Variant report

Variant	nsv1065415
Chromosome Location	chr22:22228669-22299281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1602)
CpG islands
(count:1039)
Chromatin interactive
region (count:132)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1602 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22230897-22231640	K562	blood:	n/a	n/a
2	ARID3A	chr22:22292460-22293156	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:22292407-22293273	K562	blood:	n/a	n/a
4	ARID3A	chr22:22256741-22256833	HepG2	liver:	n/a	n/a
5	ATF1	chr22:22264747-22264931	K562	blood:	n/a	n/a
6	ATF2	chr22:22230967-22231434	GM12878	blood:	n/a	n/a
7	ATF2	chr22:22292364-22293180	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr22:22230879-22231431	GM12878	blood:	n/a	n/a
9	ATF3	chr22:22292081-22293278	K562	blood:	n/a	n/a
10	ATF3	chr22:22230690-22231102	K562	blood:	n/a	n/a
11	ATF3	chr22:22282384-22282756	K562	blood:	n/a	n/a
12	BACH1	chr22:22292421-22293206	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr22:22292333-22293152	K562	blood:	n/a	n/a
14	BATF	chr22:22230933-22231325	GM12878	blood:	n/a	n/a
15	BATF	chr22:22292460-22292722	GM12878	blood:	n/a	n/a
16	BATF	chr22:22230961-22231342	GM12878	blood:	n/a	n/a
17	BCL11A	chr22:22230995-22231395	GM12878	blood:	n/a	chr22:22231340-22231347
18	BCL3	chr22:22292737-22293192	A549	lung:	n/a	n/a
19	BCL3	chr22:22292392-22293207	A549	lung:	n/a	n/a
20	BCLAF1	chr22:22292363-22293140	GM12878	blood:	n/a	n/a
21	BCLAF1	chr22:22292337-22292849	GM12878	blood:	n/a	n/a
22	BHLHE40	chr22:22231082-22231341	GM12878	blood:	n/a	n/a
23	BHLHE40	chr22:22256620-22257150	GM12878	blood:	n/a	n/a
24	BHLHE40	chr22:22292408-22293180	GM12878	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	chr22:22292171-22293376	K562	blood:	n/a	n/a
28	BHLHE40	chr22:22256793-22257151	HepG2	liver:	n/a	n/a
29	BHLHE40	chr22:22236465-22236474	K562	blood:	n/a	n/a
30	BRCA1	chr22:22292226-22293082	GM12878	blood:	n/a	n/a
31	BRCA1	chr22:22292443-22293184	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr22:22293444-22293447	GM12878	blood:	n/a	n/a
33	BRCA1	chr22:22231088-22231235	GM12878	blood:	n/a	n/a
34	BRCA1	chr22:22285196-22285214	GM12878	blood:	n/a	n/a
35	BRCA1	chr22:22292575-22292676	HepG2	liver:	n/a	n/a
36	BRCA1	chr22:22292942-22293146	HepG2	liver:	n/a	n/a
37	BRCA1	chr22:22280044-22280205	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr22:22292338-22292766	Hela-S3	cervix:	n/a	n/a
39	CBX3	chr22:22291602-22293845	K562	blood:	n/a	n/a
40	CBX3	chr22:22292129-22293390	K562	blood:	n/a	n/a
41	CCNT2	chr22:22274941-22274947	K562	blood:	n/a	n/a
42	CCNT2	chr22:22292041-22293483	K562	blood:	n/a	n/a
43	CCNT2	chr22:22277529-22277740	K562	blood:	n/a	n/a
44	CEBPB	chr22:22292138-22293239	K562	blood:	n/a	n/a
45	CEBPB	chr22:22272937-22273336	K562	blood:	n/a	n/a
46	CEBPB	chr22:22273057-22273156	A549	lung:	n/a	n/a
47	CEBPB	chr22:22292169-22292728	HepG2	liver:	n/a	n/a
48	CEBPB	chr22:22231008-22231459	K562	blood:	n/a	n/a
49	CEBPB	chr22:22292165-22292493	ECC-1	luminal epithelium:	n/a	n/a
50	CEBPB	chr22:22256758-22256962	HepG2	liver:	n/a	chr22:22256877-22256888

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22289520-22289570	HCM	heart:	n/a
2	chr22:22288559-22288609	NB4	blood:	n/a
3	chr22:22289520-22289570	HCM	heart:	n/a
4	chr22:22288559-22288609	NB4	blood:	n/a
5	chr22:22288473-22288523	GM19239	blood:	n/a
6	chr22:22288559-22288609	NHBE	bronchial:	n/a
7	chr22:22288473-22288523	K562	blood:	n/a
8	chr22:22292729-22292779	HCT-116	colon:	n/a
9	chr22:22292241-22292291	HRPEpiC	eye:	n/a
10	chr22:22288352-22288402	HNPCEpiC	eye:	n/a
11	chr22:22275386-22275436	H1-hESC	embryonic stem cell:	embryo
12	chr22:22292774-22292824	GM12892	blood:	n/a
13	chr22:22290866-22290916	H1-hESC	embryonic stem cell:	embryo
14	chr22:22292241-22292291	HPAEpiC	pulmonary alveolar:	n/a
15	chr22:22292241-22292291	HIPEpiC	eye:	n/a
16	chr22:22236176-22236226	HNPCEpiC	eye:	n/a
17	chr22:22288352-22288402	Jurkat	blood:	n/a
18	chr22:22288559-22288609	HUVEC	blood vessel:	n/a
19	chr22:22292729-22292779	HIPEpiC	eye:	n/a
20	chr22:22292638-22292688	ovcar-3	ovarian:	n/a
21	chr22:22288559-22288609	HCM	heart:	n/a
22	chr22:22287697-22287747	BE2_C	brain:	n/a
23	chr22:22296625-22296675	U87	brain:	n/a
24	chr22:22293118-22293168	SKMC	muscle:	n/a
25	chr22:22290866-22290916	NHDF-neo	bronchial:	n/a
26	chr22:22288559-22288609	NHDF-neo	bronchial:	n/a
27	chr22:22275386-22275436	SKMC	muscle:	n/a
28	chr22:22236176-22236226	GM19239	blood:	n/a
