Variant report

Variant	esv21211
Chromosome Location	chr22:20659469-20708695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:986)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:986 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr22:20691434-20691787	GM12878	blood:	n/a	n/a
2	BATF	chr22:20689083-20689339	GM12878	blood:	n/a	n/a
3	BATF	chr22:20707505-20707718	GM12878	blood:	n/a	n/a
4	BATF	chr22:20706564-20706772	GM12878	blood:	n/a	n/a
5	BATF	chr22:20704837-20705151	GM12878	blood:	n/a	n/a
6	BATF	chr22:20700720-20701058	GM12878	blood:	n/a	n/a
7	BATF	chr22:20682994-20683256	GM12878	blood:	n/a	n/a
8	BATF	chr22:20695672-20695836	GM12878	blood:	n/a	n/a
9	BATF	chr22:20689408-20689810	GM12878	blood:	n/a	n/a
10	BATF	chr22:20688976-20689337	GM12878	blood:	n/a	n/a
11	BATF	chr22:20692282-20692504	GM12878	blood:	n/a	n/a
12	BATF	chr22:20695109-20695381	GM12878	blood:	n/a	chr22:20695212-20695223
13	BATF	chr22:20691456-20691792	GM12878	blood:	n/a	n/a
14	BATF	chr22:20697648-20697855	GM12878	blood:	n/a	n/a
15	BATF	chr22:20701125-20701590	GM12878	blood:	n/a	n/a
16	BATF	chr22:20705452-20705653	GM12878	blood:	n/a	chr22:20705604-20705614
17	BATF	chr22:20689355-20689818	GM12878	blood:	n/a	n/a
18	BATF	chr22:20705491-20705797	GM12878	blood:	n/a	chr22:20705604-20705614
19	BATF	chr22:20692280-20692501	GM12878	blood:	n/a	n/a
20	BATF	chr22:20682993-20683344	GM12878	blood:	n/a	n/a
21	BATF	chr22:20704152-20704420	GM12878	blood:	n/a	n/a
22	BCL11A	chr22:20689423-20689790	GM12878	blood:	n/a	n/a
23	BCL11A	chr22:20700654-20701413	GM12878	blood:	n/a	n/a
24	BCL11A	chr22:20691427-20691775	GM12878	blood:	n/a	n/a
25	BCL11A	chr22:20696767-20697036	GM12878	blood:	n/a	n/a
26	BCL11A	chr22:20695093-20695286	GM12878	blood:	n/a	chr22:20695103-20695112 chr22:20695212-20695221
27	BCL11A	chr22:20689135-20689331	GM12878	blood:	n/a	n/a
28	BCL11A	chr22:20697151-20697358	GM12878	blood:	n/a	n/a
29	BCL11A	chr22:20703665-20703934	GM12878	blood:	n/a	n/a
30	BCL11A	chr22:20694397-20694737	GM12878	blood:	n/a	chr22:20694629-20694638
31	BCL11A	chr22:20689024-20689703	GM12878	blood:	n/a	n/a
32	BCL11A	chr22:20700742-20701651	GM12878	blood:	n/a	n/a
33	BCL11A	chr22:20692273-20692522	GM12878	blood:	n/a	n/a
34	BCL11A	chr22:20707623-20707920	GM12878	blood:	n/a	n/a
35	BCL11A	chr22:20688942-20689127	GM12878	blood:	n/a	n/a
36	BCL11A	chr22:20685196-20685375	GM12878	blood:	n/a	n/a
37	BCL11A	chr22:20692284-20692480	GM12878	blood:	n/a	n/a
38	BCL11A	chr22:20691438-20691725	GM12878	blood:	n/a	n/a
39	BCL11A	chr22:20706545-20706782	GM12878	blood:	n/a	n/a
40	BCL3	chr22:20708451-20709234	GM12878	blood:	n/a	n/a
41	BCL3	chr22:20708529-20708958	GM12878	blood:	n/a	n/a
42	BHLHE40	chr22:20694394-20694642	HepG2	liver:	n/a	n/a
43	BHLHE40	chr22:20704919-20705283	HepG2	liver:	n/a	n/a
44	BHLHE40	chr22:20688923-20689108	HepG2	liver:	n/a	n/a
45	BHLHE40	chr22:20692219-20692580	HepG2	liver:	n/a	n/a
46	BHLHE40	chr22:20691373-20691739	HepG2	liver:	n/a	n/a
47	BHLHE40	chr22:20689163-20689830	HepG2	liver:	n/a	n/a
48	CEBPB	chr22:20707163-20707365	HepG2	liver:	n/a	n/a
49	CEBPB	chr22:20659451-20659760	HepG2	liver:	n/a	chr22:20659575-20659586 chr22:20659575-20659588
50	CTCF	chr22:20689493-20689619	Gliobla	brain:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20670922-20670972	HCF	heart:	n/a
2	chr22:20708652-20708702	GM12878	blood:	n/a
3	chr22:20708652-20708702	T-47D	breast:	n/a
4	chr22:20708652-20708702	HMEC	breast:	n/a
5	chr22:20706928-20706978	K562	blood:	n/a
6	chr22:20706928-20706978	PFSK-1	brain:	n/a
7	chr22:20706928-20706978	A549	lung:	n/a
8	chr22:20670922-20670972	HRPEpiC	eye:	n/a
9	chr22:20670922-20670972	PANC-1	pancreas:	n/a
10	chr22:20708652-20708702	K562	blood:	n/a
11	chr22:20706928-20706978	LNCaP	prostate:	n/a
12	chr22:20708652-20708702	AG09309	skin:	n/a
