Variant report

Variant	esv1804212
Chromosome Location	chr22:21830098-21917200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1450)
CpG islands
(count:305)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1450 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21910246-21910718	K562	blood:	n/a	n/a
2	ARID3A	chr22:21910418-21910628	HepG2	liver:	n/a	n/a
3	ATF1	chr22:21910267-21910662	K562	blood:	n/a	n/a
4	ATF3	chr22:21866127-21866289	K562	blood:	n/a	n/a
5	ATF3	chr22:21910129-21910721	K562	blood:	n/a	n/a
6	ATF3	chr22:21910162-21910876	K562	blood:	n/a	n/a
7	BACH1	chr22:21910262-21910699	K562	blood:	n/a	n/a
8	BATF	chr22:21871643-21871836	GM12878	blood:	n/a	n/a
9	BATF	chr22:21888942-21889159	GM12878	blood:	n/a	n/a
10	BCL11A	chr22:21888998-21889271	GM12878	blood:	n/a	n/a
11	BCL11A	chr22:21904654-21904960	GM12878	blood:	n/a	n/a
12	BCL11A	chr22:21868416-21868688	GM12878	blood:	n/a	n/a
13	BCL3	chr22:21910210-21910678	A549	lung:	n/a	n/a
14	BHLHE40	chr22:21872293-21872552	HepG2	liver:	n/a	n/a
15	BHLHE40	chr22:21889022-21889308	HepG2	liver:	n/a	n/a
16	BHLHE40	chr22:21864628-21865020	HepG2	liver:	n/a	chr22:21864696-21864712
17	BHLHE40	chr22:21904568-21904918	HepG2	liver:	n/a	n/a
18	BHLHE40	chr22:21880932-21881265	HepG2	liver:	n/a	n/a
19	BHLHE40	chr22:21910291-21910722	K562	blood:	n/a	n/a
20	CBX3	chr22:21871657-21872930	K562	blood:	n/a	n/a
21	CBX3	chr22:21903838-21905213	K562	blood:	n/a	n/a
22	CBX3	chr22:21894581-21895053	K562	blood:	n/a	n/a
23	CBX3	chr22:21850651-21851342	K562	blood:	n/a	n/a
24	CBX3	chr22:21867672-21871343	K562	blood:	n/a	n/a
25	CBX3	chr22:21910069-21911201	K562	blood:	n/a	n/a
26	CBX3	chr22:21885463-21886801	K562	blood:	n/a	n/a
27	CBX3	chr22:21888819-21889586	K562	blood:	n/a	n/a
28	CBX3	chr22:21894438-21895066	K562	blood:	n/a	n/a
29	CBX3	chr22:21898573-21899810	K562	blood:	n/a	n/a
30	CBX3	chr22:21910176-21910813	HCT-116	colon:	n/a	n/a
31	CBX3	chr22:21864312-21865352	K562	blood:	n/a	n/a
32	CCNT2	chr22:21910288-21910581	K562	blood:	n/a	n/a
33	CEBPB	chr22:21881077-21881692	K562	blood:	n/a	n/a
34	CEBPB	chr22:21910184-21910983	K562	blood:	n/a	n/a
35	CEBPB	chr22:21898692-21899256	K562	blood:	n/a	n/a
36	CEBPB	chr22:21881166-21881539	K562	blood:	n/a	n/a
37	CEBPB	chr22:21910268-21910716	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr22:21861855-21862565	K562	blood:	n/a	n/a
39	CEBPB	chr22:21910305-21910988	A549	lung:	n/a	n/a
40	CEBPB	chr22:21910794-21910832	HepG2	liver:	n/a	n/a
41	CEBPB	chr22:21872463-21872997	K562	blood:	n/a	n/a
42	CEBPB	chr22:21906821-21907131	K562	blood:	n/a	n/a
43	CEBPB	chr22:21885883-21886127	K562	blood:	n/a	n/a
44	CEBPB	chr22:21862735-21863114	K562	blood:	n/a	n/a