29	chr22:22289520-22289570	NHBE	bronchial:	n/a
30	chr22:22292774-22292824	HMEC	breast:	n/a
31	chr22:22296625-22296675	HRCEpiC	kidney:	n/a
32	chr22:22288352-22288402	A549	lung:	n/a
33	chr22:22290866-22290916	Caco-2	colon:	n/a
34	chr22:22290866-22290916	HMEC	breast:	n/a
35	chr22:22236176-22236226	K562	blood:	n/a
36	chr22:22293118-22293168	PANC-1	pancreas:	n/a
37	chr22:22288473-22288523	MCF10A-Er-Src	breast:	n/a
38	chr22:22288508-22288558	LNCaP	prostate:	n/a
39	chr22:22290866-22290916	SAEC	small airway:	n/a
40	chr22:22292774-22292824	RPTEC	kidney:	n/a
41	chr22:22275386-22275436	SK-N-SH	brain:	n/a
42	chr22:22292774-22292824	MCF10A-Er-Src	breast:	n/a
43	chr22:22236176-22236226	HMEC	breast:	n/a
44	chr22:22293118-22293168	MCF10A-Er-Src	breast:	n/a
45	chr22:22285359-22285409	ECC-1	luminal epithelium:	n/a
46	chr22:22292241-22292291	AG09309	skin:	n/a
47	chr22:22288559-22288609	HAEpiC	amniotic membrane:	n/a
48	chr22:22288473-22288523	PANC-1	pancreas:	n/a
49	chr22:22288352-22288402	HEK293	kidney:	embryo
50	chr22:22292774-22292824	NT2-D1	testis:	n/a

(count:132 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr22:22289971..22291748-chr22:22301610..22304244,2	MCF-7	breast:
2	chr22:22222094..22224055-chr22:22260389..22262322,2	K562	blood:
3	chr22:22019101..22022300-chr22:22291488..22294276,4	K562	blood:
4	chr22:22111218..22112797-chr22:22262465..22264445,2	K562	blood:
5	chr22:21996385..21999011-chr22:22290359..22293088,2	K562	blood:
6	chr22:22221699..22224052-chr22:22257209..22259214,3	K562	blood:
7	chr22:22006264..22009261-chr22:22291037..22293088,2	K562	blood:
8	chr22:22222052..22225608-chr22:22280973..22283949,4	K562	blood:
9	chr22:22234956..22237919-chr22:22251315..22254879,3	K562	blood:
10	chr22:22220022..22224970-chr22:22240093..22246115,8	K562	blood:
11	chr22:22292568..22294613-chr22:22327761..22330729,3	K562	blood:
12	chr22:21996385..21999252-chr22:22290359..22292966,2	K562	blood:
13	chr22:22067152..22067656-chr22:22271772..22272482,2	K562	blood:
14	chr22:22071322..22073400-chr22:22269185..22271638,3	K562	blood:
15	chr22:22253444..22256329-chr22:22257367..22260186,3	K562	blood:
16	chr22:22089192..22091927-chr22:22279825..22282512,2	K562	blood:
17	chr22:22249658..22252905-chr22:22259951..22263562,4	K562	blood:
18	chr22:22028092..22030504-chr22:22298642..22300750,2	K562	blood:
19	chr22:22241378..22243809-chr22:22296342..22298388,2	K562	blood:
20	chr22:22292189..22293096-chr5:43312426..43313399,2	Hela-S3	cervix:
21	chr22:22220713..22222997-chr22:22291482..22294607,4	MCF-7	breast:
22	chr22:22081098..22081614-chr22:22292958..22293509,2	MCF-7	breast:
23	chr22:22256382..22259284-chr22:22291547..22294130,2	K562	blood:
24	chr22:22088545..22090754-chr22:22292290..22294479,2	MCF-7	breast:
25	chr22:22292166..22293064-chr22:22414699..22415634,3	K562	blood:
26	chr22:22280478..22282568-chr22:22285578..22287154,2	MCF-7	breast:
27	chr22:22291801..22294589-chr22:22413617..22415961,3	K562	blood:
28	chr22:21982768..21985323-chr22:22291461..22294984,4	K562	blood:
29	chr22:22073793..22075931-chr22:22253335..22255670,2	K562	blood:
30	chr22:22215700..22218556-chr22:22295554..22298706,3	K562	blood:
31	chr22:22110435..22112750-chr22:22276025..22277904,2	K562	blood:
32	chr22:22289966..22298336-chr22:22332694..22342462,17	K562	blood:
33	chr22:22146096..22148051-chr22:22257614..22260158,2	K562	blood:
34	chr22:22218169..22225151-chr22:22299036..22308632,16	K562	blood:
35	chr22:22220394..22223080-chr22:22273867..22276195,3	K562	blood:
36	chr22:22290645..22292893-chr22:22385193..22387835,2	K562	blood:
37	chr22:22295757..22298107-chr4:82520720..82523521,2	MCF-7	breast:
38	chr22:22012894..22015753-chr22:22286806..22288838,2	K562	blood:
39	chr22:21982930..21985503-chr22:22298209..22299787,2	K562	blood:
40	chr22:22253444..22256329-chr22:22257367..22260186,3	K562	blood:
41	chr22:22257361..22259366-chr22:22260466..22262101,2	K562	blood:
42	chr22:22256470..22260039-chr22:22260822..22265830,5	K562	blood:
43	chr22:22242609..22244247-chr22:22272159..22274753,3	K562	blood:
44	chr22:22088558..22091426-chr22:22293514..22295248,2	K562	blood:
45	chr22:22220829..22223040-chr22:22255167..22256718,2	MCF-7	breast:
46	chr22:22220257..22223604-chr22:22286851..22291007,5	K562	blood:
47	chr22:22037368..22040740-chr22:22291546..22294238,3	K562	blood:
48	chr22:22055923..22058133-chr22:22298564..22300939,2	K562	blood:
49	chr22:22218339..22225021-chr22:22291070..22294784,16	K562	blood:
