Variant report

Variant	nsv966082
Chromosome Location	chr22:21898928-21918777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:374)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr22:21910267-21910662	K562	blood:	n/a	n/a
4	ATF3	chr22:21910129-21910721	K562	blood:	n/a	n/a
5	ATF3	chr22:21910162-21910876	K562	blood:	n/a	n/a
6	BACH1	chr22:21910262-21910699	K562	blood:	n/a	n/a
7	BCL11A	chr22:21904654-21904960	GM12878	blood:	n/a	n/a
8	BCL3	chr22:21910210-21910678	A549	lung:	n/a	n/a
9	BHLHE40	chr22:21904568-21904918	HepG2	liver:	n/a	n/a
10	BHLHE40	chr22:21910291-21910722	K562	blood:	n/a	n/a
11	CBX3	chr22:21910069-21911201	K562	blood:	n/a	n/a
12	CBX3	chr22:21898573-21899810	K562	blood:	n/a	n/a
13	CBX3	chr22:21903838-21905213	K562	blood:	n/a	n/a
14	CBX3	chr22:21910176-21910813	HCT-116	colon:	n/a	n/a
15	CBX3	chr22:21918345-21919074	K562	blood:	n/a	n/a
16	CCNT2	chr22:21910288-21910581	K562	blood:	n/a	n/a
17	CEBPB	chr22:21910268-21910716	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr22:21906821-21907131	K562	blood:	n/a	n/a
19	CEBPB	chr22:21910305-21910988	A549	lung:	n/a	n/a
20	CEBPB	chr22:21910187-21910689	MCF-7	breast:	n/a	n/a
21	CEBPB	chr22:21898692-21899256	K562	blood:	n/a	n/a
22	CEBPB	chr22:21910315-21910989	K562	blood:	n/a	n/a
23	CEBPB	chr22:21910794-21910832	HepG2	liver:	n/a	n/a
24	CEBPB	chr22:21910261-21910925	IMR90	lung:	n/a	n/a
25	CEBPB	chr22:21910184-21910983	K562	blood:	n/a	n/a
26	CEBPB	chr22:21906116-21906664	K562	blood:	n/a	n/a
27	CEBPB	chr22:21906420-21906649	K562	blood:	n/a	n/a
28	CEBPD	chr22:21898701-21899119	K562	blood:	n/a	n/a
29	CEBPD	chr22:21906282-21906729	K562	blood:	n/a	n/a
30	CHD2	chr22:21910403-21910603	K562	blood:	n/a	n/a
31	CHD2	chr22:21910260-21910680	Hela-S3	cervix:	n/a	n/a
32	CREB1	chr22:21910230-21910616	A549	lung:	n/a	n/a
33	CTCF	chr22:21904601-21904959	A549	lung:	n/a	n/a
34	CTCF	chr22:21904297-21905469	K562	blood:	n/a	chr22:21905360-21905369 chr22:21905354-21905372 chr22:21905357-21905367 chr22:21905355-21905371 chr22:21905356-21905369 chr22:21905406-21905419
35	CTCF	chr22:21904641-21904993	GM10266	blood:	n/a	n/a
36	CTCF	chr22:21910340-21910490	SAEC	small airway:	n/a	n/a
37	CTCF	chr22:21904690-21904965	Medullo	brain:	n/a	n/a
38	CTCF	chr22:21905316-21905421	GM10248	blood:	n/a	chr22:21905360-21905369 chr22:21905354-21905372 chr22:21905357-21905367 chr22:21905355-21905371 chr22:21905356-21905369 chr22:21905406-21905419
39	CTCF	chr22:21905120-21905190	GM10248	blood:	n/a	n/a
40	CTCF	chr22:21904590-21905000	A549	lung:	n/a	n/a
41	CTCF	chr22:21904632-21904970	LNCaP	prostate:	n/a	n/a
42	CTCF	chr22:21904643-21904925	GM10248	blood:	n/a	n/a
43	CTCF	chr22:21904536-21905069	A549	lung:	n/a	n/a
44	CTCF	chr22:21903758-21905563	K562	blood:	n/a	chr22:21905360-21905369 chr22:21905354-21905372 chr22:21905357-21905367 chr22:21905355-21905371 chr22:21905356-21905369 chr22:21905406-21905419
