Variant report

Variant	nsv1058144
Chromosome Location	chr22:22226586-22294289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1499)
CpG islands
(count:977)
Chromatin interactive
region (count:121)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1499 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22292460-22293156	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:22256741-22256833	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:22230897-22231640	K562	blood:	n/a	n/a
4	ARID3A	chr22:22292407-22293273	K562	blood:	n/a	n/a
5	ATF1	chr22:22264747-22264931	K562	blood:	n/a	n/a
6	ATF2	chr22:22230879-22231431	GM12878	blood:	n/a	n/a
7	ATF2	chr22:22230967-22231434	GM12878	blood:	n/a	n/a
8	ATF2	chr22:22292364-22293180	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr22:22230690-22231102	K562	blood:	n/a	n/a
10	ATF3	chr22:22282384-22282756	K562	blood:	n/a	n/a
11	ATF3	chr22:22292081-22293278	K562	blood:	n/a	n/a
12	BACH1	chr22:22226665-22226777	K562	blood:	n/a	n/a
13	BACH1	chr22:22292421-22293206	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr22:22292333-22293152	K562	blood:	n/a	n/a
15	BATF	chr22:22230933-22231325	GM12878	blood:	n/a	n/a
16	BATF	chr22:22292460-22292722	GM12878	blood:	n/a	n/a
17	BATF	chr22:22230961-22231342	GM12878	blood:	n/a	n/a
18	BCL11A	chr22:22230995-22231395	GM12878	blood:	n/a	chr22:22231340-22231347
19	BCL3	chr22:22292392-22293207	A549	lung:	n/a	n/a
20	BCL3	chr22:22292737-22293192	A549	lung:	n/a	n/a
21	BCLAF1	chr22:22292363-22293140	GM12878	blood:	n/a	n/a
22	BCLAF1	chr22:22292337-22292849	GM12878	blood:	n/a	n/a
23	BHLHE40	chr22:22292408-22293180	GM12878	blood:	n/a	n/a
24	BHLHE40	chr22:22292171-22293376	K562	blood:	n/a	n/a
25	BHLHE40	chr22:22256777-22257151	K562	blood:	n/a	n/a
26	BHLHE40	chr22:22290696-22291118	K562	blood:	n/a	n/a
27	BHLHE40	chr22:22231082-22231341	GM12878	blood:	n/a	n/a
28	BHLHE40	chr22:22256620-22257150	GM12878	blood:	n/a	n/a
29	BHLHE40	chr22:22236465-22236474	K562	blood:	n/a	n/a
30	BHLHE40	chr22:22256793-22257151	HepG2	liver:	n/a	n/a
31	BRCA1	chr22:22280044-22280205	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr22:22285196-22285214	GM12878	blood:	n/a	n/a
33	BRCA1	chr22:22231088-22231235	GM12878	blood:	n/a	n/a
34	BRCA1	chr22:22293444-22293447	GM12878	blood:	n/a	n/a
35	BRCA1	chr22:22292575-22292676	HepG2	liver:	n/a	n/a
36	BRCA1	chr22:22292338-22292766	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr22:22292443-22293184	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr22:22292226-22293082	GM12878	blood:	n/a	n/a
39	BRCA1	chr22:22292942-22293146	HepG2	liver:	n/a	n/a
40	CBX3	chr22:22291602-22293845	K562	blood:	n/a	n/a
41	CBX3	chr22:22292129-22293390	K562	blood:	n/a	n/a
42	CCNT2	chr22:22274941-22274947	K562	blood:	n/a	n/a
