Variant report

Variant	nsv1055951
Chromosome Location	chr22:23273137-23337914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2052)
CpG islands
(count:0)
Chromatin interactive
region (count:190)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2052 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23304727-23304753	K562	blood:	n/a	n/a
2	ARID3A	chr22:23301392-23301736	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23301323-23301822	K562	blood:	n/a	n/a
4	ARID3A	chr22:23302506-23302886	HepG2	liver:	n/a	n/a
5	ARID3A	chr22:23284829-23285332	K562	blood:	n/a	n/a
6	ARID3A	chr22:23282059-23282441	HepG2	liver:	n/a	n/a
7	ARID3A	chr22:23325197-23325207	K562	blood:	n/a	n/a
8	ATF1	chr22:23301185-23301842	K562	blood:	n/a	n/a
9	ATF1	chr22:23318597-23318797	K562	blood:	n/a	n/a
10	ATF1	chr22:23327840-23327943	K562	blood:	n/a	n/a
11	ATF1	chr22:23315396-23315720	K562	blood:	n/a	n/a
12	ATF1	chr22:23288053-23288301	K562	blood:	n/a	n/a
13	ATF1	chr22:23306730-23306734	K562	blood:	n/a	n/a
14	ATF1	chr22:23317348-23317584	K562	blood:	n/a	n/a
15	ATF1	chr22:23305088-23305147	K562	blood:	n/a	n/a
16	ATF1	chr22:23306343-23306353	K562	blood:	n/a	n/a
17	ATF1	chr22:23332623-23332803	K562	blood:	n/a	n/a
18	ATF1	chr22:23302425-23302483	K562	blood:	n/a	n/a
19	ATF1	chr22:23289828-23289954	K562	blood:	n/a	n/a
20	ATF1	chr22:23307428-23307545	K562	blood:	n/a	n/a
21	ATF1	chr22:23309047-23309052	K562	blood:	n/a	n/a
22	ATF1	chr22:23279242-23279779	K562	blood:	n/a	n/a
23	ATF1	chr22:23294422-23294718	K562	blood:	n/a	n/a
24	ATF1	chr22:23322141-23322315	K562	blood:	n/a	n/a
25	ATF1	chr22:23325970-23326396	K562	blood:	n/a	n/a
26	ATF2	chr22:23284669-23285361	GM12878	blood:	n/a	n/a
27	ATF2	chr22:23273248-23273796	GM12878	blood:	n/a	n/a
28	ATF2	chr22:23277487-23278267	GM12878	blood:	n/a	n/a
29	ATF2	chr22:23284776-23285371	GM12878	blood:	n/a	n/a
30	ATF2	chr22:23273983-23274459	GM12878	blood:	n/a	n/a
31	ATF2	chr22:23277251-23278348	GM12878	blood:	n/a	n/a
32	ATF2	chr22:23273903-23274587	GM12878	blood:	n/a	n/a
33	ATF3	chr22:23315439-23315825	K562	blood:	n/a	n/a
34	ATF3	chr22:23301353-23301754	GM12878	blood:	n/a	n/a
35	ATF3	chr22:23284481-23286273	K562	blood:	n/a	n/a
36	ATF3	chr22:23296764-23297193	K562	blood:	n/a	n/a
37	ATF3	chr22:23301076-23301768	K562	blood:	n/a	n/a
38	BACH1	chr22:23279302-23279479	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr22:23304757-23304930	K562	blood:	n/a	n/a
40	BACH1	chr22:23331722-23331895	K562	blood:	n/a	n/a
41	BATF	chr22:23274036-23274442	GM12878	blood:	n/a	n/a
42	BATF	chr22:23277663-23278179	GM12878	blood:	n/a	n/a
43	BATF	chr22:23284867-23285222	GM12878	blood:	n/a	n/a
44	BATF	chr22:23277686-23278091	GM12878	blood:	n/a	n/a
45	BCL11A	chr22:23277591-23278142	GM12878	blood:	n/a	chr22:23277928-23277937
46	BCL11A	chr22:23277590-23278282	GM12878	blood:	n/a	chr22:23277928-23277937
47	BCL11A	chr22:23274059-23274393	GM12878	blood:	n/a	chr22:23274243-23274252
48	BCL11A	chr22:23274000-23274473	GM12878	blood:	n/a	chr22:23274243-23274252
49	BCL3	chr22:23273934-23274465	GM12878	blood:	n/a	chr22:23274243-23274252
50	BCL3	chr22:23277522-23278255	GM12878	blood:	n/a	chr22:23277928-23277937

