Variant report

Variant	nsv1060252
Chromosome Location	chr22:22272229-22335705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3025)
CpG islands
(count:1893)
Chromatin interactive
region (count:182)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3025 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

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	chr22:22302093-22302226	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:22302000-22302519	K562	blood:	n/a	n/a
4	ARID3A	chr22:22292407-22293273	K562	blood:	n/a	n/a
5	ARID3A	chr22:22306577-22306630	HepG2	liver:	n/a	n/a
6	ARID3A	chr22:22307263-22307486	K562	blood:	n/a	n/a
7	ARID3A	chr22:22307655-22307768	HepG2	liver:	n/a	n/a
8	ATF2	chr22:22292364-22293180	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr22:22328320-22329148	K562	blood:	n/a	n/a
10	ATF3	chr22:22326711-22327539	K562	blood:	n/a	n/a
11	ATF3	chr22:22306866-22307977	K562	blood:	n/a	n/a
12	ATF3	chr22:22282384-22282756	K562	blood:	n/a	n/a
13	ATF3	chr22:22292081-22293278	K562	blood:	n/a	n/a
14	BACH1	chr22:22292333-22293152	K562	blood:	n/a	n/a
15	BACH1	chr22:22292421-22293206	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr22:22307058-22307324	K562	blood:	n/a	n/a
17	BACH1	chr22:22301982-22302288	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr22:22307119-22307441	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr22:22292460-22292722	GM12878	blood:	n/a	n/a
20	BCL3	chr22:22320187-22321216	K562	blood:	n/a	n/a
21	BCL3	chr22:22292737-22293192	A549	lung:	n/a	n/a
22	BCL3	chr22:22292392-22293207	A549	lung:	n/a	n/a
23	BCL3	chr22:22313952-22315920	K562	blood:	n/a	chr22:22315179-22315192 chr22:22315274-22315283 chr22:22315390-22315399
24	BCLAF1	chr22:22292337-22292849	GM12878	blood:	n/a	n/a
25	BCLAF1	chr22:22292363-22293140	GM12878	blood:	n/a	n/a
26	BCLAF1	chr22:22307022-22307505	GM12878	blood:	n/a	n/a
27	BHLHE40	chr22:22328626-22328822	K562	blood:	n/a	n/a
28	BHLHE40	chr22:22326701-22326993	K562	blood:	n/a	n/a
29	BHLHE40	chr22:22307024-22307474	GM12878	blood:	n/a	chr22:22307216-22307232
30	BHLHE40	chr22:22301242-22302464	K562	blood:	n/a	n/a
31	BHLHE40	chr22:22306971-22307800	K562	blood:	n/a	chr22:22307216-22307232
32	BHLHE40	chr22:22292171-22293376	K562	blood:	n/a	n/a
33	BHLHE40	chr22:22290696-22291118	K562	blood:	n/a	n/a
34	BHLHE40	chr22:22292408-22293180	GM12878	blood:	n/a	n/a
35	BHLHE40	chr22:22306452-22306681	K562	blood:	n/a	n/a
36	BRCA1	chr22:22292226-22293082	GM12878	blood:	n/a	n/a
37	BRCA1	chr22:22292443-22293184	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr22:22307265-22307461	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr22:22306220-22306226	HepG2	liver:	n/a	n/a
40	BRCA1	chr22:22292575-22292676	HepG2	liver:	n/a	n/a
41	BRCA1	chr22:22292942-22293146	HepG2	liver:	n/a	n/a
42	BRCA1	chr22:22280044-22280205	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr22:22292338-22292766	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr22:22307211-22307385	H1-hESC	embryonic stem cell:	n/a	n/a
45	BRCA1	chr22:22293444-22293447	GM12878	blood:	n/a	n/a
46	BRCA1	chr22:22285196-22285214	GM12878	blood:	n/a	n/a
47	CBX3	chr22:22291602-22293845	K562	blood:	n/a	n/a
48	CBX3	chr22:22305972-22306743	K562	blood:	n/a	n/a
49	CBX3	chr22:22292129-22293390	K562	blood:	n/a	n/a
50	CBX3	chr22:22305316-22305720	K562	blood:	n/a	n/a

