Variant report

Variant	nsv588309
Chromosome Location	chr22:21526600-21643492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2468)
CpG islands
(count:610)
Chromatin interactive
region (count:0)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2468 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21592118-21592318	HepG2	liver:	n/a	n/a
2	BATF	chr22:21589609-21589832	GM12878	blood:	n/a	n/a
3	BATF	chr22:21598826-21599972	GM12878	blood:	n/a	n/a
4	BATF	chr22:21630913-21631158	GM12878	blood:	n/a	n/a
5	BATF	chr22:21561792-21562184	GM12878	blood:	n/a	n/a
6	BATF	chr22:21633690-21634128	GM12878	blood:	n/a	n/a
7	BATF	chr22:21535504-21535712	GM12878	blood:	n/a	n/a
8	BATF	chr22:21534431-21534821	GM12878	blood:	n/a	chr22:21534544-21534554
9	BATF	chr22:21642702-21642952	GM12878	blood:	n/a	n/a
10	BATF	chr22:21551290-21551548	GM12878	blood:	n/a	n/a
11	BATF	chr22:21640199-21640520	GM12878	blood:	n/a	n/a
12	BATF	chr22:21533096-21533364	GM12878	blood:	n/a	n/a
13	BATF	chr22:21533773-21534122	GM12878	blood:	n/a	n/a
14	BATF	chr22:21629925-21630195	GM12878	blood:	n/a	n/a
15	BATF	chr22:21526589-21526811	GM12878	blood:	n/a	n/a
16	BATF	chr22:21555841-21556178	GM12878	blood:	n/a	n/a
17	BATF	chr22:21537247-21537499	GM12878	blood:	n/a	n/a
18	BATF	chr22:21539847-21540203	GM12878	blood:	n/a	n/a
19	BATF	chr22:21529720-21529985	GM12878	blood:	n/a	n/a
20	BATF	chr22:21612702-21613053	GM12878	blood:	n/a	n/a
21	BATF	chr22:21582473-21582683	GM12878	blood:	n/a	n/a
22	BATF	chr22:21595314-21596320	GM12878	blood:	n/a	n/a
23	BATF	chr22:21545572-21545926	GM12878	blood:	n/a	n/a
24	BATF	chr22:21536438-21536651	GM12878	blood:	n/a	n/a
25	BATF	chr22:21595541-21595907	GM12878	blood:	n/a	n/a
26	BATF	chr22:21598960-21599438	GM12878	blood:	n/a	n/a
27	BATF	chr22:21629855-21630214	GM12878	blood:	n/a	n/a
28	BATF	chr22:21539105-21539312	GM12878	blood:	n/a	n/a
29	BATF	chr22:21598470-21598721	GM12878	blood:	n/a	chr22:21598499-21598512
30	BATF	chr22:21596510-21596681	GM12878	blood:	n/a	n/a
31	BATF	chr22:21530065-21530551	GM12878	blood:	n/a	n/a
32	BATF	chr22:21622260-21622514	GM12878	blood:	n/a	n/a
33	BATF	chr22:21597069-21597517	GM12878	blood:	n/a	n/a
34	BATF	chr22:21604490-21604702	GM12878	blood:	n/a	n/a
35	BATF	chr22:21532564-21532829	GM12878	blood:	n/a	n/a
36	BATF	chr22:21539391-21539831	GM12878	blood:	n/a	n/a
37	BATF	chr22:21536563-21536760	GM12878	blood:	n/a	n/a
38	BATF	chr22:21544870-21545207	GM12878	blood:	n/a	n/a
39	BCL11A	chr22:21542154-21542443	GM12878	blood:	n/a	n/a
40	BCL11A	chr22:21557216-21557815	GM12878	blood:	n/a	n/a
41	BCL11A	chr22:21541016-21541415	GM12878	blood:	n/a	n/a
42	BCL11A	chr22:21599067-21599394	GM12878	blood:	n/a	n/a
43	BCL11A	chr22:21535485-21535722	GM12878	blood:	n/a	n/a
44	BCL11A	chr22:21638069-21638308	GM12878	blood:	n/a	n/a
45	BCL11A	chr22:21529659-21530557	GM12878	blood:	n/a	n/a
46	BCL11A	chr22:21545255-21545668	GM12878	blood:	n/a	n/a
47	BCL11A	chr22:21597055-21597628	GM12878	blood:	n/a	n/a
48	BCL11A	chr22:21597186-21597443	GM12878	blood:	n/a	n/a
49	BCL11A	chr22:21620530-21620718	GM12878	blood:	n/a	n/a
50	BCL11A	chr22:21584761-21585002	GM12878	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21537792-21537842	HCPEpiC	choroid plexus:	n/a
2	chr22:21639231-21639281	SK-N-MC	brain:	n/a
3	chr22:21538194-21538244	AG04450	lung:	fetal
4	chr22:21621725-21621775	HCF	heart:	n/a
5	chr22:21636474-21636524	IMR90	lung:	fetal
6	chr22:21537792-21537842	HNPCEpiC	eye:	n/a