45	CTCF	chr22:21905329-21905405	LNCaP	prostate:	n/a	chr22:21905360-21905369 chr22:21905354-21905372 chr22:21905357-21905367 chr22:21905355-21905371 chr22:21905356-21905369
46	CTCF	chr22:21904673-21904871	GM13976	blood:	n/a	n/a
47	CTCF	chr22:21904573-21904898	Lung_OC	lung:	n/a	n/a
48	CTCF	chr22:21905334-21905433	GM10266	blood:	n/a	chr22:21905360-21905369 chr22:21905354-21905372 chr22:21905357-21905367 chr22:21905355-21905371 chr22:21905356-21905369 chr22:21905406-21905419
49	CTCF	chr22:21903366-21903500	LNCaP	prostate:	n/a	n/a
50	CTCF	chr22:21905104-21905271	LNCaP	prostate:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21906477-21906527	AG04449	skin:	fetal
2	chr22:21906477-21906527	AG09319	gingival:	n/a
3	chr22:21906477-21906527	Hepatocyte	liver:	n/a
4	chr22:21906477-21906527	IMR90	lung:	fetal
5	chr22:21906477-21906527	H1-hESC	embryonic stem cell:	embryo
6	chr22:21906477-21906527	HRE	kidney:	n/a
7	chr22:21906477-21906527	HCF	heart:	n/a
8	chr22:21906477-21906527	BJ	skin:	n/a
9	chr22:21906477-21906527	K562	blood:	n/a
10	chr22:21906477-21906527	HCPEpiC	choroid plexus:	n/a
11	chr22:21906477-21906527	MCF10A-Er-Src	breast:	n/a
12	chr22:21906477-21906527	GM12891	blood:	n/a
13	chr22:21906477-21906527	Caco-2	colon:	n/a
14	chr22:21906477-21906527	T-47D	breast:	n/a
15	chr22:21906477-21906527	HUVEC	blood vessel:	n/a
16	chr22:21906477-21906527	HIPEpiC	eye:	n/a
17	chr22:21906477-21906527	HepG2	liver:	n/a
18	chr22:21906477-21906527	HL-60	blood:	n/a
19	chr22:21906477-21906527	NH-A	brain:	n/a
20	chr22:21906477-21906527	HCT-116	colon:	n/a
21	chr22:21906477-21906527	PANC-1	pancreas:	n/a
22	chr22:21906477-21906527	HNPCEpiC	eye:	n/a
23	chr22:21906477-21906527	NHDF-neo	bronchial:	n/a
24	chr22:21906477-21906527	MCF-7	breast:	n/a
25	chr22:21906477-21906527	Jurkat	blood:	n/a
26	chr22:21906477-21906527	ECC-1	luminal epithelium:	n/a
27	chr22:21906477-21906527	HPAEpiC	pulmonary alveolar:	n/a
28	chr22:21906477-21906527	AG04450	lung:	fetal
29	chr22:21906477-21906527	HEK293	kidney:	embryo
30	chr22:21906477-21906527	AG09309	skin:	n/a
31	chr22:21906477-21906527	ProgFib	skin:	n/a
32	chr22:21906477-21906527	AoSMC	blood vessel:	n/a
33	chr22:21906477-21906527	SK-N-SH_RA	brain:	n/a
34	chr22:21906477-21906527	HRPEpiC	eye:	n/a
35	chr22:21906477-21906527	BE2_C	brain:	n/a
36	chr22:21906477-21906527	HCM	heart:	n/a
37	chr22:21906477-21906527	HEEpiC	esophagus:	n/a
38	chr22:21906477-21906527	A549	lung:	n/a
39	chr22:21906477-21906527	PrEC	prostate:	n/a
40	chr22:21906477-21906527	SK-N-SH	brain:	n/a
41	chr22:21906477-21906527	U87	brain:	n/a
42	chr22:21906477-21906527	NHBE	bronchial:	n/a
43	chr22:21906477-21906527	NB4	blood:	n/a
44	chr22:21906477-21906527	GM06990	blood:	n/a
45	chr22:21906477-21906527	GM12892	blood:	n/a
46	chr22:21906477-21906527	AG10803	skin:	n/a
47	chr22:21906477-21906527	NT2-D1	testis:	n/a
48	chr22:21906477-21906527	ovcar-3	ovarian:	n/a
49	chr22:21906477-21906527	GM19239	blood:	n/a
50	chr22:21906477-21906527	SAEC	small airway:	n/a