13	chr22:20708652-20708702	HRCEpiC	kidney:	n/a
14	chr22:20706928-20706978	HL-60	blood:	n/a
15	chr22:20706928-20706978	NH-A	brain:	n/a
16	chr22:20670922-20670972	HL-60	blood:	n/a
17	chr22:20670922-20670972	NB4	blood:	n/a
18	chr22:20670922-20670972	ovcar-3	ovarian:	n/a
19	chr22:20708652-20708702	SK-N-MC	brain:	n/a
20	chr22:20670922-20670972	NHBE	bronchial:	n/a
21	chr22:20708652-20708702	SKMC	muscle:	n/a
22	chr22:20708652-20708702	Hela-S3	cervix:	n/a
23	chr22:20706928-20706978	SK-N-SH_RA	brain:	n/a
24	chr22:20706928-20706978	HEK293	kidney:	embryo
25	chr22:20670922-20670972	Jurkat	blood:	n/a
26	chr22:20670922-20670972	BE2_C	brain:	n/a
27	chr22:20706928-20706978	MCF10A-Er-Src	breast:	n/a
28	chr22:20708652-20708702	HCPEpiC	choroid plexus:	n/a
29	chr22:20706928-20706978	AoSMC	blood vessel:	n/a
30	chr22:20670922-20670972	BJ	skin:	n/a
31	chr22:20706928-20706978	GM06990	blood:	n/a
32	chr22:20670922-20670972	AG04450	lung:	fetal
33	chr22:20708652-20708702	MCF10A-Er-Src	breast:	n/a
34	chr22:20670922-20670972	T-47D	breast:	n/a
35	chr22:20708652-20708702	AG04450	lung:	fetal
36	chr22:20670922-20670972	PFSK-1	brain:	n/a
37	chr22:20708652-20708702	HUVEC	blood vessel:	n/a
38	chr22:20670922-20670972	ECC-1	luminal epithelium:	n/a
39	chr22:20670922-20670972	HNPCEpiC	eye:	n/a
40	chr22:20708652-20708702	ProgFib	skin:	n/a
41	chr22:20708652-20708702	AoSMC	blood vessel:	n/a
42	chr22:20706928-20706978	HNPCEpiC	eye:	n/a
43	chr22:20708652-20708702	CMK	blood:	n/a
44	chr22:20708652-20708702	HCM	heart:	n/a
45	chr22:20706928-20706978	AG04450	lung:	fetal
46	chr22:20670922-20670972	NH-A	brain:	n/a
47	chr22:20706928-20706978	HCT-116	colon:	n/a
48	chr22:20706928-20706978	PANC-1	pancreas:	n/a
49	chr22:20670922-20670972	U87	brain:	n/a
50	chr22:20708652-20708702	GM19239	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP41-1	chr22:20661121-20661407	ENSG00000223579
2	lnc-USP41-1	chr22:20660211-20660269	ENSG00000223579

No data

Variant related genes	Relation type
ENSG00000223579	TF binding region
PPP1R26P3	TF binding region
FAM230A	TF binding region
ENSG00000223579	CpG island
PPP1R26P3	CpG island
FAM230A	CpG island

Extended variants
information (count: 275 )
Associated
traits (count: 229 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371322005	chr22:20659494-20659495	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs567970757	chr22:20659496-20659497	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530378357	chr22:20659497-20659498	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566630589	chr22:20659499-20659500	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs566753432	chr22:20659501-20659502	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs73155196	chr22:20659504-20659505	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs547220053	chr22:20659508-20659509	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374521018	chr22:20659516-20659517	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs367553043	chr22:20659517-20659518	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs143962174	chr22:20659518-20659519	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2570607	chr22:20659522-20659523	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs374874797	chr22:20659529-20659530	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs368586569	chr22:20659531-20659532	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs9612892	chr22:20659534-20659535	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs11090371	chr22:20659557-20659558	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs571186328	chr22:20659559-20659560	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111309061	chr22:20659562-20659563	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs147351846	chr22:20659565-20659566	