Variant report

Variant	nsv1060702
Chromosome Location	chr22:21815854-21917311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1996)
CpG islands
(count:793)
Chromatin interactive
region (count:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1996 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21910418-21910628	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:21910246-21910718	K562	blood:	n/a	n/a
3	ATF1	chr22:21822456-21822596	K562	blood:	n/a	n/a
4	ATF1	chr22:21910267-21910662	K562	blood:	n/a	n/a
5	ATF3	chr22:21866127-21866289	K562	blood:	n/a	n/a
6	ATF3	chr22:21910129-21910721	K562	blood:	n/a	n/a
7	ATF3	chr22:21910162-21910876	K562	blood:	n/a	n/a
8	BACH1	chr22:21910262-21910699	K562	blood:	n/a	n/a
9	BATF	chr22:21888942-21889159	GM12878	blood:	n/a	n/a
10	BATF	chr22:21822965-21823191	GM12878	blood:	n/a	n/a
11	BATF	chr22:21822372-21822581	GM12878	blood:	n/a	n/a
12	BATF	chr22:21871643-21871836	GM12878	blood:	n/a	n/a
13	BCL11A	chr22:21888998-21889271	GM12878	blood:	n/a	n/a
14	BCL11A	chr22:21868416-21868688	GM12878	blood:	n/a	n/a
15	BCL11A	chr22:21904654-21904960	GM12878	blood:	n/a	n/a
16	BCL3	chr22:21910210-21910678	A549	lung:	n/a	n/a
17	BHLHE40	chr22:21904568-21904918	HepG2	liver:	n/a	n/a
18	BHLHE40	chr22:21864628-21865020	HepG2	liver:	n/a	chr22:21864696-21864712
19	BHLHE40	chr22:21822115-21822324	HepG2	liver:	n/a	n/a
20	BHLHE40	chr22:21889022-21889308	HepG2	liver:	n/a	n/a
21	BHLHE40	chr22:21910291-21910722	K562	blood:	n/a	n/a
22	BHLHE40	chr22:21872293-21872552	HepG2	liver:	n/a	n/a
23	BHLHE40	chr22:21880932-21881265	HepG2	liver:	n/a	n/a
24	CBX3	chr22:21894581-21895053	K562	blood:	n/a	n/a
25	CBX3	chr22:21903838-21905213	K562	blood:	n/a	n/a
26	CBX3	chr22:21894438-21895066	K562	blood:	n/a	n/a
27	CBX3	chr22:21885463-21886801	K562	blood:	n/a	n/a
28	CBX3	chr22:21867672-21871343	K562	blood:	n/a	n/a
29	CBX3	chr22:21850651-21851342	K562	blood:	n/a	n/a
30	CBX3	chr22:21864312-21865352	K562	blood:	n/a	n/a
31	CBX3	chr22:21898573-21899810	K562	blood:	n/a	n/a
32	CBX3	chr22:21871657-21872930	K562	blood:	n/a	n/a
33	CBX3	chr22:21910176-21910813	HCT-116	colon:	n/a	n/a
34	CBX3	chr22:21910069-21911201	K562	blood:	n/a	n/a
35	CBX3	chr22:21888819-21889586	K562	blood:	n/a	n/a
36	CBX3	chr22:21821351-21823531	K562	blood:	n/a	n/a
37	CCNT2	chr22:21910288-21910581	K562	blood:	n/a	n/a
38	CEBPB	chr22:21910187-21910689	MCF-7	breast:	n/a	n/a
39	CEBPB	chr22:21910184-21910983	K562	blood:	n/a	n/a
40	CEBPB	chr22:21881077-21881692	K562	blood:	n/a	n/a
41	CEBPB	chr22:21906821-21907131	K562	blood:	n/a	n/a
42	CEBPB	chr22:21862203-21862460	K562	blood:	n/a	n/a
43	CEBPB	chr22:21885883-21886127	K562	blood:	n/a	n/a
44	CEBPB	chr22:21881166-21881539	K562	blood:	n/a	n/a
45	CEBPB	chr22:21872463-21872997	K562	blood:	n/a	n/a
46	CEBPB	chr22:21862735-21863114	K562	blood:	n/a	n/a
47	CEBPB	chr22:21910315-21910989	K562	blood:	n/a	n/a
48	CEBPB	chr22:21888917-21889544	K562	blood:	n/a	n/a
49	CEBPB	chr22:21910261-21910925	IMR90	lung:	n/a	n/a
50	CEBPB	chr22:21835523-21835834	K562	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21871914-21871964	SKMC	muscle:	n/a