(count:1893 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22315643-22315693	NT2-D1	testis:	n/a
2	chr22:22288352-22288402	HMEC	breast:	n/a
3	chr22:22315643-22315693	NT2-D1	testis:	n/a
4	chr22:22288352-22288402	HMEC	breast:	n/a
5	chr22:22307573-22307623	Hela-S3	cervix:	n/a
6	chr22:22307371-22307421	U87	brain:	n/a
7	chr22:22307395-22307445	MCF10A-Er-Src	breast:	n/a
8	chr22:22307378-22307428	AG04450	lung:	fetal
9	chr22:22309769-22309819	A549	lung:	n/a
10	chr22:22307070-22307120	GM12878	blood:	n/a
11	chr22:22296625-22296675	LNCaP	prostate:	n/a
12	chr22:22307371-22307421	H1-hESC	embryonic stem cell:	embryo
13	chr22:22307573-22307623	GM19239	blood:	n/a
14	chr22:22288559-22288609	ovcar-3	ovarian:	n/a
15	chr22:22307482-22307532	Hepatocyte	liver:	n/a
16	chr22:22293118-22293168	HNPCEpiC	eye:	n/a
17	chr22:22311698-22311748	H1-hESC	embryonic stem cell:	embryo
18	chr22:22307684-22307734	GM06990	blood:	n/a
19	chr22:22307070-22307120	HMEC	breast:	n/a
20	chr22:22288473-22288523	GM12892	blood:	n/a
21	chr22:22302600-22302650	SK-N-SH	brain:	n/a
22	chr22:22290866-22290916	AG09319	gingival:	n/a
23	chr22:22288559-22288609	NT2-D1	testis:	n/a
24	chr22:22309769-22309819	HEK293	kidney:	embryo
25	chr22:22307395-22307445	ovcar-3	ovarian:	n/a
26	chr22:22312957-22313007	AG10803	skin:	n/a
27	chr22:22288559-22288609	NH-A	brain:	n/a
28	chr22:22307070-22307120	GM06990	blood:	n/a
29	chr22:22285359-22285409	LNCaP	prostate:	n/a
30	chr22:22287697-22287747	PANC-1	pancreas:	n/a
31	chr22:22306651-22306701	T-47D	breast:	n/a
32	chr22:22307395-22307445	GM12892	blood:	n/a
33	chr22:22307378-22307428	ovcar-3	ovarian:	n/a
34	chr22:22315643-22315693	AG09319	gingival:	n/a
35	chr22:22292638-22292688	AoSMC	blood vessel:	n/a
36	chr22:22306651-22306701	AG04450	lung:	fetal
37	chr22:22334553-22334603	H1-hESC	embryonic stem cell:	embryo
38	chr22:22309769-22309819	IMR90	lung:	fetal
39	chr22:22309769-22309819	AG09319	gingival:	n/a
40	chr22:22293118-22293168	HEEpiC	esophagus:	n/a
41	chr22:22307070-22307120	AG04449	skin:	fetal
42	chr22:22306263-22306313	AG09309	skin:	n/a
43	chr22:22311698-22311748	HPAEpiC	pulmonary alveolar:	n/a
44	chr22:22288508-22288558	NHBE	bronchial:	n/a
45	chr22:22307395-22307445	HEK293	kidney:	embryo
46	chr22:22307371-22307421	BE2_C	brain:	n/a
47	chr22:22292241-22292291	SKMC	muscle:	n/a
48	chr22:22292774-22292824	HCT-116	colon:	n/a
49	chr22:22307371-22307421	HEEpiC	esophagus:	n/a
50	chr22:22292729-22292779	U87	brain:	n/a