50	chr22:22251405..22254197-chr22:22259898..22262230,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIL2-1	chr22:22292665-22292934	NONHSAT083725
2	lnc-TOP3B-2	chr22:22292576-22292903	NONHSAT083723
3	lnc-PPIL2-1	chr22:22292609-22294263	ENSG00000224086.3
4	lnc-PPIL2-1	chr22:22292665-22293985	ENSG00000224086.3
5	lnc-PPIL2-6	chr22:22259443-22260193	NONHSAT083722
6	lnc-PPIL2-1	chr22:22295474-22297794	NONHSAT083725
7	lnc-TOP3B-2	chr22:22291334-22291588	NONHSAT083723
8	lnc-PPIL2-1	chr22:22295474-22297799	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
ENSG00000224086	CpG island
PPM1F	CpG island
ENSG00000225544	CpG island
ENSG00000100038	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000200985	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000254075	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000211637	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000254355	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000198663	chromatin interactions

Extended variants
information (count: 2892 )
Associated
traits (count: 219 )

Variant overlapped rSNPs/rCNVs (count:2892 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185779903	chr22:22228698-22228699	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs546426845	chr22:22228756-22228757	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566347365	chr22:22228764-22228765	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538420980	chr22:22228819-22228820	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558582019	chr22:22228842-22228843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs190352663	chr22:22228846-22228847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs370180935	chr22:22228850-22228851	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs182616848	chr22:22228874-22228875	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557301006	chr22:22228905-22228906	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs185470901	chr22:22228906-22228907	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375030593	chr22:22228924-22228925	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553475105	chr22:22228937-22228938	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs190848756	chr22:22228982-22228983	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551639028	chr22:22229023-22229024	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373538506	chr22:22229026-22229027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs367922034	chr22:22229067-22229068	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139688078	chr22:22229071-22229072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs73386266	chr22:22229130-22229131	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567535490	chr22:22229139-22229140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577246202	chr22:22229141-22229142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs544687172	chr22:22229152-22229153	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs79840579	chr22:22229153-22229154	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs529609188	chr22:22229155-22229156	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs546314484	chr22:22229160-22229161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs145278861	chr22:22229198-22229199	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs9610518	chr22:22229207-22229208	Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183924987	chr22:22229235-22229236	Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs75494896	chr22:22229374-22229375	Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs375311872	chr22:22229387-22229388	Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs552342528	chr22:22229456-22229457	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs569083308	chr22:22229458-22229459	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs140304529	chr22:22229472-22229473	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34068968	chr22:22229473-22229474	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs398036584	chr22:22229496-22229497	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs5755817	chr22:22229501-22229502	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs538126250	chr22:22229521-22229522	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs5755819	chr22:22229528-22229529	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs548149772	chr22:22229550-22229551	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs188921190	chr22:22229554-22229555	