No data

(count:190 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr22:23112482..23113319-chr22:23284645..23285620,4	K562	blood:
2	chr22:23301060..23302071-chr9:133873402..133874393,9	K562	blood:
3	chr22:23053224..23053871-chr22:23297844..23298702,2	K562	blood:
4	chr22:23291324..23292487-chr22:23300573..23301627,3	K562	blood:
5	chr22:23319787..23321847-chr22:23327565..23331301,3	K562	blood:
6	chr22:23269159..23271034-chr22:23285763..23287373,2	K562	blood:
7	chr22:23300037..23302100-chr22:23469484..23472123,54	MCF-7	breast:
8	chr22:23257526..23260347-chr22:23270856..23273684,2	MCF-7	breast:
9	chr22:23262649..23264269-chr22:23275725..23277382,2	K562	blood:
10	chr22:23321553..23324482-chr22:23335529..23337461,2	K562	blood:
11	chr22:23286541..23288859-chr22:23290512..23293076,4	K562	blood:
12	chr22:23284838..23286479-chr22:23301714..23303911,2	K562	blood:
13	chr22:23315568..23317235-chr22:23404346..23406388,2	K562	blood:
14	chr22:23251853..23252558-chr22:23295506..23296354,3	MCF-7	breast:
15	chr22:23221282..23222436-chr22:23297430..23298768,6	K562	blood:
16	chr22:23221440..23222221-chr22:23297786..23298354,2	MCF-7	breast:
17	chr22:23299672..23301787-chr22:23610820..23612474,2	K562	blood:
18	chr22:23219288..23219961-chr22:23301164..23301804,2	K562	blood:
19	chr22:23201841..23202838-chr22:23297832..23298505,2	K562	blood:
20	chr22:23301094..23302297-chr9:133738458..133739650,7	K562	blood:
21	chr22:23301036..23302224-chr9:133921813..133922729,7	K562	blood:
22	chr22:23302245..23304998-chr22:23365475..23368091,3	K562	blood:
23	chr22:23302255..23302789-chr22:23727921..23728846,2	MCF-7	breast:
24	chr22:23283899..23286228-chr22:23288836..23291377,2	K562	blood:
25	chr22:23190217..23192140-chr22:23297702..23298803,18	K562	blood:
26	chr22:23321553..23324482-chr22:23335529..23337461,2	K562	blood:
27	chr22:23095780..23096787-chr22:23297638..23298767,10	K562	blood:
28	chr22:23301147..23302267-chr22:23472305..23473430,4	K562	blood:
29	chr22:23175251..23177707-chr22:23277255..23279235,2	K562	blood:
30	chr22:23098299..23098965-chr22:23297613..23298499,2	K562	blood:
31	chr22:23301549..23302724-chr22:23327158..23327956,3	K562	blood:
32	chr22:22818017..22819078-chr22:23297702..23298769,7	K562	blood:
33	chr22:23214471..23217430-chr22:23295517..23297534,2	K562	blood:
34	chr22:23152352..23153037-chr22:23301206..23301893,2	K562	blood:
35	chr22:23292544..23295417-chr22:23296767..23298296,2	K562	blood:
36	chr22:23112664..23113297-chr22:23297048..23297785,2	K562	blood:
37	chr22:23283899..23288368-chr22:23289284..23293076,7	K562	blood:
38	chr22:23197959..23198625-chr22:23297727..23298760,3	MCF-7	breast:
39	chr22:23286541..23288859-chr22:23290512..23293076,4	K562	blood:
40	chr22:23333630..23336043-chr22:23523399..23525506,2	K562	blood:
41	chr22:23281421..23283891-chr22:23290438..23292257,2	K562	blood:
42	chr22:23112339..23113246-chr22:23300723..23301542,2	K562	blood:
43	chr22:22818525..22819033-chr22:23284603..23285187,2	K562	blood:
44	chr22:23302491..23304383-chr22:23468441..23470876,3	K562	blood:
45	chr22:23285600..23288138-chr22:23326228..23328719,2	K562	blood:
46	chr22:23283587..23284135-chr22:23298210..23298770,2	K562	blood:
47	chr22:23301153..23301965-chr22:23727829..23728713,3	K562	blood:
48	chr22:23190251..23190811-chr22:23300574..23301389,3	MCF-7	breast:
49	chr22:23195451..23196440-chr22:23280544..23281196,2	K562	blood:
50	chr22:23197941..23198519-chr22:23296672..23297562,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNAZ-2	chr22:23336329-23336395	NONHSAT083840
2	lnc-D87017.1-4	chr22:23330438-23330756	NONHSAT083839
3	lnc-GNAZ-2	chr22:23332865-23332952	NONHSAT083840

No data

Variant related genes	Relation type
ENSG00000237472	TF binding region
ENSG00000223679	TF binding region
ENSG00000128266	chromatin interactions
ENSG00000100228	chromatin interactions
ENSG00000211663	chromatin interactions
ENSG00000133519	chromatin interactions
ENSG00000223679	chromatin interactions
ENSG00000221069	chromatin interactions
ENSG00000207832	chromatin interactions
ENSG00000253963	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000211685	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000100218	chromatin interactions
ENSG00000253448	chromatin interactions
ENSG00000211655	chromatin interactions
ENSG00000237472	chromatin interactions
ENSG00000211672	chromatin interactions
ENSG00000211680	chromatin interactions
ENSG00000254030	chromatin interactions
ENSG00000237127	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000264824	chromatin interactions
ENSG00000099949	chromatin interactions
ENSG00000211684	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000211673	chromatin interactions
ENSG00000211682	chromatin interactions

