Variant report

Variant	esv1830522
Chromosome Location	chr22:23249220-23284600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:924)
CpG islands
(count:0)
Chromatin interactive
region (count:56)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:924 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23258750-23259076	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:23282059-23282441	HepG2	liver:	n/a	n/a
3	ATF1	chr22:23251232-23251667	K562	blood:	n/a	n/a
4	ATF1	chr22:23249632-23250275	K562	blood:	n/a	n/a
5	ATF1	chr22:23254917-23254918	K562	blood:	n/a	n/a
6	ATF1	chr22:23270547-23272244	K562	blood:	n/a	n/a
7	ATF1	chr22:23262737-23263489	K562	blood:	n/a	n/a
8	ATF1	chr22:23253446-23253456	K562	blood:	n/a	n/a
9	ATF1	chr22:23279242-23279779	K562	blood:	n/a	n/a
10	ATF1	chr22:23252055-23252437	K562	blood:	n/a	n/a
11	ATF1	chr22:23266964-23266992	K562	blood:	n/a	n/a
12	ATF2	chr22:23248892-23250514	GM12878	blood:	n/a	n/a
13	ATF2	chr22:23273983-23274459	GM12878	blood:	n/a	n/a
14	ATF2	chr22:23277251-23278348	GM12878	blood:	n/a	n/a
15	ATF2	chr22:23277487-23278267	GM12878	blood:	n/a	n/a
16	ATF2	chr22:23270597-23271768	GM12878	blood:	n/a	n/a
17	ATF2	chr22:23273248-23273796	GM12878	blood:	n/a	n/a
18	ATF2	chr22:23248930-23250295	GM12878	blood:	n/a	n/a
19	ATF2	chr22:23270734-23271601	GM12878	blood:	n/a	n/a
20	ATF2	chr22:23273903-23274587	GM12878	blood:	n/a	n/a
21	ATF3	chr22:23268441-23268917	K562	blood:	n/a	chr22:23268625-23268635
22	ATF3	chr22:23284481-23286273	K562	blood:	n/a	n/a
23	ATF3	chr22:23270541-23271262	K562	blood:	n/a	n/a
24	BACH1	chr22:23279302-23279479	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr22:23265361-23265362	K562	blood:	n/a	n/a
26	BACH1	chr22:23259715-23259720	K562	blood:	n/a	n/a
27	BACH1	chr22:23261304-23261342	K562	blood:	n/a	n/a
28	BATF	chr22:23277686-23278091	GM12878	blood:	n/a	n/a
29	BATF	chr22:23274036-23274442	GM12878	blood:	n/a	n/a
30	BATF	chr22:23277663-23278179	GM12878	blood:	n/a	n/a
31	BATF	chr22:23270779-23271374	GM12878	blood:	n/a	chr22:23271120-23271130 chr22:23271115-23271126 chr22:23271116-23271126
32	BATF	chr22:23270934-23271250	GM12878	blood:	n/a	chr22:23271120-23271130 chr22:23271115-23271126 chr22:23271116-23271126
33	BCL11A	chr22:23277591-23278142	GM12878	blood:	n/a	chr22:23277928-23277937
34	BCL11A	chr22:23274000-23274473	GM12878	blood:	n/a	chr22:23274243-23274252
35	BCL11A	chr22:23277590-23278282	GM12878	blood:	n/a	chr22:23277928-23277937
36	BCL11A	chr22:23247624-23250417	GM12878	blood:	n/a	chr22:23248333-23248341
37	BCL11A	chr22:23274059-23274393	GM12878	blood:	n/a	chr22:23274243-23274252
38	BCL11A	chr22:23270716-23271416	GM12878	blood:	n/a	chr22:23271010-23271019
39	BCL11A	chr22:23270885-23271275	GM12878	blood:	n/a	chr22:23271010-23271019
40	BCL3	chr22:23277522-23278255	GM12878	blood:	n/a	chr22:23277928-23277937
41	BCL3	chr22:23274032-23274445	GM12878	blood:	n/a	chr22:23274243-23274252
42	BCL3	chr22:23248947-23250094	GM12878	blood:	n/a	n/a
43	BCL3	chr22:23270747-23271458	GM12878	blood:	n/a	chr22:23271010-23271019
44	BCL3	chr22:23273934-23274465	GM12878	blood:	n/a	chr22:23274243-23274252
45	BCL3	chr22:23248989-23250139	GM12878	blood:	n/a	n/a
46	BCL3	chr22:23277565-23278131	GM12878	blood:	n/a	chr22:23277928-23277937
47	BCLAF1	chr22:23248885-23250608	GM12878	blood:	n/a	n/a
48	BCLAF1	chr22:23248919-23250395	GM12878	blood:	n/a	n/a
49	BCLAF1	chr22:23273701-23274572	GM12878	blood:	n/a	chr22:23274243-23274252 chr22:23274497-23274505
50	BCLAF1	chr22:23270454-23271872	GM12878	blood:	n/a	chr22:23271010-23271019

