Variant report

Variant	nsv1056286
Chromosome Location	chr22:22248117-22298366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1390)
CpG islands
(count:918)
Chromatin interactive
region (count:114)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1390 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22256741-22256833	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:22292407-22293273	K562	blood:	n/a	n/a
3	ARID3A	chr22:22292460-22293156	HepG2	liver:	n/a	n/a
4	ATF1	chr22:22264747-22264931	K562	blood:	n/a	n/a
5	ATF2	chr22:22292364-22293180	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr22:22282384-22282756	K562	blood:	n/a	n/a
7	ATF3	chr22:22292081-22293278	K562	blood:	n/a	n/a
8	BACH1	chr22:22292421-22293206	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr22:22292333-22293152	K562	blood:	n/a	n/a
10	BATF	chr22:22292460-22292722	GM12878	blood:	n/a	n/a
11	BCL3	chr22:22292737-22293192	A549	lung:	n/a	n/a
12	BCL3	chr22:22292392-22293207	A549	lung:	n/a	n/a
13	BCLAF1	chr22:22292363-22293140	GM12878	blood:	n/a	n/a
14	BCLAF1	chr22:22292337-22292849	GM12878	blood:	n/a	n/a
15	BHLHE40	chr22:22292171-22293376	K562	blood:	n/a	n/a
16	BHLHE40	chr22:22256620-22257150	GM12878	blood:	n/a	n/a
17	BHLHE40	chr22:22290696-22291118	K562	blood:	n/a	n/a
18	BHLHE40	chr22:22256777-22257151	K562	blood:	n/a	n/a
19	BHLHE40	chr22:22256793-22257151	HepG2	liver:	n/a	n/a
20	BHLHE40	chr22:22292408-22293180	GM12878	blood:	n/a	n/a
21	BRCA1	chr22:22292226-22293082	GM12878	blood:	n/a	n/a
22	BRCA1	chr22:22292575-22292676	HepG2	liver:	n/a	n/a
23	BRCA1	chr22:22280044-22280205	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr22:22285196-22285214	GM12878	blood:	n/a	n/a
25	BRCA1	chr22:22292443-22293184	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr22:22292942-22293146	HepG2	liver:	n/a	n/a
27	BRCA1	chr22:22292338-22292766	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr22:22293444-22293447	GM12878	blood:	n/a	n/a
29	CBX3	chr22:22292129-22293390	K562	blood:	n/a	n/a
30	CBX3	chr22:22291602-22293845	K562	blood:	n/a	n/a
31	CCNT2	chr22:22274941-22274947	K562	blood:	n/a	n/a
32	CCNT2	chr22:22277529-22277740	K562	blood:	n/a	n/a
33	CCNT2	chr22:22292041-22293483	K562	blood:	n/a	n/a
34	CEBPB	chr22:22256703-22257112	HepG2	liver:	n/a	chr22:22256877-22256888
35	CEBPB	chr22:22272982-22273272	K562	blood:	n/a	n/a
36	CEBPB	chr22:22290906-22291042	A549	lung:	n/a	n/a
37	CEBPB	chr22:22292193-22292499	A549	lung:	n/a	n/a
38	CEBPB	chr22:22256729-22257029	K562	blood:	n/a	chr22:22256877-22256888
39	CEBPB	chr22:22256749-22257008	IMR90	lung:	n/a	chr22:22256877-22256888
40	CEBPB	chr22:22292171-22293214	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr22:22292117-22292815	A549	lung:	n/a	n/a
42	CEBPB	chr22:22292098-22293389	K562	blood:	n/a	n/a
43	CEBPB	chr22:22292165-22292493	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr22:22292141-22293184	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr22:22256741-22257039	HepG2	liver:	n/a	chr22:22256877-22256888
46	CEBPB	chr22:22292047-22292686	IMR90	lung:	n/a	n/a
47	CEBPB	chr22:22272937-22273336	K562	blood:	n/a	n/a
48	CEBPB	chr22:22256603-22257078	K562	blood:	n/a	chr22:22256877-22256888
49	CEBPB	chr22:22290751-22291175	K562	blood:	n/a	n/a
50	CEBPB	chr22:22292169-22292728	HepG2	liver:	n/a	n/a

(count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22288352-22288402	HCF	heart:	n/a
2	chr22:22289520-22289570	GM12878	blood:	n/a
3	chr22:22296625-22296675	ovcar-3	ovarian:	n/a
4	chr22:22288352-22288402	HCF	heart:	n/a
5	chr22:22289520-22289570	GM12878	blood:	n/a
6	chr22:22296625-22296675	ovcar-3	ovarian:	n/a
7	chr22:22288559-22288609	HL-60	blood:	n/a
8	chr22:22290866-22290916	BE2_C	brain:	n/a
9	chr22:22288473-22288523	PrEC	prostate:	n/a
10	chr22:22292241-22292291	HRE	kidney:	n/a
11	chr22:22292774-22292824	SK-N-MC	brain:	n/a
12	chr22:22288508-22288558	ProgFib	skin:	n/a
13	chr22:22293118-22293168	GM19239	blood:	n/a
14	chr22:22292638-22292688	RPTEC	kidney:	n/a
15	chr22:22292729-22292779	GM06990	blood:	n/a
16	chr22:22288352-22288402	CMK	blood:	n/a
17	chr22:22292241-22292291	ECC-1	luminal epithelium:	n/a
18	chr22:22288508-22288558	GM06990	blood:	n/a
19	chr22:22275386-22275436	CMK	blood:	n/a
20	chr22:22292729-22292779	NH-A	brain:	n/a
21	chr22:22290866-22290916	GM12891	blood:	n/a
22	chr22:22292729-22292779	AoSMC	blood vessel:	n/a
23	chr22:22287697-22287747	HAEpiC	amniotic membrane:	n/a
24	chr22:22290866-22290916	RPTEC	kidney:	n/a
25	chr22:22290866-22290916	IMR90	lung:	fetal