43	CCNT2	chr22:22277529-22277740	K562	blood:	n/a	n/a
44	CCNT2	chr22:22292041-22293483	K562	blood:	n/a	n/a
45	CEBPB	chr22:22228026-22228241	K562	blood:	n/a	n/a
46	CEBPB	chr22:22231008-22231459	K562	blood:	n/a	n/a
47	CEBPB	chr22:22292165-22292493	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr22:22292193-22292499	A549	lung:	n/a	n/a
49	CEBPB	chr22:22272937-22273336	K562	blood:	n/a	n/a
50	CEBPB	chr22:22290751-22291175	K562	blood:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22289520-22289570	GM19239	blood:	n/a
2	chr22:22289520-22289570	GM19239	blood:	n/a
3	chr22:22287697-22287747	AG04449	skin:	fetal
4	chr22:22289520-22289570	HEK293	kidney:	embryo
5	chr22:22236465-22236515	MCF-7	breast:	n/a
6	chr22:22287697-22287747	HepG2	liver:	n/a
7	chr22:22289520-22289570	Jurkat	blood:	n/a
8	chr22:22236465-22236515	AG04450	lung:	fetal
9	chr22:22292774-22292824	LNCaP	prostate:	n/a
10	chr22:22292729-22292779	NT2-D1	testis:	n/a
11	chr22:22236176-22236226	CMK	blood:	n/a
12	chr22:22287697-22287747	NT2-D1	testis:	n/a
13	chr22:22292638-22292688	SKMC	muscle:	n/a
14	chr22:22292774-22292824	AG10803	skin:	n/a
15	chr22:22285359-22285409	BJ	skin:	n/a
16	chr22:22236176-22236226	Jurkat	blood:	n/a
17	chr22:22292774-22292824	IMR90	lung:	fetal
18	chr22:22292638-22292688	IMR90	lung:	fetal
19	chr22:22236176-22236226	NT2-D1	testis:	n/a
20	chr22:22236465-22236515	SKMC	muscle:	n/a
21	chr22:22293118-22293168	BJ	skin:	n/a
22	chr22:22290866-22290916	GM12891	blood:	n/a
23	chr22:22287697-22287747	ProgFib	skin:	n/a
24	chr22:22293118-22293168	GM06990	blood:	n/a
25	chr22:22236465-22236515	HEK293	kidney:	embryo
26	chr22:22288352-22288402	H1-hESC	embryonic stem cell:	embryo
27	chr22:22288559-22288609	HPAEpiC	pulmonary alveolar:	n/a
28	chr22:22288352-22288402	GM12891	blood:	n/a
29	chr22:22292241-22292291	HCPEpiC	choroid plexus:	n/a
30	chr22:22292729-22292779	GM12878	blood:	n/a
31	chr22:22288352-22288402	U87	brain:	n/a
32	chr22:22293118-22293168	GM12892	blood:	n/a
33	chr22:22292774-22292824	H1-hESC	embryonic stem cell:	embryo
34	chr22:22288559-22288609	BJ	skin:	n/a
35	chr22:22275386-22275436	K562	blood:	n/a
36	chr22:22292774-22292824	SAEC	small airway:	n/a
37	chr22:22289520-22289570	BJ	skin:	n/a
38	chr22:22292638-22292688	AoSMC	blood vessel:	n/a
39	chr22:22292729-22292779	AG04450	lung:	fetal
40	chr22:22288559-22288609	GM12892	blood:	n/a
41	chr22:22236465-22236515	PrEC	prostate:	n/a
42	chr22:22290866-22290916	HEEpiC	esophagus:	n/a
43	chr22:22292729-22292779	BJ	skin:	n/a
44	chr22:22236465-22236515	A549	lung:	n/a
45	chr22:22288508-22288558	PFSK-1	brain:	n/a
46	chr22:22275386-22275436	A549	lung:	n/a
47	chr22:22288352-22288402	AG09309	skin:	n/a
48	chr22:22288559-22288609	HCF	heart:	n/a
49	chr22:22236465-22236515	HMEC	breast:	n/a
50	chr22:22288352-22288402	NB4	blood:	n/a