45	CEBPB	chr22:21864599-21865192	K562	blood:	n/a	chr22:21864876-21864887
46	CEBPB	chr22:21910315-21910989	K562	blood:	n/a	n/a
47	CEBPB	chr22:21906420-21906649	K562	blood:	n/a	n/a
48	CEBPB	chr22:21906116-21906664	K562	blood:	n/a	n/a
49	CEBPB	chr22:21862203-21862460	K562	blood:	n/a	n/a
50	CEBPB	chr22:21862800-21862954	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21871920-21871970	GM12878	blood:	n/a
2	chr22:21906477-21906527	HCF	heart:	n/a
3	chr22:21871914-21871964	SAEC	small airway:	n/a
4	chr22:21871914-21871964	PANC-1	pancreas:	n/a
5	chr22:21906477-21906527	Hela-S3	cervix:	n/a
6	chr22:21906477-21906527	BE2_C	brain:	n/a
7	chr22:21871564-21871614	AG10803	skin:	n/a
8	chr22:21871564-21871614	HCF	heart:	n/a
9	chr22:21867049-21867099	IMR90	lung:	fetal
10	chr22:21871914-21871964	CMK	blood:	n/a
11	chr22:21867049-21867099	HPAEpiC	pulmonary alveolar:	n/a
12	chr22:21871920-21871970	AG04450	lung:	fetal
13	chr22:21867049-21867099	LNCaP	prostate:	n/a
14	chr22:21906477-21906527	NHBE	bronchial:	n/a
15	chr22:21871914-21871964	RPTEC	kidney:	n/a
16	chr22:21871914-21871964	SKMC	muscle:	n/a
17	chr22:21871564-21871614	AG04450	lung:	fetal
18	chr22:21871564-21871614	MCF10A-Er-Src	breast:	n/a
19	chr22:21871914-21871964	NT2-D1	testis:	n/a
20	chr22:21871564-21871614	GM19239	blood:	n/a
21	chr22:21867049-21867099	SKMC	muscle:	n/a
22	chr22:21906477-21906527	BJ	skin:	n/a
23	chr22:21871564-21871614	NHDF-neo	bronchial:	n/a
24	chr22:21871564-21871614	SK-N-MC	brain:	n/a
25	chr22:21871920-21871970	IMR90	lung:	fetal
26	chr22:21867049-21867099	Caco-2	colon:	n/a
27	chr22:21906477-21906527	ovcar-3	ovarian:	n/a
28	chr22:21871920-21871970	NT2-D1	testis:	n/a
29	chr22:21871564-21871614	HMEC	breast:	n/a
30	chr22:21871920-21871970	Hepatocyte	liver:	n/a
31	chr22:21906477-21906527	PANC-1	pancreas:	n/a
32	chr22:21867049-21867099	BE2_C	brain:	n/a
33	chr22:21906477-21906527	AG10803	skin:	n/a
34	chr22:21871920-21871970	NB4	blood:	n/a
35	chr22:21871914-21871964	GM06990	blood:	n/a
36	chr22:21906477-21906527	AG04449	skin:	fetal
37	chr22:21871920-21871970	ECC-1	luminal epithelium:	n/a
38	chr22:21906477-21906527	HEK293	kidney:	embryo
39	chr22:21906477-21906527	LNCaP	prostate:	n/a
40	chr22:21906477-21906527	HCT-116	colon:	n/a
41	chr22:21867049-21867099	AG04450	lung:	fetal
42	chr22:21906477-21906527	HUVEC	blood vessel:	n/a
43	chr22:21871564-21871614	HUVEC	blood vessel:	n/a
44	chr22:21906477-21906527	HRPEpiC	eye:	n/a
45	chr22:21906477-21906527	AG09319	gingival:	n/a
46	chr22:21871564-21871614	K562	blood:	n/a
47	chr22:21906477-21906527	NH-A	brain:	n/a
48	chr22:21867049-21867099	RPTEC	kidney:	n/a
49	chr22:21871920-21871970	MCF-7	breast:	n/a
50	chr22:21871914-21871964	AG09309	skin:	n/a

