Variant report

Variant	esv19499
Chromosome Location	chr22:21486917-21564785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2034)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:42)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2034 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr22:21505263-21505378	K562	blood:	n/a	chr22:21505324-21505335 chr22:21505327-21505337 chr22:21505324-21505334 chr22:21505323-21505336 chr22:21505325-21505338 chr22:21505323-21505338 chr22:21505325-21505336 chr22:21505327-21505335 chr22:21505315-21505335 chr22:21505325-21505336 chr22:21505324-21505334 chr22:21505327-21505334 chr22:21505324-21505337 chr22:21505324-21505337
2	BATF	chr22:21539847-21540203	GM12878	blood:	n/a	n/a
3	BATF	chr22:21529720-21529985	GM12878	blood:	n/a	n/a
4	BATF	chr22:21555841-21556178	GM12878	blood:	n/a	n/a
5	BATF	chr22:21488874-21489181	GM12878	blood:	n/a	n/a
6	BATF	chr22:21524608-21524792	GM12878	blood:	n/a	n/a
7	BATF	chr22:21533096-21533364	GM12878	blood:	n/a	n/a
8	BATF	chr22:21534431-21534821	GM12878	blood:	n/a	chr22:21534544-21534554
9	BATF	chr22:21535504-21535712	GM12878	blood:	n/a	n/a
10	BATF	chr22:21544870-21545207	GM12878	blood:	n/a	n/a
11	BATF	chr22:21539391-21539831	GM12878	blood:	n/a	n/a
12	BATF	chr22:21521889-21522186	GM12878	blood:	n/a	n/a
13	BATF	chr22:21526589-21526811	GM12878	blood:	n/a	n/a
14	BATF	chr22:21514000-21514283	GM12878	blood:	n/a	n/a
15	BATF	chr22:21521062-21521331	GM12878	blood:	n/a	n/a
16	BATF	chr22:21521921-21522186	GM12878	blood:	n/a	n/a
17	BATF	chr22:21520245-21520522	GM12878	blood:	n/a	n/a
18	BATF	chr22:21530065-21530551	GM12878	blood:	n/a	n/a
19	BATF	chr22:21496561-21496815	GM12878	blood:	n/a	n/a
20	BATF	chr22:21536563-21536760	GM12878	blood:	n/a	n/a
21	BATF	chr22:21488893-21489171	GM12878	blood:	n/a	n/a
22	BATF	chr22:21536438-21536651	GM12878	blood:	n/a	n/a
23	BATF	chr22:21521061-21521331	GM12878	blood:	n/a	n/a
24	BATF	chr22:21545572-21545926	GM12878	blood:	n/a	n/a
25	BATF	chr22:21533773-21534122	GM12878	blood:	n/a	n/a
26	BATF	chr22:21561792-21562184	GM12878	blood:	n/a	n/a
27	BATF	chr22:21539105-21539312	GM12878	blood:	n/a	n/a
28	BATF	chr22:21487931-21488176	GM12878	blood:	n/a	n/a
29	BATF	chr22:21551290-21551548	GM12878	blood:	n/a	n/a
30	BATF	chr22:21520279-21520520	GM12878	blood:	n/a	n/a
31	BATF	chr22:21532564-21532829	GM12878	blood:	n/a	n/a
32	BATF	chr22:21537247-21537499	GM12878	blood:	n/a	n/a
33	BCL11A	chr22:21546724-21546975	GM12878	blood:	n/a	n/a
34	BCL11A	chr22:21521882-21522204	GM12878	blood:	n/a	n/a
35	BCL11A	chr22:21526107-21526314	GM12878	blood:	n/a	n/a
36	BCL11A	chr22:21528939-21529182	GM12878	blood:	n/a	n/a
37	BCL11A	chr22:21529594-21530549	GM12878	blood:	n/a	n/a
38	BCL11A	chr22:21555560-21555970	GM12878	blood:	n/a	n/a
39	BCL11A	chr22:21525723-21525992	GM12878	blood:	n/a	n/a
40	BCL11A	chr22:21520207-21520533	GM12878	blood:	n/a	n/a
41	BCL11A	chr22:21520125-21520514	GM12878	blood:	n/a	n/a
42	BCL11A	chr22:21529659-21530557	GM12878	blood:	n/a	n/a
43	BCL11A	chr22:21541016-21541415	GM12878	blood:	n/a	n/a
44	BCL11A	chr22:21536316-21536892	GM12878	blood:	n/a	n/a
45	BCL11A	chr22:21561794-21562148	GM12878	blood:	n/a	n/a
46	BCL11A	chr22:21526726-21526916	GM12878	blood:	n/a	n/a
47	BCL11A	chr22:21545255-21545668	GM12878	blood:	n/a	n/a
48	BCL11A	chr22:21532609-21532878	GM12878	blood:	n/a	n/a
49	BCL11A	chr22:21547326-21547504	GM12878	blood:	n/a	n/a
50	BCL11A	chr22:21537465-21537720	GM12878	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21541635-21541685	GM12892	blood:	n/a
2	chr22:21538194-21538244	GM12891	blood:	n/a
3	chr22:21505676-21505726	HIPEpiC	eye:	n/a
4	chr22:21539377-21539427	BE2_C	brain:	n/a
5	chr22:21505345-21505395	HAEpiC	amniotic membrane:	n/a
6	chr22:21505676-21505726	Jurkat	blood:	n/a
7	chr22:21537792-21537842	HIPEpiC	eye:	n/a
8	chr22:21505345-21505395	NT2-D1	testis:	n/a
9	chr22:21537792-21537842	MCF-7	breast:	n/a
10	chr22:21505345-21505395	GM19239	blood:	n/a
11	chr22:21505676-21505726	RPTEC	kidney:	n/a
12	chr22:21539377-21539427	PrEC	prostate:	n/a
13	chr22:21541635-21541685	HCM	heart:	n/a
14	chr22:21505676-21505726	HMEC	breast:	n/a
15	chr22:21539377-21539427	HNPCEpiC	eye:	n/a
16	chr22:21538194-21538244	HEK293	kidney:	embryo
17	chr22:21539377-21539427	HUVEC	blood vessel:	n/a
18	chr22:21505676-21505726	HUVEC	blood vessel:	n/a
19	chr22:21505345-21505395	HIPEpiC	eye:	n/a
20	chr22:21505676-21505726	Hepatocyte	liver:	n/a
21	chr22:21538194-21538244	HPAEpiC	pulmonary alveolar:	n/a
22	chr22:21538194-21538244	HNPCEpiC	eye:	n/a
23	chr22:21541635-21541685	Hela-S3	cervix:	n/a
24	chr22:21538194-21538244	H1-hESC	embryonic stem cell:	embryo
25	chr22:21541635-21541685	PrEC	prostate:	n/a
26	chr22:21541635-21541685	AoSMC	blood vessel:	n/a
27	chr22:21538194-21538244	SKMC	muscle:	n/a
28	chr22:21505676-21505726	BJ	skin:	n/a
29	chr22:21541635-21541685	A549	lung:	n/a
30	chr22:21505676-21505726	HRPEpiC	eye:	n/a
31	chr22:21537792-21537842	HNPCEpiC	eye:	n/a
32	chr22:21538194-21538244	Caco-2	colon:	n/a
33	chr22:21541635-21541685	IMR90	lung:	fetal
34	chr22:21505345-21505395	SK-N-SH_RA	brain:	n/a
35	chr22:21541635-21541685	Caco-2	colon:	n/a
36	chr22:21537792-21537842	HCF	heart:	n/a
37	chr22:21539377-21539427	GM12878	blood:	n/a
38	chr22:21505345-21505395	RPTEC	kidney:	n/a
39	chr22:21537792-21537842	NHBE	bronchial:	n/a
40	chr22:21505676-21505726	HEEpiC	esophagus:	n/a
41	chr22:21505345-21505395	IMR90	lung:	fetal
42	chr22:21541635-21541685	PANC-1	pancreas:	n/a
43	chr22:21505345-21505395	SKMC	muscle:	n/a
44	chr22:21539377-21539427	AG04450	lung:	fetal
45	chr22:21537792-21537842	RPTEC	kidney:	n/a
46	chr22:21539377-21539427	PFSK-1	brain:	n/a
47	chr22:21537792-21537842	AG09319	gingival:	n/a
48	chr22:21537792-21537842	HCM	heart:	n/a
49	chr22:21505345-21505395	T-47D	breast:	n/a
50	chr22:21505676-21505726	A549	lung:	n/a