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:23211923..23213773-chr22:23255638..23258101,2	K562	blood:
2	chr22:22819406..22819970-chr22:23284540..23285372,2	K562	blood:
3	chr22:23269159..23271034-chr22:23285763..23287373,2	K562	blood:
4	chr22:23234328..23239223-chr22:23249114..23253993,6	K562	blood:
5	chr22:23261117..23263641-chr22:23264707..23267231,3	K562	blood:
6	chr22:23175251..23177707-chr22:23277255..23279235,2	K562	blood:
7	chr22:23258677..23261321-chr22:23267871..23270694,4	K562	blood:
8	chr22:23245468..23247565-chr22:23249258..23251335,3	K562	blood:
9	chr22:23269604..23273139-chr22:23273414..23276481,4	K562	blood:
10	chr22:23269604..23273139-chr22:23273414..23276481,4	K562	blood:
11	chr22:23225282..23228590-chr22:23283687..23286029,3	K562	blood:
12	chr22:23249788..23251920-chr22:23270655..23273406,3	K562	blood:
13	chr22:23246871..23249530-chr22:23253643..23256082,2	K562	blood:
14	chr22:23257526..23260347-chr22:23270856..23273684,2	MCF-7	breast:
15	chr22:23266292..23268666-chr22:23279796..23283281,3	K562	blood:
16	chr22:23195451..23196440-chr22:23280544..23281196,2	K562	blood:
17	chr22:23251853..23252558-chr22:23295506..23296354,3	MCF-7	breast:
18	chr22:23219235..23219863-chr22:23270722..23271390,2	K562	blood:
19	chr22:23236796..23239209-chr22:23258890..23261514,2	K562	blood:
20	chr22:23248970..23251030-chr22:23266059..23268328,2	K562	blood:
21	chr22:23281421..23283891-chr22:23290438..23292257,2	K562	blood:
22	chr22:23183438..23186320-chr22:23270023..23271683,2	K562	blood:
23	chr22:23152432..23153103-chr22:23254207..23254852,2	K562	blood:
24	chr22:23283138..23284821-chr22:23521700..23523896,2	K562	blood:
25	chr22:23225869..23226888-chr22:23284493..23285611,4	K562	blood:
26	chr22:23230851..23232657-chr22:23258084..23260097,2	K562	blood:
27	chr22:23270409..23272197-chr22:23283086..23285103,2	K562	blood:
28	chr22:23248970..23251030-chr22:23266059..23268328,2	K562	blood:
29	chr22:23249849..23250456-chr22:23284637..23285518,2	K562	blood:
30	chr22:23254052..23256994-chr22:23268482..23271052,2	K562	blood:
31	chr22:23231973..23234722-chr22:23268972..23271345,2	MCF-7	breast:
32	chr22:23176207..23178298-chr22:23277735..23280174,2	K562	blood:
33	chr22:23283899..23288368-chr22:23289284..23293076,7	K562	blood:
34	chr22:23126814..23129799-chr22:23281583..23283396,2	K562	blood:
35	chr22:23249788..23251920-chr22:23270655..23273406,3	K562	blood:
36	chr22:23190337..23191135-chr22:23277615..23278474,2	K562	blood:
37	chr22:23276558..23279492-chr22:23287483..23289358,2	K562	blood:
38	chr22:23263458..23265124-chr22:23267456..23270407,2	K562	blood:
39	chr22:23258107..23260177-chr22:23268082..23270661,2	K562	blood:
40	chr22:23258107..23260177-chr22:23268082..23270661,2	K562	blood:
41	chr22:23271545..23273567-chr22:23289644..23291552,2	K562	blood:
42	chr22:23249460..23256264-chr22:23263399..23267410,8	K562	blood:
43	chr22:23266292..23268666-chr22:23279796..23283281,3	K562	blood:
44	chr22:23249460..23256264-chr22:23263399..23267410,8	K562	blood:
45	chr22:23261255..23263406-chr22:23270232..23272923,2	MCF-7	breast:
46	chr22:23262831..23264788-chr22:23270674..23273625,2	K562	blood:
47	chr22:23270409..23272197-chr22:23283086..23285103,2	K562	blood:
48	chr22:23262649..23264269-chr22:23275725..23277382,2	K562	blood:
49	chr22:23283899..23286228-chr22:23288836..23291377,2	K562	blood:
50	chr22:23283587..23284135-chr22:23298210..23298770,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTDR1-4	chr22:23264978-23265153	NONHSAT083834
2	lnc-RTDR1-4	chr22:23261700-23261973	NONHSAT083834
3	lnc-D87017.1-2	chr22:23257805-23258097	NONHSAT083836
4	lnc-RTDR1-4	chr22:23262147-23262154	NONHSAT083834
5	lnc-D87017.1-3	chr22:23252998-23253245	NONHSAT083835
6	lnc-RTDR1-4	chr22:23264861-23264965	NONHSAT083834

