Variant report

Variant	esv1813774
Chromosome Location	chr22:21460598-21656315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4397)
CpG islands
(count:915)
Chromatin interactive
region (count:4)
LncRNA
region (count:44)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4397 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21462458-21463637	K562	blood:	n/a	n/a
2	ARID3A	chr22:21592118-21592318	HepG2	liver:	n/a	n/a
3	ATF3	chr22:21505263-21505378	K562	blood:	n/a	chr22:21505324-21505335 chr22:21505327-21505337 chr22:21505324-21505334 chr22:21505323-21505336 chr22:21505325-21505338 chr22:21505323-21505338 chr22:21505325-21505336 chr22:21505327-21505335 chr22:21505315-21505335 chr22:21505325-21505336 chr22:21505324-21505334 chr22:21505327-21505334 chr22:21505324-21505337 chr22:21505324-21505337
4	BACH1	chr22:21462948-21463323	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr22:21462599-21463625	K562	blood:	n/a	n/a
6	BATF	chr22:21520279-21520520	GM12878	blood:	n/a	n/a
7	BATF	chr22:21653924-21654130	GM12878	blood:	n/a	n/a
8	BATF	chr22:21530065-21530551	GM12878	blood:	n/a	n/a
9	BATF	chr22:21633690-21634128	GM12878	blood:	n/a	n/a
10	BATF	chr22:21595314-21596320	GM12878	blood:	n/a	n/a
11	BATF	chr22:21520245-21520522	GM12878	blood:	n/a	n/a
12	BATF	chr22:21539391-21539831	GM12878	blood:	n/a	n/a
13	BATF	chr22:21647063-21647283	GM12878	blood:	n/a	n/a
14	BATF	chr22:21629925-21630195	GM12878	blood:	n/a	n/a
15	BATF	chr22:21630913-21631158	GM12878	blood:	n/a	n/a
16	BATF	chr22:21488893-21489171	GM12878	blood:	n/a	n/a
17	BATF	chr22:21604490-21604702	GM12878	blood:	n/a	n/a
18	BATF	chr22:21533096-21533364	GM12878	blood:	n/a	n/a
19	BATF	chr22:21521889-21522186	GM12878	blood:	n/a	n/a
20	BATF	chr22:21643643-21643852	GM12878	blood:	n/a	n/a
21	BATF	chr22:21551290-21551548	GM12878	blood:	n/a	n/a
22	BATF	chr22:21545572-21545926	GM12878	blood:	n/a	n/a
23	BATF	chr22:21612702-21613053	GM12878	blood:	n/a	n/a
24	BATF	chr22:21535504-21535712	GM12878	blood:	n/a	n/a
25	BATF	chr22:21649952-21650430	GM12878	blood:	n/a	n/a
26	BATF	chr22:21473984-21474189	GM12878	blood:	n/a	n/a
27	BATF	chr22:21468628-21469019	GM12878	blood:	n/a	n/a
28	BATF	chr22:21496561-21496815	GM12878	blood:	n/a	n/a
29	BATF	chr22:21488874-21489181	GM12878	blood:	n/a	n/a
30	BATF	chr22:21597069-21597517	GM12878	blood:	n/a	n/a
31	BATF	chr22:21643759-21643961	GM12878	blood:	n/a	n/a
32	BATF	chr22:21536438-21536651	GM12878	blood:	n/a	n/a
33	BATF	chr22:21524608-21524792	GM12878	blood:	n/a	n/a
34	BATF	chr22:21474334-21474742	GM12878	blood:	n/a	n/a
35	BATF	chr22:21555841-21556178	GM12878	blood:	n/a	n/a
36	BATF	chr22:21655763-21656117	GM12878	blood:	n/a	n/a
37	BATF	chr22:21544870-21545207	GM12878	blood:	n/a	n/a
38	BATF	chr22:21532564-21532829	GM12878	blood:	n/a	n/a
39	BATF	chr22:21622260-21622514	GM12878	blood:	n/a	n/a
40	BATF	chr22:21476106-21476356	GM12878	blood:	n/a	n/a
41	BATF	chr22:21644369-21644724	GM12878	blood:	n/a	n/a
42	BATF	chr22:21595541-21595907	GM12878	blood:	n/a	n/a
43	BATF	chr22:21534431-21534821	GM12878	blood:	n/a	chr22:21534544-21534554
44	BATF	chr22:21598470-21598721	GM12878	blood:	n/a	chr22:21598499-21598512