(count:182 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr22:22290671..22292913-chr22:22304916..22307695,3	MCF-7	breast:
2	chr22:22215700..22218556-chr22:22295554..22298706,3	K562	blood:
3	chr22:22005749..22007465-chr22:22293364..22295229,2	K562	blood:
4	chr22:22303827..22304626-chr22:22326823..22327382,2	K562	blood:
5	chr22:22325561..22328357-chr22:22328801..22330447,2	MCF-7	breast:
6	chr22:22015152..22017176-chr22:22303779..22306519,2	K562	blood:
7	chr22:22015676..22017978-chr22:22303779..22306015,2	K562	blood:
8	chr22:22291063..22292706-chr22:22313114..22314633,2	K562	blood:
9	chr22:22088520..22091543-chr22:22318194..22320704,3	K562	blood:
10	chr22:22329308..22331029-chr22:22335214..22337114,2	MCF-7	breast:
11	chr22:22292079..22293713-chr22:22306781..22307947,29	K562	blood:
12	chr22:22019913..22020714-chr22:22292936..22293527,2	K562	blood:
13	chr22:22291464..22293326-chr22:22305978..22308201,2	MCF-7	breast:
14	chr22:21996454..21998560-chr22:22301298..22303661,2	K562	blood:
15	chr22:22292070..22293697-chr22:22300818..22303043,18	K562	blood:
16	chr22:22220394..22223080-chr22:22273867..22276195,3	K562	blood:
17	chr22:22251681..22254057-chr22:22299774..22302552,2	K562	blood:
18	chr22:22292610..22297899-chr22:22316736..22322432,6	K562	blood:
19	chr22:22328328..22330386-chr22:22400402..22403039,2	K562	blood:
20	chr22:22141717..22144445-chr22:22332319..22334785,2	K562	blood:
21	chr22:22089169..22091453-chr22:22299864..22302320,3	K562	blood:
22	chr22:22335671..22337946-chr22:22899521..22901593,2	K562	blood:
23	chr22:22326562..22327268-chr22:22335793..22337003,3	K562	blood:
24	chr22:22259830..22262116-chr22:22275142..22276644,2	K562	blood:
25	chr22:22291707..22294409-chr22:22295547..22298448,3	MCF-7	breast:
26	chr22:22306115..22309049-chr22:22314797..22317582,3	MCF-7	breast:
27	chr22:22286538..22290213-chr22:22291627..22293821,3	MCF-7	breast:
28	chr22:22282048..22284001-chr22:22320805..22323997,3	K562	blood:
29	chr22:22306982..22308543-chr22:22325097..22327409,2	MCF-7	breast:
30	chr22:22018198..22021286-chr22:22305755..22308523,3	K562	blood:
31	chr22:22022905..22026953-chr22:22292276..22294623,3	K562	blood:
32	chr22:22218169..22225151-chr22:22299036..22308632,16	K562	blood:
33	chr22:22281349..22281887-chr22:22292484..22293029,2	K562	blood:
34	chr22:22312865..22314736-chr22:22395820..22398625,2	K562	blood:
35	chr22:22068299..22069266-chr22:22301656..22302231,2	K562	blood:
36	chr22:22089192..22091927-chr22:22279825..22282512,2	K562	blood:
37	chr22:22129393..22132158-chr22:22299862..22301892,2	K562	blood:
38	chr22:22131249..22133599-chr22:22302494..22304586,2	K562	blood:
39	chr22:22220257..22223604-chr22:22286851..22291007,5	K562	blood:
40	chr22:22080051..22081735-chr22:22313495..22315622,2	K562	blood:
41	chr22:22149149..22152103-chr22:22281667..22284130,2	K562	blood:
42	chr22:22053698..22055287-chr22:22332085..22334698,2	K562	blood:
43	chr22:22307132..22307792-chr22:22336951..22337632,2	K562	blood:
44	chr22:22299166..22301404-chr22:22302950..22305296,2	MCF-7	breast:
45	chr22:22307185..22307826-chr22:22315287..22316233,2	K562	blood:
46	chr22:22292154..22292772-chr22:22301837..22302500,2	MCF-7	breast:
47	chr22:22317246..22319582-chr22:22522243..22523920,2	K562	blood:
48	chr22:19108558..19111368-chr22:22312314..22314926,2	K562	blood:
49	chr22:22291801..22294589-chr22:22413617..22415961,3	K562	blood:
50	chr22:22221788..22224582-chr22:22300522..22304100,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIL2-1	chr22:22295474-22297799	ENSG00000224086.3
2	lnc-PPIL2-1	chr22:22292665-22293985	ENSG00000224086.3
3	lnc-TOP3B-2	chr22:22292576-22292903	NONHSAT083723
4	lnc-PPIL2-1	chr22:22292665-22292934	NONHSAT083725
5	lnc-PPIL2-1	chr22:22292609-22294263	ENSG00000224086.3
6	lnc-TOP3B-2	chr22:22291334-22291588	NONHSAT083723
7	lnc-PPIL2-1	chr22:22295474-22297794	NONHSAT083725

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
TOP3B	TF binding region
ENSG00000224086	TF binding region
PPM1F	TF binding region
TOP3B	CpG island
ENSG00000224086	CpG island
PPM1F	CpG island
ENSG00000227710	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000228161	chromatin interactions
ENSG00000070413	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000253239	chromatin interactions
ENSG00000253823	chromatin interactions
ENSG00000254355	chromatin interactions
ENSG00000205542	chromatin interactions
ENSG00000197549	chromatin interactions
ENSG00000253794	chromatin interactions
ENSG00000211637	chromatin interactions
ENSG00000272954	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000198663	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000254075	chromatin interactions
ENSG00000223461	chromatin interactions

Extended variants
information (count: 2719 )
Associated
traits (count: 217 )