No data

(count:42 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
2	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
3	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
4	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
5	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
6	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
7	lnc-AP000552.1-2	chr22:21525370-21525497	ENSG00000215498.4
8	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
9	lnc-AP000552.1-2	chr22:21524762-21524894	ENSG00000215498.4
10	lnc-AP000552.1-2	chr22:21546011-21546438	ENSG00000215498.4
11	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
12	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
13	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
14	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
15	lnc-GGT2-1	chr22:21532181-21532838	ENSG00000234503
16	lnc-AP000552.1-2	chr22:21535741-21537263	ENSG00000215498.4
17	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
18	lnc-AP000552.1-2	chr22:21522174-21522258	ENSG00000215498.4
19	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
20	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
21	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
22	lnc-AP000552.1-2	chr22:21537560-21537611	ENSG00000215498.4
23	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
24	lnc-AP000552.1-2	chr22:21524102-21524293	ENSG00000215498.4
25	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
26	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
27	lnc-AP000552.1-2	chr22:21522142-21522258	ENSG00000215498.4
28	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
29	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
30	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
31	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
32	lnc-AP000552.1-2	chr22:21524762-21525141	ENSG00000215498.4
33	lnc-AP000552.1-2	chr22:21522142-21522258	ENSG00000215498.4
34	lnc-AP000552.1-2	chr22:21524154-21524293	ENSG00000215498.4
35	lnc-AP000552.1-2	chr22:21540410-21541366	ENSG00000215498.4
36	lnc-AP000552.1-2	chr22:21522118-21522258	ENSG00000215498.4
37	lnc-AP000552.1-2	chr22:21524762-21524944	ENSG00000215498.4
38	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
39	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
40	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
41	lnc-GGT2-1	chr22:21534049-21534164	ENSG00000234503
42	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4