45	BATF	chr22:21529720-21529985	GM12878	blood:	n/a	n/a
46	BATF	chr22:21484942-21485380	GM12878	blood:	n/a	n/a
47	BATF	chr22:21521061-21521331	GM12878	blood:	n/a	n/a
48	BATF	chr22:21640199-21640520	GM12878	blood:	n/a	n/a
49	BATF	chr22:21469301-21469556	GM12878	blood:	n/a	chr22:21469418-21469429
50	BATF	chr22:21521921-21522186	GM12878	blood:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21537792-21537842	HAEpiC	amniotic membrane:	n/a
2	chr22:21636474-21636524	ECC-1	luminal epithelium:	n/a
3	chr22:21539377-21539427	HCPEpiC	choroid plexus:	n/a
4	chr22:21539377-21539427	MCF-7	breast:	n/a
5	chr22:21479855-21479905	HNPCEpiC	eye:	n/a
6	chr22:21505345-21505395	HIPEpiC	eye:	n/a
7	chr22:21537792-21537842	PrEC	prostate:	n/a
8	chr22:21618908-21618958	HUVEC	blood vessel:	n/a
9	chr22:21505676-21505726	HAEpiC	amniotic membrane:	n/a
10	chr22:21538194-21538244	Hepatocyte	liver:	n/a
11	chr22:21480518-21480568	HCM	heart:	n/a
12	chr22:21505676-21505726	HEEpiC	esophagus:	n/a
13	chr22:21505345-21505395	AG04450	lung:	fetal
14	chr22:21541635-21541685	HCM	heart:	n/a
15	chr22:21538194-21538244	PrEC	prostate:	n/a
16	chr22:21479855-21479905	HRCEpiC	kidney:	n/a
17	chr22:21541635-21541685	AG10803	skin:	n/a
18	chr22:21482479-21482529	AG04450	lung:	fetal
19	chr22:21480518-21480568	T-47D	breast:	n/a
20	chr22:21480518-21480568	NT2-D1	testis:	n/a
21	chr22:21537792-21537842	HCF	heart:	n/a
22	chr22:21480518-21480568	HCPEpiC	choroid plexus:	n/a
23	chr22:21618908-21618958	NB4	blood:	n/a
24	chr22:21541635-21541685	HRPEpiC	eye:	n/a
25	chr22:21538194-21538244	GM12891	blood:	n/a
26	chr22:21505345-21505395	HCPEpiC	choroid plexus:	n/a
27	chr22:21505676-21505726	NH-A	brain:	n/a
28	chr22:21505676-21505726	GM06990	blood:	n/a
29	chr22:21505676-21505726	NHBE	bronchial:	n/a
30	chr22:21567227-21567277	SK-N-SH	brain:	n/a
31	chr22:21639231-21639281	BE2_C	brain:	n/a
32	chr22:21567227-21567277	HIPEpiC	eye:	n/a
33	chr22:21538194-21538244	AG04449	skin:	fetal
34	chr22:21567227-21567277	AG04449	skin:	fetal
35	chr22:21618908-21618958	PANC-1	pancreas:	n/a
36	chr22:21636512-21636562	ovcar-3	ovarian:	n/a
37	chr22:21639231-21639281	RPTEC	kidney:	n/a
38	chr22:21636512-21636562	ECC-1	luminal epithelium:	n/a
39	chr22:21567227-21567277	PrEC	prostate:	n/a
40	chr22:21537792-21537842	ECC-1	luminal epithelium:	n/a
41	chr22:21639231-21639281	HPAEpiC	pulmonary alveolar:	n/a
42	chr22:21479855-21479905	AG04450	lung:	fetal
43	chr22:21482479-21482529	HRE	kidney:	n/a
44	chr22:21636474-21636524	GM12892	blood:	n/a
45	chr22:21538194-21538244	T-47D	breast:	n/a
46	chr22:21505676-21505726	BE2_C	brain:	n/a
47	chr22:21482479-21482529	SAEC	small airway:	n/a
48	chr22:21505345-21505395	A549	lung:	n/a
49	chr22:21541635-21541685	K562	blood:	n/a
50	chr22:21480518-21480568	GM12878	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21356384..21358791-chr22:21460678..21463188,2	K562	blood:
2	chr22:21355602..21358079-chr22:21461383..21463245,2	MCF-7	breast:
3	chr22:21453029..21455213-chr22:21459459..21461681,2	K562	blood:
4	chr22:21450378..21453014-chr22:21461236..21463100,2	K562	blood:

(count:44 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP000552.1-2	chr22:21546011-21546438	ENSG00000215498.4
2	lnc-AP000552.1-2	chr22:21540410-21541366	ENSG00000215498.4
3	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
4	lnc-AP000552.1-2	chr22:21525370-21525497	ENSG00000215498.4
5	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
6	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
7	lnc-AP000552.1-2	chr22:21522142-21522258	ENSG00000215498.4
8	lnc-AP000552.1-2	chr22:21522174-21522258	ENSG00000215498.4
9	lnc-AP000552.1-2	chr22:21524762-21524894	ENSG00000215498.4
10	lnc-AP000552.1-2	chr22:21522118-21522258	ENSG00000215498.4
11	lnc-GGT2-1	chr22:21534049-21534164	ENSG00000234503
12	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
13	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
14	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
15	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
16	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
17	lnc-AP000552.1-2	chr22:21524154-21524293	ENSG00000215498.4
18	lnc-AP000552.1-2	chr22:21524762-21524944	ENSG00000215498.4
19	lnc-GGT2-2	chr22:21655286-21655713	ENSG00000206142
20	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
21	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
22	lnc-AP000552.1-2	chr22:21535741-21537263	ENSG00000215498.4
23	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
24	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
25	lnc-GGT2-1	chr22:21532181-21532838	ENSG00000234503
26	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
27	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
28	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
29	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
30	lnc-AP000552.1-2	chr22:21522142-21522258	ENSG00000215498.4
31	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
32	lnc-AP000552.1-2	chr22:21524102-21524293	ENSG00000215498.4
33	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
34	lnc-AP000552.1-2	chr22:21524762-21525141	ENSG00000215498.4
35	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
36	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
37	lnc-AP000552.1-2	chr22:21537560-21537611	ENSG00000215498.4
38	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
39	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
40	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
41	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
42	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
43	lnc-GGT2-2	chr22:21655286-21655713	NONHSAT083653
44	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4

No data

Variant related genes	Relation type
ENSG00000234503	TF binding region
ENSG00000226885	TF binding region
ENSG00000224688	TF binding region
BCRP2	TF binding region
POM121L8P	TF binding region
ENSG00000197210	TF binding region
BCRP6	TF binding region
FAM230B	TF binding region
POM121L7	TF binding region
GGT2	TF binding region
ENSG00000234503	CpG island
ENSG00000226885	CpG island
ENSG00000224688	CpG island
BCRP2	CpG island
POM121L8P	CpG island
ENSG00000197210	CpG island
BCRP6	CpG island
FAM230B	CpG island
POM121L7	CpG island
GGT2	CpG island
ENSG00000184436	chromatin interactions
ENSG00000230513	chromatin interactions

Extended variants
information (count: 2062 )
Associated
traits (count: 231 )