2	chr22:21871564-21871614	GM06990	blood:	n/a
3	chr22:21871564-21871614	HMEC	breast:	n/a
4	chr22:21871914-21871964	NHBE	bronchial:	n/a
5	chr22:21906477-21906527	SK-N-SH_RA	brain:	n/a
6	chr22:21823558-21823608	HAEpiC	amniotic membrane:	n/a
7	chr22:21906477-21906527	NT2-D1	testis:	n/a
8	chr22:21906477-21906527	NHDF-neo	bronchial:	n/a
9	chr22:21822779-21822829	LNCaP	prostate:	n/a
10	chr22:21871920-21871970	BJ	skin:	n/a
11	chr22:21821976-21822026	AoSMC	blood vessel:	n/a
12	chr22:21821976-21822026	HEEpiC	esophagus:	n/a
13	chr22:21871914-21871964	HRE	kidney:	n/a
14	chr22:21821976-21822026	HEK293	kidney:	embryo
15	chr22:21906477-21906527	HepG2	liver:	n/a
16	chr22:21825384-21825434	SK-N-SH	brain:	n/a
17	chr22:21825384-21825434	HepG2	liver:	n/a
18	chr22:21871914-21871964	HUVEC	blood vessel:	n/a
19	chr22:21820215-21820265	PANC-1	pancreas:	n/a
20	chr22:21823558-21823608	ovcar-3	ovarian:	n/a
21	chr22:21871564-21871614	GM12892	blood:	n/a
22	chr22:21867049-21867099	SK-N-MC	brain:	n/a
23	chr22:21823558-21823608	GM12892	blood:	n/a
24	chr22:21871564-21871614	AG09319	gingival:	n/a
25	chr22:21822779-21822829	AoSMC	blood vessel:	n/a
26	chr22:21871914-21871964	MCF-7	breast:	n/a
27	chr22:21823558-21823608	H1-hESC	embryonic stem cell:	embryo
28	chr22:21823558-21823608	HUVEC	blood vessel:	n/a
29	chr22:21822289-21822339	NHBE	bronchial:	n/a
30	chr22:21822289-21822339	HAEpiC	amniotic membrane:	n/a
31	chr22:21906477-21906527	IMR90	lung:	fetal
32	chr22:21820215-21820265	ProgFib	skin:	n/a
33	chr22:21871914-21871964	HIPEpiC	eye:	n/a
34	chr22:21871920-21871970	GM06990	blood:	n/a
35	chr22:21825384-21825434	MCF-7	breast:	n/a
36	chr22:21871914-21871964	AG09319	gingival:	n/a
37	chr22:21871920-21871970	T-47D	breast:	n/a
38	chr22:21871920-21871970	H1-hESC	embryonic stem cell:	embryo
39	chr22:21820215-21820265	AG10803	skin:	n/a
40	chr22:21823558-21823608	PFSK-1	brain:	n/a
41	chr22:21821976-21822026	PrEC	prostate:	n/a
42	chr22:21906477-21906527	SK-N-MC	brain:	n/a
43	chr22:21817930-21817980	HL-60	blood:	n/a
44	chr22:21825384-21825434	AG04450	lung:	fetal
45	chr22:21871914-21871964	U87	brain:	n/a
46	chr22:21822289-21822339	HCM	heart:	n/a
47	chr22:21906477-21906527	K562	blood:	n/a
48	chr22:21825384-21825434	AoSMC	blood vessel:	n/a
49	chr22:21823579-21823629	AG10803	skin:	n/a
50	chr22:21867049-21867099	NHBE	bronchial:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21910278..21913507-chr22:21994549..21997856,3	K562	blood:
2	chr22:21910242..21911830-chr22:21925513..21928236,2	K562	blood:
3	chr22:21821085..21824065-chr22:21983565..21985249,2	K562	blood:
4	chr22:21910454..21912029-chr22:22004763..22007007,2	MCF-7	breast:
5	chr22:21908736..21910357-chr22:21980107..21982427,2	K562	blood:
6	chr22:21821074..21822903-chr22:21982952..21985553,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIC2-1	chr22:21820783-21821265	ENSG00000206140
2	lnc-RIMBP3C-2	chr22:21846265-21846383	NONHSAT083686
3	lnc-RIMBP3C-2	chr22:21868423-21868512	NONHSAT083686
4	lnc-RIMBP3C-1	chr22:21899633-21899933	NONHSAT083690