26	chr22:22288508-22288558	AG10803	skin:	n/a
27	chr22:22288508-22288558	HCF	heart:	n/a
28	chr22:22292241-22292291	SK-N-MC	brain:	n/a
29	chr22:22296625-22296675	NB4	blood:	n/a
30	chr22:22292638-22292688	U87	brain:	n/a
31	chr22:22288352-22288402	BJ	skin:	n/a
32	chr22:22275386-22275436	HIPEpiC	eye:	n/a
33	chr22:22288473-22288523	HepG2	liver:	n/a
34	chr22:22292241-22292291	AG04450	lung:	fetal
35	chr22:22285359-22285409	K562	blood:	n/a
36	chr22:22292774-22292824	ProgFib	skin:	n/a
37	chr22:22289520-22289570	T-47D	breast:	n/a
38	chr22:22275386-22275436	AG09319	gingival:	n/a
39	chr22:22296625-22296675	AoSMC	blood vessel:	n/a
40	chr22:22293118-22293168	U87	brain:	n/a
41	chr22:22289520-22289570	CMK	blood:	n/a
42	chr22:22288559-22288609	HRE	kidney:	n/a
43	chr22:22292241-22292291	T-47D	breast:	n/a
44	chr22:22292241-22292291	U87	brain:	n/a
45	chr22:22287697-22287747	GM19239	blood:	n/a
46	chr22:22288508-22288558	HL-60	blood:	n/a
47	chr22:22285359-22285409	HCM	heart:	n/a
48	chr22:22292241-22292291	SK-N-SH	brain:	n/a
49	chr22:22288559-22288609	SAEC	small airway:	n/a
50	chr22:22290866-22290916	GM12878	blood:	n/a

(count:114 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr22:22259830..22262116-chr22:22275142..22276644,2	K562	blood:
2	chr22:22220257..22223604-chr22:22286851..22291007,5	K562	blood:
3	chr22:22220811..22224762-chr22:22260599..22264314,3	MCF-7	breast:
4	chr22:22251681..22254057-chr22:22299774..22302552,2	K562	blood:
5	chr22:22255129..22259166-chr22:22267129..22272472,7	K562	blood:
6	chr22:22037368..22040740-chr22:22291546..22294238,3	K562	blood:
7	chr22:22292249..22292768-chr6:36853269..36853777,2	K562	blood:
8	chr22:22130737..22132240-chr22:22289657..22292393,2	K562	blood:
9	chr22:22067689..22069822-chr22:22273194..22275247,2	K562	blood:
10	chr22:22292721..22294523-chr22:22322967..22324899,2	K562	blood:
11	chr22:22218984..22224022-chr22:22257246..22266151,10	K562	blood:
12	chr22:22221035..22223195-chr22:22267971..22269514,2	K562	blood:
13	chr22:22254209..22256329-chr22:22258681..22261497,3	K562	blood:
14	chr22:22088558..22091426-chr22:22293514..22295248,2	K562	blood:
15	chr22:21982930..21985503-chr22:22298209..22299787,2	K562	blood:
16	chr22:22149149..22152103-chr22:22281667..22284130,2	K562	blood:
17	chr22:22296163..22299761-chr22:22300679..22303627,3	MCF-7	breast:
18	chr22:22130696..22132847-chr22:22280604..22282994,2	K562	blood:
19	chr22:22241135..22242732-chr22:22247285..22249362,2	K562	blood:
20	chr22:22256470..22260039-chr22:22260822..22265830,5	K562	blood:
21	chr22:22292610..22297899-chr22:22316736..22322432,6	K562	blood:
22	chr22:22087956..22092439-chr22:22291559..22296073,7	K562	blood:
23	chr22:22257361..22259366-chr22:22260466..22262101,2	K562	blood:
24	chr22:22012894..22015753-chr22:22286806..22288838,2	K562	blood:
25	chr22:22292189..22293096-chr5:43312426..43313399,2	Hela-S3	cervix:
26	chr22:22213474..22215679-chr22:22295559..22297905,2	K562	blood:
27	chr22:21976586..21979474-chr22:22290804..22292395,2	K562	blood:
28	chr22:22019101..22022300-chr22:22291488..22294276,4	K562	blood:
29	chr22:22221197..22223179-chr22:22279633..22282369,2	K562	blood:
30	chr22:22256470..22260039-chr22:22260822..22265830,5	K562	blood:
31	chr22:22249618..22251729-chr22:22257192..22258847,2	K562	blood:
32	chr22:22221699..22224052-chr22:22257209..22259214,3	K562	blood:
33	chr22:22216648..22219566-chr22:22250661..22254225,3	K562	blood:
34	chr22:22256382..22259284-chr22:22291547..22294130,2	K562	blood:
35	chr22:22006832..22007456-chr22:22292539..22293060,2	K562	blood:
36	chr22:22257361..22259366-chr22:22260466..22262101,2	K562	blood:
37	chr22:22242609..22244247-chr22:22272159..22274753,3	K562	blood:
38	chr22:22214377..22217269-chr22:22270465..22272236,2	K562	blood:
39	chr22:22289971..22291748-chr22:22301610..22304244,2	MCF-7	breast:
40	chr22:22291464..22293326-chr22:22305978..22308201,2	MCF-7	breast:
41	chr22:22218339..22225021-chr22:22291070..22294784,16	K562	blood:
42	chr22:22291801..22294589-chr22:22413617..22415961,3	K562	blood:
43	chr22:22071322..22073400-chr22:22269185..22271638,3	K562	blood:
44	chr22:22219487..22221204-chr22:22258463..22261440,2	K562	blood:
45	chr22:22088545..22090754-chr22:22292290..22294479,2	MCF-7	breast:
46	chr22:22251405..22254197-chr22:22259898..22262230,2	K562	blood:
47	chr22:22281349..22281887-chr22:22292484..22293029,2	K562	blood:
48	chr22:22108841..22110548-chr22:22265297..22267699,2	K562	blood:
49	chr22:22253444..22256329-chr22:22257367..22260186,3	K562	blood:
