-20445218	GM12878	blood:	n/a	n/a
7	BATF	chr22:20427669-20427862	GM12878	blood:	n/a	n/a
8	BATF	chr22:20365733-20366145	GM12878	blood:	n/a	n/a
9	BATF	chr22:20378235-20378418	GM12878	blood:	n/a	n/a
10	BCL11A	chr22:20350736-20350907	GM12878	blood:	n/a	n/a
11	BCL11A	chr22:20349704-20349929	GM12878	blood:	n/a	n/a
12	BCL11A	chr22:20351272-20351516	GM12878	blood:	n/a	n/a
13	BCL11A	chr22:20365735-20366054	GM12878	blood:	n/a	n/a
14	BCL11A	chr22:20359843-20360086	GM12878	blood:	n/a	n/a
15	BCL11A	chr22:20350132-20350302	GM12878	blood:	n/a	n/a
16	BCL11A	chr22:20365860-20366118	GM12878	blood:	n/a	n/a
17	BCL11A	chr22:20359571-20360081	GM12878	blood:	n/a	n/a
18	BCL11A	chr22:20361230-20361825	GM12878	blood:	n/a	n/a
19	BCL11A	chr22:20460690-20460996	GM12878	blood:	n/a	n/a
20	BCL11A	chr22:20424439-20424711	GM12878	blood:	n/a	n/a
21	BCL11A	chr22:20360094-20360447	GM12878	blood:	n/a	n/a
22	BHLHE40	chr22:20428314-20428573	HepG2	liver:	n/a	n/a
23	BHLHE40	chr22:20420653-20421045	HepG2	liver:	n/a	chr22:20420721-20420737
24	BHLHE40	chr22:20460604-20460954	HepG2	liver:	n/a	n/a
25	BHLHE40	chr22:20378358-20378553	HepG2	liver:	n/a	n/a
26	BHLHE40	chr22:20348087-20348416	HepG2	liver:	n/a	n/a
27	BHLHE40	chr22:20362183-20362654	HepG2	liver:	n/a	n/a
28	BHLHE40	chr22:20436958-20437296	HepG2	liver:	n/a	n/a
29	BHLHE40	chr22:20378988-20379084	GM12878	blood:	n/a	n/a
30	BHLHE40	chr22:20445081-20445367	HepG2	liver:	n/a	n/a
31	CBX3	chr22:20377744-20379764	K562	blood:	n/a	n/a
32	CBX3	chr22:20441631-20442615	K562	blood:	n/a	n/a
33	CBX3	chr22:20454740-20456344	K562	blood:	n/a	n/a
34	CBX3	chr22:20460679-20461023	K562	blood:	n/a	n/a
35	CBX3	chr22:20450575-20451117	K562	blood:	n/a	n/a
36	CBX3	chr22:20423295-20424707	K562	blood:	n/a	n/a
37	CBX3	chr22:20459968-20461115	K562	blood:	n/a	n/a
38	CBX3	chr22:20424749-20427337	K562	blood:	n/a	n/a
39	CBX3	chr22:20420272-20421095	K562	blood:	n/a	n/a
40	CBX3	chr22:20444910-20445645	K562	blood:	n/a	n/a
41	CBX3	chr22:20408901-20410101	K562	blood:	n/a	n/a
42	CBX3	chr22:20420629-20421065	K562	blood:	n/a	n/a
43	CEBPB	chr22:20445369-20445569	K562	blood:	n/a	n/a
44	CEBPB	chr22:20447394-20447719	K562	blood:	n/a	n/a
45	CEBPB	chr22:20427068-20427414	K562	blood:	n/a	n/a
46	CEBPB	chr22:20437060-20437626	K562	blood:	n/a	n/a
47	CEBPB	chr22:20428597-20429008	K562	blood:	n/a	n/a
48	CEBPB	chr22:20428730-20428899	K562	blood:	n/a	n/a
49	CEBPB	chr22:20437259-20437596	K562	blood:	n/a	n/a
50	CEBPB	chr22:20462825-20463220	K562	blood:	n/a	n/a