7	chr22:21636512-21636562	RPTEC	kidney:	n/a
8	chr22:21537792-21537842	GM06990	blood:	n/a
9	chr22:21639231-21639281	GM12892	blood:	n/a
10	chr22:21639231-21639281	AG04450	lung:	fetal
11	chr22:21541635-21541685	HCT-116	colon:	n/a
12	chr22:21567227-21567277	HCF	heart:	n/a
13	chr22:21618908-21618958	HUVEC	blood vessel:	n/a
14	chr22:21537792-21537842	AG10803	skin:	n/a
15	chr22:21567227-21567277	HMEC	breast:	n/a
16	chr22:21537792-21537842	GM19239	blood:	n/a
17	chr22:21539377-21539427	AG04450	lung:	fetal
18	chr22:21539377-21539427	Hela-S3	cervix:	n/a
19	chr22:21539377-21539427	ECC-1	luminal epithelium:	n/a
20	chr22:21639231-21639281	GM19239	blood:	n/a
21	chr22:21621725-21621775	Caco-2	colon:	n/a
22	chr22:21636512-21636562	HIPEpiC	eye:	n/a
23	chr22:21538194-21538244	GM12892	blood:	n/a
24	chr22:21567227-21567277	HepG2	liver:	n/a
25	chr22:21538194-21538244	ECC-1	luminal epithelium:	n/a
26	chr22:21636512-21636562	ECC-1	luminal epithelium:	n/a
27	chr22:21621725-21621775	NHBE	bronchial:	n/a
28	chr22:21636474-21636524	NHBE	bronchial:	n/a
29	chr22:21539377-21539427	PANC-1	pancreas:	n/a
30	chr22:21621725-21621775	HRCEpiC	kidney:	n/a
31	chr22:21621725-21621775	GM12891	blood:	n/a
32	chr22:21636512-21636562	NT2-D1	testis:	n/a
33	chr22:21537792-21537842	AoSMC	blood vessel:	n/a
34	chr22:21621725-21621775	AG04450	lung:	fetal
35	chr22:21541635-21541685	AG10803	skin:	n/a
36	chr22:21621725-21621775	Hepatocyte	liver:	n/a
37	chr22:21636512-21636562	HEEpiC	esophagus:	n/a
38	chr22:21539377-21539427	AoSMC	blood vessel:	n/a
39	chr22:21636474-21636524	AG04450	lung:	fetal
40	chr22:21618908-21618958	HL-60	blood:	n/a
41	chr22:21636512-21636562	GM12892	blood:	n/a
42	chr22:21538194-21538244	HepG2	liver:	n/a
43	chr22:21618908-21618958	HCPEpiC	choroid plexus:	n/a
44	chr22:21618908-21618958	GM06990	blood:	n/a
45	chr22:21537792-21537842	AG04449	skin:	fetal
46	chr22:21636512-21636562	PrEC	prostate:	n/a
47	chr22:21541635-21541685	Hela-S3	cervix:	n/a
48	chr22:21639231-21639281	IMR90	lung:	fetal
49	chr22:21618908-21618958	AG09309	skin:	n/a
50	chr22:21639231-21639281	GM12878	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
2	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
3	lnc-GGT2-1	chr22:21534049-21534164	ENSG00000234503
4	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
5	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
6	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
7	lnc-AP000552.1-2	chr22:21546011-21546438	ENSG00000215498.4
8	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
9	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
10	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
11	lnc-AP000552.1-2	chr22:21540410-21541366	ENSG00000215498.4
12	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
13	lnc-AP000552.1-2	chr22:21537560-21537611	ENSG00000215498.4
14	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
15	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
16	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
17	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
18	lnc-AP000552.1-2	chr22:21535741-21537263	ENSG00000215498.4
19	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
20	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
21	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
22	lnc-GGT2-1	chr22:21532181-21532838	ENSG00000234503
23	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4