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs192786069	chr22:20659583-20659584	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs139810610	chr22:20659593-20659594	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs12159890	chr22:20659596-20659597	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs184464102	chr22:20659597-20659598	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537378020	chr22:20659604-20659605	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs556996384	chr22:20659607-20659608	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs573845436	chr22:20659613-20659614	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs556647011	chr22:20659634-20659635	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs536460019	chr22:20659636-20659637	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs553101606	chr22:20659637-20659638	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs573016788	chr22:20659639-20659640	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs12160710	chr22:20659641-20659642	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs187449052	chr22:20659646-20659647	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs149710125	chr22:20659659-20659660	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs544664088	chr22:20659664-20659665	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs1309186	chr22:20659695-20659696	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs564925197	chr22:20659705-20659706	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs575154699	chr22:20659727-20659728	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs12157282	chr22:20659731-20659732	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs376729408	chr22:20659733-20659734	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs202031767	chr22:20659737-20659738	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs738097	chr22:20659745-20659746	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs561258337	chr22:20659747-20659748	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs530188929	chr22:20659751-20659752	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs546835138	chr22:20659752-20659753	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs524387	chr22:20659769-20659770	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs560201231	chr22:20659770-20659771	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs2570609	chr22:20659777-20659778	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs2570610	chr22:20659778-20659779	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs11090378	chr22:20659782-20659783	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs530880579	chr22:20659790-20659791	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs151317841	chr22:20659793-20659794	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:229)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal cancer	21851588	CNVD
22q11.2 deletion syndrome	22563040	CNVD
cardiac septal defect	19239688	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
Type 2 diabetes	21526130	CNVD
Ependymoma	20639864	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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	17989066	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20657800-20659600	Weak transcription	Gastric	stomach
2	chr22:20657800-20659600	Weak transcription	Left Ventricle	heart
3	chr22:20659600-20659800	Enhancers	Left Ventricle	heart
4	chr22:20707000-20707400	Enhancers	HMEC	breast
5	chr22:20707600-20721200	Weak transcription	Right Atrium	heart
6	chr22:20708600-20708800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:20708600-20709200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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