(count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20481341-20481391	HCM	heart:	n/a
2	chr22:20464947-20464997	ovcar-3	ovarian:	n/a
3	chr22:20483668-20483718	SK-N-SH_RA	brain:	n/a
4	chr22:20484804-20484854	HRCEpiC	kidney:	n/a
5	chr22:20502597-20502647	HepG2	liver:	n/a
6	chr22:20428109-20428159	HAEpiC	amniotic membrane:	n/a
7	chr22:20423500-20423550	SKMC	muscle:	n/a
8	chr22:20381640-20381690	Hepatocyte	liver:	n/a
9	chr22:20399974-20400024	AG09309	skin:	n/a
10	chr22:20457884-20457934	SK-N-SH	brain:	n/a
11	chr22:20456706-20456756	NT2-D1	testis:	n/a
12	chr22:20432168-20432218	HCF	heart:	n/a
13	chr22:20456706-20456756	K562	blood:	n/a
14	chr22:20485872-20485922	BJ	skin:	n/a
15	chr22:20432168-20432218	AG04449	skin:	fetal
16	chr22:20456706-20456756	A549	lung:	n/a
17	chr22:20381640-20381690	AG10803	skin:	n/a
18	chr22:20462514-20462564	Hela-S3	cervix:	n/a
19	chr22:20376405-20376455	HRPEpiC	eye:	n/a
20	chr22:20423500-20423550	Hepatocyte	liver:	n/a
21	chr22:20456706-20456756	ECC-1	luminal epithelium:	n/a
22	chr22:20378953-20379003	MCF10A-Er-Src	breast:	n/a
23	chr22:20423500-20423550	ProgFib	skin:	n/a
24	chr22:20376405-20376455	IMR90	lung:	fetal
25	chr22:20484804-20484854	IMR90	lung:	fetal
26	chr22:20456706-20456756	HCM	heart:	n/a
27	chr22:20504411-20504461	PrEC	prostate:	n/a
28	chr22:20456706-20456756	SKMC	muscle:	n/a
29	chr22:20428109-20428159	PFSK-1	brain:	n/a
30	chr22:20485872-20485922	GM12892	blood:	n/a
31	chr22:20376405-20376455	HepG2	liver:	n/a
32	chr22:20376405-20376455	SK-N-MC	brain:	n/a
33	chr22:20428109-20428159	T-47D	breast:	n/a
34	chr22:20502597-20502647	LNCaP	prostate:	n/a
35	chr22:20456706-20456756	BJ	skin:	n/a
36	chr22:20384320-20384370	SK-N-MC	brain:	n/a
37	chr22:20378953-20379003	NT2-D1	testis:	n/a
38	chr22:20428109-20428159	GM12878	blood:	n/a
39	chr22:20457884-20457934	HCF	heart:	n/a
40	chr22:20428109-20428159	HEEpiC	esophagus:	n/a
41	chr22:20381640-20381690	PANC-1	pancreas:	n/a
42	chr22:20460068-20460118	AG09319	gingival:	n/a
43	chr22:20400015-20400065	ProgFib	skin:	n/a
44	chr22:20384320-20384370	Hela-S3	cervix:	n/a
45	chr22:20378953-20379003	HCF	heart:	n/a
46	chr22:20502597-20502647	Caco-2	colon:	n/a
47	chr22:20432168-20432218	H1-hESC	embryonic stem cell:	embryo
48	chr22:20378953-20379003	HRCEpiC	kidney:	n/a
49	chr22:20484804-20484854	HAEpiC	amniotic membrane:	n/a
50	chr22:20399601-20399651	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:20378583..20380116-chr22:21982503..21985257,2	K562	blood:

(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	chr22:20401139-20401184	XLOC_014158
3	lnc-AC007663.1-5	chr22:20404157-20404240	XLOC_014158
4	lnc-AC007663.1-5	chr22:20420432-20420591	XLOC_014158

No data

Variant related genes	Relation type
CA15P2	TF binding region
ENSG00000235704	TF binding region
ENSG00000206176	TF binding region
ENSG00000252024	TF binding region
ENSG00000236984	TF binding region
GGTLC3	TF binding region
RIMBP3	TF binding region
PPP1R26P2	TF binding region
ENSG00000271796	TF binding region
PI4KAP1	TF binding region
ENSG00000252571	TF binding region
RN7SKP131	TF binding region
CA15P2	CpG island
ENSG00000235704	CpG island
ENSG00000206176	CpG island
ENSG00000252024	CpG island
ENSG00000236984	CpG island
GGTLC3	CpG island
RIMBP3	CpG island
PPP1R26P2	CpG island
ENSG00000271796	CpG island
PI4KAP1	CpG island
ENSG00000252571	CpG island
RN7SKP131	CpG island
ENSG00000161179	chromatin interactions
E2F1	miRNA target sites

Extended variants
information (count: 882 )
Associated
traits (count: 240 )