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

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIMBP3C-1	chr22:21899633-21899933	NONHSAT083690

No data

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

Extended variants
information (count: 444 )
Associated
traits (count: 225 )

Variant overlapped rSNPs/rCNVs (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200177142	chr22:21899053-21899054	Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
2	rs554432037	chr22:21899063-21899064	Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
3	rs569469452	chr22:21899077-21899078	Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
4	rs538147666	chr22:21899234-21899235	Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs9609711	chr22:21899357-21899358	Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs9609712	chr22:21899358-21899359	Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs201107952	chr22:21899537-21899538	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs202079255	chr22:21899562-21899563	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs555289376	chr22:21899563-21899564	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200234327	chr22:21899677-21899678	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs568415991	chr22:21899819-21899820	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs533512508	chr22:21899844-21899845	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs553374656	chr22:21899897-21899898	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs576508803	chr22:21900105-21900106	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs7926	chr22:21900192-21900193	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs556078378	chr22:21900219-21900220	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs576236666	chr22:21900246-21900247	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs541665393	chr22:21900284-21900285	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs9621645	chr22:21900463-21900464	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs484252	chr22:21900617-21900618	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs561924913	chr22:21900671-21900672	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs201052475	chr22:21900729-21900730	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs1610467	chr22:21901024-21901025	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs364215	chr22:21901168-21901169	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs2242314	chr22:21901347-21901348	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs556434496	chr22:21906250-21906251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs372098837	chr22:21906282-21906283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2845511	chr22:21906437-21906438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs572385159	chr22:21906444-21906445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs375623486	chr22:21906462-21906463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs540602541	chr22:21906466-21906467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs560497127	chr22:21906475-21906476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs532484714	chr22:21906505-21906506	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs200855787	chr22:21906519-21906520	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs552679411	chr22:21906520-21906521	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs562936043	chr22:21906533-21906534	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531885672	chr22:21906539-21906540	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs548514869	chr22:21906778-21906779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs568387514	chr22:21906816-21906817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs534250205	chr22:21906833-21906834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546974300	chr22:21906999-21907000	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs60533570	chr22:21907581-21907582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs468684	chr22:21908607-21908608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs467580	chr22:21908712-21908713	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs556179409	chr22:21908755-21908756	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs368962765	chr22:21908927-21908928	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs467629	chr22:21908959-21908960	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs576067727	chr22:21909377-21909378	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs375040931	chr22:21909429-21909430	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs369494830	chr22:21909443-21909444	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:225)

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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Cognitive impairment	21505072	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21898800-21899000	Enhancers	K562	blood
2	chr22:21899000-21899400	Flanking Active TSS	K562	blood
3	chr22:21899400-21899600	Enhancers	K562	blood
4	chr22:21899600-21900200	Weak transcription	K562	blood
5	chr22:21900200-21900400	Enhancers	K562	blood
6	chr22:21908600-21910200	Weak transcription	Right Atrium	heart
7	chr22:21910000-21910200	Enhancers	Placenta	Placenta
8	chr22:21910000-21910200	Enhancers	A549	lung
9	chr22:21910000-21910200	Enhancers	K562	blood
10	chr22:21910000-21910400	Enhancers	Stomach Mucosa	stomach
11	chr22:21910000-21910600	Enhancers	HepG2	liver
12	chr22:21910000-21910800	Enhancers	NHEK	skin
13	chr22:21910000-21911000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:21910000-21911000	Enhancers	NH-A	brain
15	chr22:21910000-21911200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:21910000-21911200	Enhancers	Hela-S3	cervix
17	chr22:21910200-21910400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:21910200-21910400	Enhancers	Fetal Muscle Leg	muscle
19	chr22:21910200-21910400	Flanking Active TSS	K562	blood
20	chr22:21910200-21910600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:21910200-21910600	Bivalent Enhancer	Placenta	Placenta
22	chr22:21910200-21910600	ZNF genes & repeats	Right Atrium	heart
23	chr22:21910200-21910600	Flanking Active TSS	A549	lung
24	chr22:21910200-21910800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:21910200-21910800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:21910200-21910800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:21910200-21910800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:21910200-21910800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr22:21910200-21910800	Enhancers	HMEC	breast
30	chr22:21910200-21910800	Enhancers	HSMM	muscle
31	chr22:21910200-21910800	Enhancers	NHDF-Ad	bronchial
32	chr22:21910200-21911000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:21910200-21911000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:21910200-21911000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr22:21910200-21911000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:21910200-21911000	Enhancers	Osteobl	bone
37	chr22:21910400-21910600	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr22:21910400-21910800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:21910400-21910800	Bivalent Enhancer	K562	blood
40	chr22:21910600-21911200	Enhancers	Placenta	Placenta
41	chr22:21910600-21921800	Weak transcription	Right Atrium	heart
42	chr22:21910800-21914000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:21911000-21914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:21914000-21914400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:21914000-21914400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:21914000-21914400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:21914400-21921600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:21918400-21921400	Enhancers	K562	blood
49	chr22:21918600-21919000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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