(count:121 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr22:22019913..22020714-chr22:22292936..22293527,2	K562	blood:
2	chr22:22053860..22056327-chr22:22270499..22272537,2	K562	blood:
3	chr22:22274411..22276355-chr22:22316813..22318418,2	K562	blood:
4	chr22:22162010..22163594-chr22:22257433..22259936,2	K562	blood:
5	chr22:22220257..22223604-chr22:22286851..22291007,5	K562	blood:
6	chr22:22221148..22221961-chr22:22292763..22293453,2	K562	blood:
7	chr22:22220811..22224762-chr22:22260599..22264314,3	MCF-7	breast:
8	chr22:22249658..22252905-chr22:22259951..22263562,4	K562	blood:
9	chr22:22228689..22232377-chr22:22290701..22294300,4	K562	blood:
10	chr22:22242609..22244247-chr22:22272159..22274753,3	K562	blood:
11	chr22:22259830..22262116-chr22:22275142..22276644,2	K562	blood:
12	chr22:22252873..22256383-chr22:22290156..22292886,3	K562	blood:
13	chr22:22071322..22073400-chr22:22269185..22271638,3	K562	blood:
14	chr22:22254209..22256329-chr22:22258681..22261497,3	K562	blood:
15	chr22:22226621..22228509-chr22:22306665..22308324,2	K562	blood:
16	chr22:22253444..22256329-chr22:22257367..22260186,3	K562	blood:
17	chr22:22243792..22246179-chr22:22292925..22294596,2	K562	blood:
18	chr22:22255129..22259166-chr22:22267129..22272472,7	K562	blood:
19	chr22:21996385..21999011-chr22:22290359..22293088,2	K562	blood:
20	chr22:22289966..22298336-chr22:22332694..22342462,17	K562	blood:
21	chr22:21996404..21998024-chr22:22293546..22295195,2	K562	blood:
22	chr22:22221699..22224052-chr22:22257209..22259214,3	K562	blood:
23	chr22:22256470..22260039-chr22:22260822..22265830,5	K562	blood:
24	chr22:22005749..22007465-chr22:22293364..22295229,2	K562	blood:
25	chr22:22292189..22293096-chr5:43312426..43313399,2	Hela-S3	cervix:
26	chr22:22088357..22091765-chr22:22258504..22262564,3	K562	blood:
27	chr22:22220394..22223080-chr22:22273867..22276195,3	K562	blood:
28	chr22:22220829..22223040-chr22:22255167..22256718,2	MCF-7	breast:
29	chr22:22149149..22152103-chr22:22281667..22284130,2	K562	blood:
30	chr22:22249658..22252905-chr22:22259951..22263562,4	K562	blood:
31	chr22:22291801..22294589-chr22:22413617..22415961,3	K562	blood:
32	chr22:22282048..22284001-chr22:22320805..22323997,3	K562	blood:
33	chr22:22251405..22254197-chr22:22259898..22262230,2	K562	blood:
34	chr22:21982768..21985323-chr22:22291461..22294984,4	K562	blood:
35	chr22:22037368..22040740-chr22:22291546..22294238,3	K562	blood:
36	chr22:22111218..22112797-chr22:22262465..22264445,2	K562	blood:
37	chr22:21976586..21979474-chr22:22290804..22292395,2	K562	blood:
38	chr22:22289308..22291849-chr22:22311422..22312975,2	K562	blood:
39	chr22:22012894..22015753-chr22:22286806..22288838,2	K562	blood:
40	chr22:22241378..22243809-chr22:22296342..22298388,2	K562	blood:
41	chr22:22291464..22293326-chr22:22305978..22308201,2	MCF-7	breast:
42	chr22:22281349..22281887-chr22:22292484..22293029,2	K562	blood:
43	chr22:22127086..22129647-chr22:22272153..22274882,2	K562	blood:
44	chr22:22257343..22259048-chr22:22270249..22272974,2	K562	blood:
45	chr22:22234535..22237813-chr22:22243928..22246954,3	K562	blood:
46	chr22:22241135..22242732-chr22:22247285..22249362,2	K562	blood:
47	chr22:22256382..22259284-chr22:22291547..22294130,2	K562	blood:
48	chr22:22088545..22090754-chr22:22292290..22294479,2	MCF-7	breast:
49	chr22:22256470..22260039-chr22:22260822..22265830,5	K562	blood:
50	chr22:22222094..22224055-chr22:22260389..22262322,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TOP3B-2	chr22:22291334-22291588	NONHSAT083723
2	lnc-PPIL2-6	chr22:22259443-22260193	NONHSAT083722
3	lnc-PPIL2-1	chr22:22292665-22292934	NONHSAT083725
4	lnc-TOP3B-2	chr22:22292576-22292903	NONHSAT083723
5	lnc-PPIL2-1	chr22:22292609-22294263	ENSG00000224086.3
6	lnc-PPIL2-1	chr22:22292665-22293985	ENSG00000224086.3