Variant overlapped rSNPs/rCNVs (count:882 , 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	rs62218631	chr22:20360628-20360629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3962691	chr22:20360856-20360857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143901841	chr22:20360881-20360882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189812639	chr22:20360886-20360887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556586210	chr22:20360928-20360929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376954454	chr22:20360957-20360958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11486545	chr22:20360962-20360963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576544144	chr22:20360974-20360975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542077500	chr22:20361004-20361005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561971645	chr22:20361043-20361044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371233296	chr22:20361056-20361057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375531041	chr22:20361061-20361062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527762918	chr22:20361065-20361066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541167452	chr22:20361073-20361074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564137156	chr22:20361150-20361151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182023275	chr22:20361182-20361183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547747877	chr22:20361211-20361212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140729056	chr22:20361223-20361224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112091896	chr22:20361254-20361255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375581849	chr22:20361255-20361256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184623332	chr22:20361277-20361278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548391365	chr22:20361299-20361300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565365962	chr22:20361300-20361301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368103970	chr22:20361313-20361314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs517083	chr22:20361315-20361316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568304563	chr22:20361317-20361318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373452109	chr22:20361362-20361363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116539977	chr22:20361375-20361376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200608091	chr22:20361376-20361377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184989769	chr22:20361394-20361395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112581511	chr22:20361402-20361403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570383456	chr22:20361411-20361412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539075738	chr22:20361417-20361418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375099773	chr22:20361421-20361422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556786851	chr22:20361439-20361440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369169932	chr22:20361442-20361443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576637632	chr22:20361443-20361444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542543351	chr22:20361455-20361456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144814385	chr22:20361459-20361460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200181828	chr22:20361475-20361476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149025728	chr22:20361481-20361482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555531018	chr22:20361489-20361490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375883502	chr22:20361494-20361495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572351055	chr22:20361501-20361502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370788417	chr22:20361518-20361519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541085771	chr22:20361524-20361525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139043741	chr22:20361605-20361606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140439240	chr22:20361621-20361622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202219541	chr22:20361622-20361623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543431661	chr22:20361646-20361647	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:240)

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
Breast cancer	17142309	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Type 2 diabetes	21526130	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

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20360600-20361800	Enhancers	Fetal Muscle Trunk	muscle
2	chr22:20365600-20365800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr22:20377000-20377200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr22:20377000-20377200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:20377000-20377400	Enhancers	Dnd41	blood
6	chr22:20377400-20378000	Weak transcription	Dnd41	blood
7	chr22:20378000-20378600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr22:20378000-20378600	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr22:20378000-20379000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr22:20378000-20379000	Active TSS	Primary monocytes fromperipheralblood	blood
11	chr22:20378000-20379000	Active TSS	Primary B cells from peripheral blood	blood
12	chr22:20378000-20379000	Active TSS	Primary T cells fromperipheralblood	blood
13	chr22:20378000-20379000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:20378000-20379000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:20378000-20379000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:20378000-20379000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr22:20378000-20379000	Active TSS	Fetal Stomach	stomach
18	chr22:20378000-20379000	Active TSS	Fetal Thymus	thymus
19	chr22:20378000-20379000	Active TSS	Dnd41	blood
20	chr22:20378000-20379000	Active TSS	HepG2	liver
21	chr22:20378000-20379000	Active TSS	HMEC	breast
22	chr22:20378000-20379200	Active TSS	Brain Germinal Matrix	brain
23	chr22:20378000-20379800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:20378000-20380000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:20378200-20378600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:20378200-20378800	Active TSS	Fetal Muscle Leg	muscle
27	chr22:20378200-20379000	Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr22:20378200-20379000	Active TSS	Fetal Intestine Large	intestine
29	chr22:20378200-20379000	Active TSS	HSMM	muscle
30	chr22:20378400-20378800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:20378400-20378800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr22:20378400-20378800	Active TSS	Ovary	ovary
33	chr22:20378400-20378800	Active TSS	HSMMtube	muscle
34	chr22:20378400-20379000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr22:20378400-20379000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr22:20378400-20379000	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr22:20378400-20379000	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr22:20378400-20379000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:20378400-20379000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr22:20378400-20379000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:20378400-20379000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr22:20378400-20379000	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr22:20378400-20379000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr22:20378400-20379000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:20378400-20379000	Active TSS	Adipose Nuclei	Adipose
46	chr22:20378400-20379000	Active TSS	Brain Cingulate Gyrus	brain
47	chr22:20378400-20379000	Active TSS	Brain Hippocampus Middle	brain
48	chr22:20378400-20379000	Active TSS	Colon Smooth Muscle	Colon
49	chr22:20378400-20379000	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr22:20378400-20379000	Active TSS	Right Atrium	heart

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