50	chr22:21996385..21999011-chr22:22290359..22293088,2	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	chr22:22291334-22291588	NONHSAT083723
3	lnc-PPIL2-1	chr22:22292665-22293985	ENSG00000224086.3
4	lnc-PPIL2-1	chr22:22295474-22297799	ENSG00000224086.3
5	lnc-TOP3B-2	chr22:22292576-22292903	NONHSAT083723
6	lnc-PPIL2-1	chr22:22292609-22294263	ENSG00000224086.3
7	lnc-PPIL2-1	chr22:22295474-22297794	NONHSAT083725
8	lnc-PPIL2-6	chr22:22259443-22260193	NONHSAT083722

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
ENSG00000224086	CpG island
PPM1F	CpG island
ENSG00000100034	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000211637	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000254075	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000198663	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000254355	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000200985	chromatin interactions

Extended variants
information (count: 2089 )
Associated
traits (count: 217 )

Variant overlapped rSNPs/rCNVs (count:2089 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533356106	chr22:22248181-22248182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183561642	chr22:22248182-22248183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187319285	chr22:22248184-22248185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530586634	chr22:22248189-22248190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577871918	chr22:22248193-22248194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375308899	chr22:22248253-22248254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5995170	chr22:22248308-22248309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs137994277	chr22:22248325-22248326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191854027	chr22:22248360-22248361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55936449	chr22:22248369-22248370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376707333	chr22:22248391-22248392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566036129	chr22:22248399-22248400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370048658	chr22:22248444-22248445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535125511	chr22:22248450-22248451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142537839	chr22:22248451-22248452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144814550	chr22:22248460-22248461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537231576	chr22:22248487-22248488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138181617	chr22:22248515-22248516	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs183981451	chr22:22248586-22248587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543266348	chr22:22248587-22248588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548932247	chr22:22248722-22248723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559014856	chr22:22248776-22248777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34777733	chr22:22248780-22248781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149336248	chr22:22248832-22248833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565721554	chr22:22248833-22248834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572480875	chr22:22248846-22248847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544722675	chr22:22248869-22248870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564624788	chr22:22248873-22248874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575126721	chr22:22248886-22248887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188169483	chr22:22248942-22248943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192172203	chr22:22248943-22248944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144416989	chr22:22248945-22248946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185772694	chr22:22248952-22248953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559807399	chr22:22248960-22248961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148404886	chr22:22248993-22248994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540449661	chr22:22248998-22248999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571767530	chr22:22249199-22249200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143484731	chr22:22249201-22249202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147171672	chr22:22249243-22249244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557820877	