No data

Variant related genes	Relation type
ENSG00000234503	TF binding region
ENSG00000224688	TF binding region
FAM230B	TF binding region
POM121L7	TF binding region
ENSG00000234503	CpG island
ENSG00000224688	CpG island
FAM230B	CpG island
POM121L7	CpG island

Extended variants
information (count: 532 )
Associated
traits (count: 230 )

Variant overlapped rSNPs/rCNVs (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539732	chr22:21486919-21486920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs590410	chr22:21487028-21487029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs543894478	chr22:21487127-21487128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs9625668	chr22:21487224-21487225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs546326919	chr22:21492632-21492633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566325212	chr22:21492650-21492651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200217401	chr22:21492676-21492677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558414180	chr22:21492706-21492707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568776139	chr22:21492922-21492923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537742451	chr22:21496737-21496738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs554895797	chr22:21496741-21496742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs567531811	chr22:21496852-21496853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs537482231	chr22:21496865-21496866	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs536682224	chr22:21496892-21496893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs363961	chr22:21496954-21496955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs573349383	chr22:21496966-21496967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539141518	chr22:21496974-21496975	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs559152491	chr22:21496978-21496979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs62239788	chr22:21496993-21496994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs575833297	chr22:21497022-21497023	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558515243	chr22:21497027-21497028	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs9613808	chr22:21497122-21497123	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs9613809	chr22:21497155-21497156	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs544572238	chr22:21497255-21497256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs9625704	chr22:21498116-21498117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs561651893	chr22:21498511-21498512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs376699762	chr22:21498979-21498980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs370913445	chr22:21499051-21499052	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs574335067	chr22:21499097-21499098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs539808955	chr22:21499212-21499213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs559737538	chr22:21499216-21499217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs7510939	chr22:21499808-21499809	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs111946046	chr22:21500065-21500066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs9605765	chr22:21500119-21500120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs9605764	chr22:21500120-21500121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs113029939	chr22:21500481-21500482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs532030864	chr22:21501532-21501533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs199636428	chr22:21501543-21501544	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs531562872	chr22:21503400-21503401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs137978508	chr22:21503510-21503511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548174724	chr22:21503517-21503518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75911663	chr22:21503689-21503690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367909746	chr22:21503763-21503764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200619406	chr22:21517254-21517255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs371660252	chr22:21517333-21517334	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs375471867	chr22:21517372-21517373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs62239809	chr22:21517397-21517398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs9620882	chr22:21517412-21517413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs372009033	chr22:21517452-21517453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs376691057	chr22:21517482-21517483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:230)

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
Glioblastoma multiforme	22286061	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
Type 2 diabetes	21526130	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21492600-21493000	Enhancers	HepG2	liver
2	chr22:21497000-21497200	Bivalent Enhancer	K562	blood
3	chr22:21503200-21503800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:21520400-21520600	Enhancers	Gastric	stomach
5	chr22:21520600-21520800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr22:21520600-21520800	Flanking Active TSS	Gastric	stomach
7	chr22:21520600-21521000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:21520600-21521000	ZNF genes & repeats	Pancreas	Pancrea
9	chr22:21520800-21521000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:21520800-21521000	ZNF genes & repeats	Esophagus	oesophagus
11	chr22:21520800-21521000	Flanking Bivalent TSS/Enh	Gastric	stomach
12	chr22:21548800-21549200	Enhancers	HepG2	liver
13	chr22:21557200-21557400	Enhancers	Fetal Muscle Trunk	muscle
14	chr22:21557400-21558400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr22:21558400-21558600	Enhancers	Fetal Muscle Trunk	muscle
16	chr22:21558600-21559000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr22:21558600-21559000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr22:21558600-21559000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr22:21558600-21559000	Enhancers	Fetal Muscle Leg	muscle
20	chr22:21559000-21560200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr22:21559000-21560200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr22:21560200-21560400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr22:21560400-21560600	Enhancers	HUES6 Cell Line	embryonic stem cell

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