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PPM1F	hsa-miR-186-5p	chr22:22276653-22276674

Variant related genes	Relation type
ENSG00000224086	TF binding region
PPM1F	TF binding region
ENSG00000225544	TF binding region
MAPK1	TF binding region
ENSG00000224086	CpG island
PPM1F	CpG island
ENSG00000225544	CpG island
MAPK1	CpG island
ENSG00000100038	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000211637	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000254075	chromatin interactions
ENSG00000200985	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000198663	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000254355	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000100030	chromatin interactions

Extended variants
information (count: 2767 )
Associated
traits (count: 219 )

Variant overlapped rSNPs/rCNVs (count:2767 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76504020	chr22:22226586-22226587	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs534548498	chr22:22226610-22226611	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs557893677	chr22:22226635-22226636	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs147010866	chr22:22226662-22226663	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs537295686	chr22:22226677-22226678	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs141161973	chr22:22226712-22226713	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs71735050	chr22:22226714-22226715	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549593372	chr22:22226792-22226793	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs556855467	chr22:22226923-22226924	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs113847620	chr22:22226987-22226988	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74278042	chr22:22227021-22227022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs5999891	chr22:22227038-22227039	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559195264	chr22:22227081-22227082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372545441	chr22:22227120-22227121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528782556	chr22:22227220-22227221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs137876545	chr22:22227243-22227244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551329875	chr22:22227272-22227273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113635782	chr22:22227285-22227286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540987612	chr22:22227294-22227295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112441221	chr22:22227301-22227302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143046316	chr22:22227324-22227325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148214774	chr22:22227333-22227334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141691141	chr22:22227348-22227349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537077415	chr22:22227357-22227358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529458290	chr22:22227363-22227364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549699108	chr22:22227419-22227420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566333930	chr22:22227421-22227422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182313936	chr22:22227432-22227433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9607347	chr22:22227448-22227449	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs138424752	chr22:22227465-22227466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536730507	chr22:22227466-22227467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9607348	chr22:22227480-22227481	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573774963	chr22:22227494-22227495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536400640	chr22:22227518-22227519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562148011	chr22:22227524-22227525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs71197619	chr22:22227525-22227526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552858828	chr22:22227579-22227580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572793548	chr22:22227590-22227591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555538319	chr22:22227615-22227616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572215797	chr22:22227631-22227632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187178091	chr22:22227635-22227636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564119147	chr22:22227639-22227640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs578075138	chr22:22227676-22227677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569306914	chr22:22227790-22227791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543570254	chr22:22227792-22227793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112255087	chr22:22227804-22227805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371843588	chr22:22227832-22227833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563777513	chr22:22227850-22227851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577688987	chr22:22227905-22227906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373058159	chr22:22227906-22227907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:219)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
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
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
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22222600-22229200	Weak transcription	Right Atrium	heart
2	chr22:22223400-22227200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:22223400-22227600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:22224800-22226600	Enhancers	K562	blood
5	chr22:22226600-22227000	Bivalent Enhancer	K562	blood
6	chr22:22229200-22230800	Strong transcription	Right Atrium	heart
7	chr22:22229400-22230800	Enhancers	K562	blood
8	chr22:22230000-22232400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr22:22230200-22231000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:22230400-22231000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr22:22230400-22231600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:22230400-22231600	Enhancers	Hela-S3	cervix
13	chr22:22230600-22231000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr22:22230600-22231600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:22230800-22231200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:22230800-22231200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr22:22230800-22231200	Enhancers	Spleen	Spleen
18	chr22:22230800-22231200	Flanking Active TSS	K562	blood
19	chr22:22230800-22231200	Enhancers	NH-A	brain
20	chr22:22230800-22231400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:22230800-22231400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr22:22230800-22231400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr22:22230800-22231400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr22:22230800-22231400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr22:22230800-22231400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr22:22230800-22231400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:22230800-22231400	Enhancers	GM12878-XiMat	blood
28	chr22:22230800-22231400	Enhancers	NHDF-Ad	bronchial
29	chr22:22230800-22231600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:22230800-22231600	Enhancers	Primary hematopoietic stem cells	blood
31	chr22:22230800-22231600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr22:22230800-22231600	Enhancers	Osteobl	bone
33	chr22:22230800-22231800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:22230800-22231800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr22:22230800-22231800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr22:22230800-22232400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr22:22230800-22234800	Weak transcription	Right Atrium	heart
38	chr22:22231000-22231200	Enhancers	Aorta	Aorta
39	chr22:22231000-22231400	Enhancers	Primary B cells from cord blood	blood
40	chr22:22231000-22231400	Enhancers	Primary T cells from cord blood	blood
41	chr22:22231000-22231400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:22231000-22231400	Enhancers	Fetal Lung	lung
43	chr22:22231000-22231400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr22:22231200-22231400	Enhancers	K562	blood
45	chr22:22231400-22231600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr22:22234800-22235800	Strong transcription	Right Atrium	heart
47	chr22:22235800-22236600	Bivalent Enhancer	K562	blood
48	chr22:22235800-22258400	Weak transcription	Right Atrium	heart
49	chr22:22236400-22237200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:22236400-22237200	Enhancers	HepG2	liver

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