Extended variants
information (count: 2700 )
Associated
traits (count: 217 )

Variant overlapped rSNPs/rCNVs (count:2700 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150910242	chr22:23273164-23273165	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs562167108	chr22:23273170-23273171	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs527444218	chr22:23273172-23273173	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs541245382	chr22:23273210-23273211	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs74822035	chr22:23273245-23273246	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs60433737	chr22:23273259-23273260	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs373066355	chr22:23273268-23273269	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs549738108	chr22:23273269-23273270	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs34135475	chr22:23273324-23273325	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs5759539	chr22:23273350-23273351	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532902484	chr22:23273361-23273362	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs531026092	chr22:23273369-23273370	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs528858422	chr22:23273388-23273389	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs377201131	chr22:23273402-23273403	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs369114864	chr22:23273416-23273417	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs534097203	chr22:23273452-23273453	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs554097910	chr22:23273485-23273486	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs571108101	chr22:23273506-23273507	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs539785865	chr22:23273516-23273517	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs556517533	chr22:23273518-23273519	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs576459476	chr22:23273519-23273520	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs542254277	chr22:23273534-23273535	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs555865062	chr22:23273548-23273549	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs572594613	chr22:23273564-23273565	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs34405952	chr22:23273573-23273574	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs541206954	chr22:23273575-23273576	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs540202394	chr22:23273582-23273583	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs564163254	chr22:23273639-23273640	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs116477377	chr22:23273640-23273641	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs543302717	chr22:23273646-23273647	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs563606377	chr22:23273649-23273650	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528821802	chr22:23273658-23273659	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs181221278	chr22:23273681-23273682	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371710385	chr22:23273699-23273700	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528205394	chr22:23273700-23273701	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547961009	chr22:23273736-23273737	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs571003244	chr22:23273737-23273738	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs138281802	chr22:23273744-23273745	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs143879855	chr22:23273773-23273774	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs117417140	chr22:23273777-23273778	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs570379609	chr22:23273799-23273800	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535823623	chr22:23273808-23273809	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555828370	chr22:23273829-23273830	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs572558406	chr22:23273839-23273840	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs535398569	chr22:23273862-23273863	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs76937492	chr22:23273864-23273865	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs557932221	chr22:23273867-23273868	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186197627	chr22:23273885-23273886	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs375690615	chr22:23273903-23273904	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs543616607	chr22:23273926-23273927	Enhancers Weak transcription Strong transcription Flanking Active TSS	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
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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	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	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	20639864	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23259400-23290200	Enhancers	Primary B cells from peripheral blood	blood
2	chr22:23263600-23289400	Enhancers	Primary B cells from cord blood	blood
3	chr22:23266200-23278800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr22:23268000-23275000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr22:23268400-23278800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:23268800-23274400	Enhancers	Spleen	Spleen
7	chr22:23269000-23273800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:23270000-23274000	Enhancers	Fetal Muscle Trunk	muscle
9	chr22:23270400-23273400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:23270400-23274000	Enhancers	Primary hematopoietic stem cells	blood
11	chr22:23270600-23273600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr22:23271200-23273600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:23271200-23278000	Strong transcription	Right Atrium	heart
14	chr22:23271600-23273400	Enhancers	HSMMtube	muscle
15	chr22:23271600-23273800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:23271600-23274600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr22:23272000-23275600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr22:23272400-23279400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr22:23272400-23281000	Weak transcription	Dnd41	blood
20	chr22:23272600-23273200	Enhancers	GM12878-XiMat	blood
21	chr22:23273200-23275200	Flanking Active TSS	GM12878-XiMat	blood
22	chr22:23273400-23274600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:23273400-23278400	Weak transcription	HSMMtube	muscle
24	chr22:23273600-23274000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:23273600-23274000	Enhancers	Duodenum Mucosa	Duodenum
26	chr22:23273800-23275200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:23273800-23277400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:23274000-23274400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr22:23274000-23274800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr22:23274000-23274800	Enhancers	Fetal Muscle Leg	muscle
31	chr22:23274200-23276400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:23274400-23274600	Enhancers	Primary hematopoietic stem cells	blood
33	chr22:23274400-23274600	Flanking Active TSS	Spleen	Spleen
34	chr22:23274600-23274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:23274600-23274800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr22:23274600-23274800	Enhancers	Spleen	Spleen
37	chr22:23274600-23277000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr22:23274800-23275000	Enhancers	Colonic Mucosa	Colon
39	chr22:23274800-23275000	Flanking Active TSS	Spleen	Spleen
40	chr22:23274800-23276600	Weak transcription	Fetal Muscle Leg	muscle
41	chr22:23275000-23275600	Enhancers	Spleen	Spleen
42	chr22:23275000-23276600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr22:23275200-23275400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:23275200-23277200	Enhancers	GM12878-XiMat	blood
45	chr22:23275400-23275800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr22:23275600-23275800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr22:23275600-23276400	Flanking Active TSS	Spleen	Spleen
48	chr22:23275800-23278400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr22:23276000-23276200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr22:23276000-23276200	Enhancers	Colonic Mucosa	Colon

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