No data

Variant related genes	Relation type
ENSG00000234503	TF binding region
ENSG00000226885	TF binding region
GGT2	TF binding region
POM121L8P	TF binding region
ENSG00000234503	CpG island
ENSG00000226885	CpG island
GGT2	CpG island
POM121L8P	CpG island

Extended variants
information (count: 1347 )
Associated
traits (count: 230 )

Variant overlapped rSNPs/rCNVs (count:1347 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200754164	chr22:21532510-21532511	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs201904893	chr22:21532540-21532541	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs200065273	chr22:21532561-21532562	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs200721879	chr22:21532629-21532630	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs71233176	chr22:21532832-21532833	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs566337718	chr22:21534327-21534328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs538546434	chr22:21534587-21534588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs202223569	chr22:21534771-21534772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs9605566	chr22:21534973-21534974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs552491400	chr22:21535031-21535032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs571528115	chr22:21535098-21535099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs537486340	chr22:21535099-21535100	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs557098512	chr22:21535100-21535101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs199960966	chr22:21535185-21535186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs574136155	chr22:21535217-21535218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs536754678	chr22:21535229-21535230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553596017	chr22:21535271-21535272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs573526023	chr22:21535310-21535311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs545356756	chr22:21535810-21535811	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs200777081	chr22:21535840-21535841	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs565608643	chr22:21535927-21535928	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs370198859	chr22:21535937-21535938	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs575861087	chr22:21535987-21535988	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs150134356	chr22:21536037-21536038	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs536856	chr22:21536048-21536049	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs529698167	chr22:21536049-21536050	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs537562	chr22:21536068-21536069	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs146928556	chr22:21536167-21536168	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs367627748	chr22:21536279-21536280	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs201656955	chr22:21536290-21536291	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs200378409	chr22:21536292-21536293	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs62240896	chr22:21536372-21536373	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs546328846	chr22:21536450-21536451	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs201155817	chr22:21536638-21536639	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs371383339	chr22:21536641-21536642	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs375854997	chr22:21536652-21536653	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs369163043	chr22:21536679-21536680	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs559912630	chr22:21536698-21536699	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs371723163	chr22:21536709-21536710	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs373876613	chr22:21536738-21536739	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs377590743	chr22:21536763-21536764	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs532365144	chr22:21536783-21536784	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs552171389	chr22:21536814-21536815	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs569105280	chr22:21536822-21536823	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs369530000	chr22:21536845-21536846	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs374260328	chr22:21536850-21536851	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs376958271	chr22:21536867-21536868	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs202003316	chr22:21536875-21536876	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs200348411	chr22:21536902-21536903	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs567705933	chr22:21537024-21537025	Inactive region	TF binding region lncRNA	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21548800-21549200	Enhancers	HepG2	liver
2	chr22:21557200-21557400	Enhancers	Fetal Muscle Trunk	muscle
3	chr22:21557400-21558400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr22:21558400-21558600	Enhancers	Fetal Muscle Trunk	muscle
5	chr22:21558600-21559000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr22:21558600-21559000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:21558600-21559000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr22:21558600-21559000	Enhancers	Fetal Muscle Leg	muscle
9	chr22:21559000-21560200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:21559000-21560200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:21560200-21560400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr22:21560400-21560600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr22:21566000-21569400	Weak transcription	Right Atrium	heart
14	chr22:21569800-21590800	Weak transcription	Gastric	stomach
15	chr22:21570200-21570800	Enhancers	HMEC	breast
16	chr22:21570400-21570600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:21570400-21570800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr22:21570400-21570800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:21576000-21576200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:21576000-21576200	Enhancers	Spleen	Spleen
21	chr22:21590600-21590800	Enhancers	Stomach Mucosa	stomach
22	chr22:21590600-21591200	Enhancers	Pancreas	Pancrea
23	chr22:21590800-21591000	Enhancers	Gastric	stomach
24	chr22:21590800-21591800	Weak transcription	Stomach Mucosa	stomach
25	chr22:21591000-21591800	Weak transcription	Gastric	stomach
26	chr22:21591200-21591600	Weak transcription	Pancreas	Pancrea
27	chr22:21591600-21592800	Enhancers	Pancreas	Pancrea
28	chr22:21591800-21592000	Enhancers	Duodenum Mucosa	Duodenum
29	chr22:21591800-21592200	Enhancers	Fetal Intestine Large	intestine
30	chr22:21591800-21592200	Enhancers	Fetal Intestine Small	intestine
31	chr22:21591800-21592200	Enhancers	Gastric	stomach
32	chr22:21591800-21592200	Enhancers	Stomach Mucosa	stomach
33	chr22:21591800-21592400	Enhancers	HepG2	liver
34	chr22:21592000-21592200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:21592000-21592200	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr22:21592200-21592400	Enhancers	Duodenum Mucosa	Duodenum
37	chr22:21592400-21592800	Active TSS	Duodenum Mucosa	Duodenum
38	chr22:21598600-21599000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr22:21604600-21605000	Bivalent Enhancer	HepG2	liver
40	chr22:21607400-21608600	Enhancers	HepG2	liver
41	chr22:21607800-21608200	Enhancers	Fetal Intestine Small	intestine
42	chr22:21607800-21608600	Enhancers	Fetal Intestine Large	intestine
43	chr22:21608400-21608600	Enhancers	HSMMtube	muscle
44	chr22:21608600-21609800	Weak transcription	Fetal Intestine Large	intestine
45	chr22:21608600-21609800	Weak transcription	HepG2	liver
46	chr22:21608600-21610400	Weak transcription	HSMMtube	muscle
47	chr22:21609800-21610200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:21609800-21610600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:21609800-21610600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:21609800-21610600	Enhancers	Hela-S3	cervix

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