Variant overlapped rSNPs/rCNVs (count:2062 , 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	rs539150792	chr22:21460603-21460604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559241354	chr22:21460608-21460609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561688593	chr22:21460620-21460621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375468245	chr22:21460639-21460640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549872119	chr22:21460641-21460642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73877614	chr22:21460670-21460671	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535695956	chr22:21460671-21460672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541778611	chr22:21460758-21460759	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368361760	chr22:21460779-21460780	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188668406	chr22:21460806-21460807	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527844768	chr22:21460824-21460825	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs377529758	chr22:21460891-21460892	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200645340	chr22:21460896-21460897	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557691097	chr22:21460931-21460932	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs150814011	chr22:21460973-21460974	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1014626	chr22:21461017-21461018	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543536541	chr22:21461059-21461060	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs541276418	chr22:21461103-21461104	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs557142709	chr22:21461127-21461128	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573859441	chr22:21461148-21461149	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs1014627	chr22:21461177-21461178	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs548024332	chr22:21461198-21461199	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549781973	chr22:21461224-21461225	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs374132204	chr22:21461251-21461252	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs140391	chr22:21461274-21461275	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs59618762	chr22:21461335-21461336	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375248028	chr22:21461361-21461362	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528947923	chr22:21461420-21461421	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs146198069	chr22:21461429-21461430	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549859818	chr22:21461440-21461441	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs2541927	chr22:21461501-21461502	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs3047084	chr22:21461531-21461532	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs397836626	chr22:21461535-21461536	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs76462114	chr22:21461544-21461545	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549519534	chr22:21461562-21461563	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs566161924	chr22:21461592-21461593	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs5762401	chr22:21461607-21461608	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs55851001	chr22:21461648-21461649	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558210071	chr22:21461656-21461657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs192845202	chr22:21461723-21461724	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537075539	chr22:21461766-21461767	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs557077374	chr22:21461775-21461776	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573743837	chr22:21461879-21461880	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs11703357	chr22:21461882-21461883	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs553086148	chr22:21461893-21461894	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs563969802	chr22:21461911-21461912	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs539262897	chr22:21461940-21461941	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs77283135	chr22:21461958-21461959	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs78550870	chr22:21461961-21461962	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs2543399	chr22:21461982-21461983	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:231)

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
Acute lymphoblastic leukemia	19100363	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
Acute lymphoblastic leukemia	21248843	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
Glioblastoma multiforme	22286061	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
Acute lymphoblastic leukemia	20435627	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	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
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
22q11.2 deletion syndrome	22563040	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
Type 2 diabetes	21526130	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
lymphocytic leukemia	21291569	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21457400-21470400	Weak transcription	Right Atrium	heart
2	chr22:21457600-21460800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr22:21457600-21461000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:21460000-21460600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr22:21460000-21460600	Enhancers	A549	lung
6	chr22:21460400-21460600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr22:21460400-21460800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr22:21460400-21460800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr22:21460400-21460800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:21460400-21461200	Enhancers	K562	blood
11	chr22:21460600-21462400	Weak transcription	A549	lung
12	chr22:21460800-21461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:21461000-21461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:21461200-21463200	Weak transcription	K562	blood
15	chr22:21462400-21464000	Enhancers	A549	lung
16	chr22:21462600-21463800	Enhancers	Hela-S3	cervix
17	chr22:21462800-21463600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:21463200-21463600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr22:21463200-21463800	Enhancers	K562	blood
20	chr22:21483400-21483800	Enhancers	K562	blood
21	chr22:21492600-21493000	Enhancers	HepG2	liver
22	chr22:21497000-21497200	Bivalent Enhancer	K562	blood
23	chr22:21503200-21503800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:21520400-21520600	Enhancers	Gastric	stomach
25	chr22:21520600-21520800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr22:21520600-21520800	Flanking Active TSS	Gastric	stomach
27	chr22:21520600-21521000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:21520600-21521000	ZNF genes & repeats	Pancreas	Pancrea
29	chr22:21520800-21521000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:21520800-21521000	ZNF genes & repeats	Esophagus	oesophagus
31	chr22:21520800-21521000	Flanking Bivalent TSS/Enh	Gastric	stomach
32	chr22:21548800-21549200	Enhancers	HepG2	liver
33	chr22:21557200-21557400	Enhancers	Fetal Muscle Trunk	muscle
34	chr22:21557400-21558400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr22:21558400-21558600	Enhancers	Fetal Muscle Trunk	muscle
36	chr22:21558600-21559000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr22:21558600-21559000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr22:21558600-21559000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr22:21558600-21559000	Enhancers	Fetal Muscle Leg	muscle
40	chr22:21559000-21560200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr22:21559000-21560200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr22:21560200-21560400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr22:21560400-21560600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr22:21566000-21569400	Weak transcription	Right Atrium	heart
45	chr22:21569800-21590800	Weak transcription	Gastric	stomach
46	chr22:21570200-21570800	Enhancers	HMEC	breast
47	chr22:21570400-21570600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:21570400-21570800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr22:21570400-21570800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:21576000-21576200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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