chr22:22249254-22249255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567801542	chr22:22249283-22249284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553530671	chr22:22249333-22249334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528330546	chr22:22249340-22249341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536568438	chr22:22249391-22249392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140427010	chr22:22249430-22249431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144815692	chr22:22249450-22249451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538226741	chr22:22249482-22249483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374810942	chr22:22249519-22249520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558275321	chr22:22249520-22249521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114297535	chr22:22249534-22249535	Weak transcription	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1659 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22235800-22258400	Weak transcription	Right Atrium	heart
2	chr22:22254600-22254800	Enhancers	HepG2	liver
3	chr22:22254600-22258800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr22:22254800-22256600	Weak transcription	HepG2	liver
5	chr22:22255800-22271000	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:22256000-22267000	Weak transcription	Brain Anterior Caudate	brain
7	chr22:22256200-22271200	Weak transcription	Fetal Stomach	stomach
8	chr22:22256200-22271600	Weak transcription	Brain Germinal Matrix	brain
9	chr22:22256400-22257200	Enhancers	Placenta	Placenta
10	chr22:22256400-22257400	Enhancers	GM12878-XiMat	blood
11	chr22:22256600-22257400	Enhancers	HepG2	liver
12	chr22:22256600-22261000	Weak transcription	Left Ventricle	heart
13	chr22:22256600-22273600	Weak transcription	Lung	lung
14	chr22:22256800-22258400	Weak transcription	Right Ventricle	heart
15	chr22:22256800-22258400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr22:22256800-22271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:22257000-22257400	Bivalent Enhancer	K562	blood
18	chr22:22257000-22258600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr22:22257000-22277600	Weak transcription	Aorta	Aorta
20	chr22:22257200-22262600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:22257200-22273400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:22257400-22257600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr22:22257600-22258600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:22257600-22270000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr22:22257600-22271200	Weak transcription	Adipose Nuclei	Adipose
26	chr22:22257600-22273400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr22:22258400-22258600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:22258400-22258800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:22258400-22258800	Weak transcription	Spleen	Spleen
30	chr22:22258400-22259200	Strong transcription	Right Atrium	heart
31	chr22:22258400-22259200	Strong transcription	Right Ventricle	heart
32	chr22:22258400-22259200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr22:22258600-22259200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr22:22258600-22271600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:22258800-22259000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
36	chr22:22258800-22259200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:22258800-22259200	Genic enhancers	Spleen	Spleen
38	chr22:22258800-22274400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr22:22259000-22271600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr22:22259200-22263600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr22:22259200-22269600	Weak transcription	Right Atrium	heart
42	chr22:22259200-22270600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr22:22259200-22271600	Weak transcription	Right Ventricle	heart
44	chr22:22259200-22271600	Weak transcription	Spleen	Spleen
45	chr22:22261000-22262400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr22:22262600-22262800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr22:22262800-22270400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr22:22264200-22264400	Bivalent Enhancer	K562	blood
49	chr22:22264400-22264600	Enhancers	HSMM	muscle
50	chr22:22264400-22265000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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