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

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

(count:3 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 802 )
Associated
traits (count: 226 )

Variant overlapped rSNPs/rCNVs (count:802 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56177906	chr22:21830123-21830124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568704539	chr22:21830124-21830125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531450716	chr22:21830140-21830141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547985335	chr22:21830192-21830193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567974462	chr22:21830306-21830307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538860117	chr22:21830308-21830309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371228091	chr22:21830309-21830310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553304400	chr22:21830382-21830383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566780337	chr22:21830463-21830464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539106181	chr22:21830506-21830507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181113526	chr22:21830540-21830541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371473302	chr22:21830568-21830569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575904922	chr22:21830664-21830665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113786036	chr22:21830682-21830683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544768272	chr22:21830723-21830724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555208189	chr22:21830727-21830728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575039737	chr22:21830734-21830735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540589775	chr22:21830753-21830754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560081941	chr22:21830855-21830856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2930767	chr22:21831543-21831544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138833548	chr22:21831567-21831568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532054136	chr22:21831570-21831571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28690762	chr22:21831579-21831580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28625532	chr22:21831580-21831581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545882057	chr22:21831627-21831628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58495022	chr22:21831667-21831668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562199202	chr22:21831781-21831782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531316334	chr22:21831782-21831783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111471212	chr22:21831807-21831808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547948753	chr22:21832005-21832006	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs369670	chr22:21832031-21832032	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs421064	chr22:21832041-21832042	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547409228	chr22:21832047-21832048	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs566849015	chr22:21832056-21832057	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs538703353	chr22:21832095-21832096	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs552607388	chr22:21832109-21832110	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569331595	chr22:21832181-21832182	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs62237341	chr22:21832202-21832203	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs62237342	chr22:21832241-21832242	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs62237343	chr22:21832247-21832248	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs538356661	chr22:21832306-21832307	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs555169412	chr22:21832309-21832310	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs574970240	chr22:21832311-21832312	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs534499429	chr22:21832336-21832337	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs554216445	chr22:21832386-21832387	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs577470434	chr22:21832400-21832401	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs371352178	chr22:21832428-21832429	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs374881562	chr22:21832443-21832444	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs128479	chr22:21832470-21832471	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs371760669	chr22:21832474-21832475	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:226)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
22q11.2 deletion syndrome	22563040	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cognitive impairment	21505072	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21803600-21836000	Weak transcription	Fetal Intestine Large	intestine
2	chr22:21804200-21835200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr22:21806400-21836000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:21822800-21830600	Weak transcription	Colonic Mucosa	Colon
5	chr22:21822800-21832400	Weak transcription	Fetal Intestine Small	intestine
6	chr22:21822800-21833800	Weak transcription	Gastric	stomach
7	chr22:21822800-21833800	Weak transcription	Ovary	ovary
8	chr22:21822800-21835400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr22:21822800-21835600	Weak transcription	Thymus	Thymus
10	chr22:21822800-21836000	Weak transcription	Lung	lung
11	chr22:21822800-21836200	Weak transcription	Adipose Nuclei	Adipose
12	chr22:21822800-21836400	Weak transcription	HepG2	liver
13	chr22:21822800-21837400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr22:21822800-21841800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:21822800-21845200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:21822800-21845600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:21822800-21847000	Weak transcription	K562	blood
18	chr22:21823600-21836200	Weak transcription	Esophagus	oesophagus
19	chr22:21823600-21843600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:21823800-21833800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:21823800-21835600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:21824000-21833800	Weak transcription	Spleen	Spleen
23	chr22:21824000-21834600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:21824000-21835800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr22:21824000-21842400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr22:21824200-21833600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr22:21824200-21833800	Weak transcription	Fetal Stomach	stomach
28	chr22:21824200-21835400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr22:21824200-21835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:21824200-21835400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr22:21826400-21846200	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:21828400-21834200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr22:21828600-21833800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr22:21829600-21833800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:21829600-21855600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:21830000-21835200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr22:21832400-21832600	Strong transcription	Fetal Intestine Small	intestine
38	chr22:21832600-21833800	Weak transcription	Fetal Intestine Small	intestine
39	chr22:21833800-21834400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:21833800-21834400	Strong transcription	Gastric	stomach
41	chr22:21833800-21834400	Strong transcription	Spleen	Spleen
42	chr22:21833800-21834600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:21833800-21834600	Strong transcription	Fetal Intestine Small	intestine
44	chr22:21833800-21834600	Strong transcription	Fetal Stomach	stomach
45	chr22:21834400-21837000	Weak transcription	Gastric	stomach
46	chr22:21834400-21842000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:21834400-21844800	Weak transcription	Spleen	Spleen
48	chr22:21834600-21842200	Weak transcription	Fetal Stomach	stomach
49	chr22:21834600-21845000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:21834600-21846600	Weak transcription	Fetal Intestine Small	intestine

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