Variant overlapped rSNPs/rCNVs (count:2719 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5995209	chr22:22272229-22272230	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541229975	chr22:22272235-22272236	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs561760850	chr22:22272242-22272243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs35874728	chr22:22272264-22272265	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527478489	chr22:22272287-22272288	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182425806	chr22:22272292-22272293	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186115375	chr22:22272295-22272296	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs533009351	chr22:22272340-22272341	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs6000105	chr22:22272354-22272355	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568879066	chr22:22272404-22272405	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140261663	chr22:22272414-22272415	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548643875	chr22:22272416-22272417	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564414805	chr22:22272420-22272421	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9607399	chr22:22272450-22272451	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554367037	chr22:22272467-22272468	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs240059	chr22:22272493-22272494	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs144051923	chr22:22272536-22272537	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556228828	chr22:22272548-22272549	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575969166	chr22:22272597-22272598	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151083095	chr22:22272628-22272629	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563681177	chr22:22272660-22272661	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555430597	chr22:22272684-22272685	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376559172	chr22:22272700-22272701	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540829994	chr22:22272703-22272704	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563909917	chr22:22272726-22272727	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9610608	chr22:22272737-22272738	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs143712565	chr22:22272823-22272824	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs543299062	chr22:22272870-22272871	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs560335992	chr22:22272883-22272884	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182972039	chr22:22272915-22272916	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs200903240	chr22:22272916-22272917	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs548435067	chr22:22272920-22272921	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs568553636	chr22:22272924-22272925	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs74278043	chr22:22272929-22272930	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs527741472	chr22:22272930-22272931	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs548034620	chr22:22272967-22272968	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs187306617	chr22:22272993-22272994	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs548968807	chr22:22273009-22273010	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540162744	chr22:22273029-22273030	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191596985	chr22:22273050-22273051	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56021049	chr22:22273058-22273059	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs535135236	chr22:22273060-22273061	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555016309	chr22:22273066-22273067	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113181866	chr22:22273115-22273116	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546778370	chr22:22273145-22273146	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560567112	chr22:22273161-22273162	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577395284	chr22:22273199-22273200	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543360393	chr22:22273219-22273220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563590084	chr22:22273220-22273221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375487631	chr22:22273223-22273224	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:217)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3239 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22256600-22273600	Weak transcription	Lung	lung
2	chr22:22257000-22277600	Weak transcription	Aorta	Aorta
3	chr22:22257200-22273400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:22257600-22273400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:22258800-22274400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr22:22267000-22273400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr22:22268800-22273600	Weak transcription	Primary T cells from cord blood	blood
8	chr22:22269200-22274800	Weak transcription	Fetal Intestine Small	intestine
9	chr22:22270000-22272600	Enhancers	Fetal Muscle Trunk	muscle
10	chr22:22270000-22275800	Weak transcription	Fetal Brain Male	brain
11	chr22:22270200-22274400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr22:22270400-22272600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:22270400-22272800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:22270600-22272600	Enhancers	Ovary	ovary
15	chr22:22270600-22272600	Enhancers	Pancreas	Pancrea
16	chr22:22270600-22276600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr22:22270800-22273000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:22270800-22274400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:22271000-22272400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:22271000-22272600	Enhancers	Fetal Muscle Leg	muscle
21	chr22:22271000-22273000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr22:22271200-22272400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:22271200-22272400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr22:22271200-22272400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:22271200-22272400	Enhancers	Brain Cingulate Gyrus	brain
26	chr22:22271200-22272400	Enhancers	Brain Substantia Nigra	brain
27	chr22:22271200-22272600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr22:22271200-22272600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr22:22271200-22273400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr22:22271400-22272400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr22:22271400-22272400	Flanking Active TSS	HepG2	liver
32	chr22:22271400-22272600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr22:22271400-22272600	Enhancers	Brain Anterior Caudate	brain
34	chr22:22271400-22272600	Enhancers	Fetal Heart	heart
35	chr22:22271600-22272400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr22:22271600-22272400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr22:22271600-22272400	Enhancers	Right Ventricle	heart
38	chr22:22271600-22272400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr22:22271600-22272400	Enhancers	HSMM	muscle
40	chr22:22271600-22272400	Enhancers	HSMMtube	muscle
41	chr22:22271600-22272400	Enhancers	K562	blood
42	chr22:22271600-22272600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:22271600-22272600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:22271600-22272600	Enhancers	Brain Hippocampus Middle	brain
45	chr22:22271600-22272600	Enhancers	Gastric	stomach
46	chr22:22271600-22272600	Enhancers	Spleen	Spleen
47	chr22:22271600-22272800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr22:22271600-22273400	Weak transcription	Fetal Brain Female	brain
49	chr22:22271800-22272400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr22:22271800-22272400	Enhancers	Left Ventricle	heart

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