No data

Variant related genes	Relation type
RN7SKP221	TF binding region
ENSG00000252799	TF binding region
UBE2L3	TF binding region
ENSG00000252143	TF binding region
TMEM191C	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
TMEM191C	CpG island
ENSG00000252605	CpG island
RIMBP3C	CpG island
PI4KAP2	CpG island
ENSG00000161179	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000273342	chromatin interactions

Extended variants
information (count: 1041 )
Associated
traits (count: 226 )

Variant overlapped rSNPs/rCNVs (count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs464161	chr22:21815928-21815929	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs531080552	chr22:21816027-21816028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200037568	chr22:21816129-21816130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546193774	chr22:21816595-21816596	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs562487367	chr22:21816866-21816867	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531233699	chr22:21816926-21816927	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs541520877	chr22:21816959-21816960	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs561488085	chr22:21816968-21816969	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs9606928	chr22:21817784-21817785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9609480	chr22:21817791-21817792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546273339	chr22:21817912-21817913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111897790	chr22:21818027-21818028	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs547144929	chr22:21818407-21818408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574957795	chr22:21818468-21818469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191068539	chr22:21818478-21818479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76904254	chr22:21818481-21818482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28673540	chr22:21818754-21818755	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs367665303	chr22:21818755-21818756	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs569217931	chr22:21818812-21818813	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs538291566	chr22:21818887-21818888	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs111450340	chr22:21819121-21819122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555009902	chr22:21819271-21819272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568517503	chr22:21819272-21819273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534308660	chr22:21819281-21819282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554306982	chr22:21819286-21819287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577398238	chr22:21819294-21819295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546453273	chr22:21819301-21819302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368874770	chr22:21819308-21819309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556630616	chr22:21819345-21819346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575623373	chr22:21819370-21819371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541384094	chr22:21819389-21819390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561351303	chr22:21819394-21819395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571782232	chr22:21819435-21819436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71317886	chr22:21819437-21819438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530600921	chr22:21819439-21819440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564293532	chr22:21819451-21819452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533010379	chr22:21819472-21819473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375181940	chr22:21819502-21819503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74345854	chr22:21819510-21819511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9798734	chr22:21819514-21819515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201063613	chr22:21819531-21819532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61251991	chr22:21819552-21819553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1210233	chr22:21819592-21819593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563532076	chr22:21819667-21819668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529202967	chr22:21819829-21819830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147974345	chr22:21819844-21819845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548572704	chr22:21819903-21819904	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs568478355	chr22:21819932-21819933	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186095638	chr22:21819992-21819993	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs534270224	chr22:21819996-21819997	Weak transcription	TF binding region	1 gene(s)	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
Breast cancer	22522925	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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21802400-21822400	Weak transcription	Lung	lung
2	chr22:21803600-21836000	Weak transcription	Fetal Intestine Large	intestine
3	chr22:21804200-21835200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:21805000-21822400	Weak transcription	Brain Germinal Matrix	brain
5	chr22:21806400-21822400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr22:21806400-21836000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:21811000-21822400	Weak transcription	Fetal Intestine Small	intestine
8	chr22:21811000-21822400	Weak transcription	Fetal Stomach	stomach
9	chr22:21811200-21822400	Weak transcription	Right Atrium	heart
10	chr22:21811600-21816600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:21812000-21828800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:21822400-21822600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:21822400-21822600	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr22:21822400-21822600	Flanking Active TSS	Colonic Mucosa	Colon
15	chr22:21822400-21822600	Active TSS	Fetal Muscle Leg	muscle
16	chr22:21822400-21822800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr22:21822400-21822800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:21822400-21822800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:21822400-21822800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:21822400-21822800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr22:21822400-21822800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr22:21822400-21822800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr22:21822400-21822800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr22:21822400-21822800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr22:21822400-21822800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr22:21822400-21822800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:21822400-21822800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:21822400-21822800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr22:21822400-21822800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:21822400-21822800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:21822400-21822800	Active TSS	Primary monocytes fromperipheralblood	blood
32	chr22:21822400-21822800	Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr22:21822400-21822800	Active TSS	Primary B cells from peripheral blood	blood
34	chr22:21822400-21822800	Active TSS	Primary T cells fromperipheralblood	blood
35	chr22:21822400-21822800	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr22:21822400-21822800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr22:21822400-21822800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr22:21822400-21822800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:21822400-21822800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:21822400-21822800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:21822400-21822800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:21822400-21822800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr22:21822400-21822800	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr22:21822400-21822800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr22:21822400-21822800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:21822400-21822800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr22:21822400-21822800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr22:21822400-21822800	Active TSS	Adipose Nuclei	Adipose
49	chr22:21822400-21822800	Active TSS	Aorta	Aorta
50	chr22:21822400-21822800	Active TSS	Liver	Liver

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