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs7285744	chr22:22229651-22229652	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148043897	chr22:22229663-22229664	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs533056608	chr22:22229668-22229669	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs111585601	chr22:22229735-22229736	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs5755826	chr22:22229788-22229789	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11703710	chr22:22229807-22229808	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs140899162	chr22:22229836-22229837	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550964889	chr22:22229843-22229844	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs567604230	chr22:22229865-22229866	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536601804	chr22:22229918-22229919	Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553512271	chr22:22229944-22229945	Strong transcription Enhancers	Chromatin interactive region	2 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:1773 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22222600-22229200	Weak transcription	Right Atrium	heart
2	chr22:22229200-22230800	Strong transcription	Right Atrium	heart
3	chr22:22229400-22230800	Enhancers	K562	blood
4	chr22:22230000-22232400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr22:22230200-22231000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr22:22230400-22231000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr22:22230400-22231600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:22230400-22231600	Enhancers	Hela-S3	cervix
9	chr22:22230600-22231000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr22:22230600-22231600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:22230800-22231200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:22230800-22231200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr22:22230800-22231200	Enhancers	Spleen	Spleen
14	chr22:22230800-22231200	Flanking Active TSS	K562	blood
15	chr22:22230800-22231200	Enhancers	NH-A	brain
16	chr22:22230800-22231400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:22230800-22231400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr22:22230800-22231400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr22:22230800-22231400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr22:22230800-22231400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:22230800-22231400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr22:22230800-22231400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:22230800-22231400	Enhancers	GM12878-XiMat	blood
24	chr22:22230800-22231400	Enhancers	NHDF-Ad	bronchial
25	chr22:22230800-22231600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:22230800-22231600	Enhancers	Primary hematopoietic stem cells	blood
27	chr22:22230800-22231600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr22:22230800-22231600	Enhancers	Osteobl	bone
29	chr22:22230800-22231800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:22230800-22231800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr22:22230800-22231800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr22:22230800-22232400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr22:22230800-22234800	Weak transcription	Right Atrium	heart
34	chr22:22231000-22231200	Enhancers	Aorta	Aorta
35	chr22:22231000-22231400	Enhancers	Primary B cells from cord blood	blood
36	chr22:22231000-22231400	Enhancers	Primary T cells from cord blood	blood
37	chr22:22231000-22231400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:22231000-22231400	Enhancers	Fetal Lung	lung
39	chr22:22231000-22231400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr22:22231200-22231400	Enhancers	K562	blood
41	chr22:22231400-22231600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:22234800-22235800	Strong transcription	Right Atrium	heart
43	chr22:22235800-22236600	Bivalent Enhancer	K562	blood
44	chr22:22235800-22258400	Weak transcription	Right Atrium	heart
45	chr22:22236400-22237200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr22:22236400-22237200	Enhancers	HepG2	liver
47	chr22:22236600-22237000	Enhancers	K562	blood
48	chr22:22237000-22237200	Flanking Active TSS	K562	blood
49	chr22:22237200-22237400	Enhancers	K562	blood
50	chr22:22243600-22244000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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