No data

Variant related genes	Relation type
IGLJ5	TF binding region
IGLC7	TF binding region
IGLJ7	TF binding region
IGLJ6	TF binding region
IGLJ4	TF binding region
IGLC4	TF binding region
IGLC5	TF binding region
IGLC6	TF binding region
ENSG00000211680	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000211684	chromatin interactions
ENSG00000211655	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000211678	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000221069	chromatin interactions
ENSG00000211674	chromatin interactions
ENSG00000264824	chromatin interactions
ENSG00000211672	chromatin interactions
ENSG00000211675	chromatin interactions
ENSG00000237127	chromatin interactions
ENSG00000211681	chromatin interactions
ENSG00000254029	chromatin interactions
ENSG00000222037	chromatin interactions
ENSG00000211682	chromatin interactions
ENSG00000254030	chromatin interactions
ENSG00000211685	chromatin interactions

Extended variants
information (count: 1979 )
Associated
traits (count: 216 )

Variant overlapped rSNPs/rCNVs (count:1979 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371967544	chr22:23249244-23249245	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs527948750	chr22:23249276-23249277	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs144114443	chr22:23249297-23249298	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs367889784	chr22:23249310-23249311	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs188438900	chr22:23249326-23249327	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs361597	chr22:23249349-23249350	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs539487232	chr22:23249350-23249351	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs2519501	chr22:23249354-23249355	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs459830	chr22:23249369-23249370	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs570094978	chr22:23249384-23249385	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs2856875	chr22:23249390-23249391	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs555509816	chr22:23249401-23249402	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs146026811	chr22:23249408-23249409	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs541320094	chr22:23249410-23249411	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs558125639	chr22:23249413-23249414	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs180890383	chr22:23249426-23249427	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs543393762	chr22:23249435-23249436	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs2856876	chr22:23249440-23249441	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs60702464	chr22:23249443-23249444	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542376531	chr22:23249482-23249483	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs184259617	chr22:23249507-23249508	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs2856877	chr22:23249522-23249523	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs2856878	chr22:23249524-23249525	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs527914915	chr22:23249525-23249526	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs571038330	chr22:23249537-23249538	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs547673041	chr22:23249543-23249544	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs139995153	chr22:23249546-23249547	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs533455521	chr22:23249561-23249562	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs550115625	chr22:23249575-23249576	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs143498039	chr22:23249594-23249595	Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs190471698	chr22:23249646-23249647	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs535923280	chr22:23249647-23249648	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs182253060	chr22:23249656-23249657	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs568738135	chr22:23249675-23249676	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs186002392	chr22:23249692-23249693	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs190417932	chr22:23249698-23249699	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs557989857	chr22:23249699-23249700	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs536178583	chr22:23249700-23249701	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs577967923	chr22:23249703-23249704	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs533334689	chr22:23249720-23249721	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs962260	chr22:23249721-23249722	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs112233840	chr22:23249733-23249734	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs185442888	chr22:23249737-23249738	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs542691205	chr22:23249744-23249745	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs559223416	chr22:23249747-23249748	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs117833187	chr22:23249752-23249753	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs541179688	chr22:23249823-23249824	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs564356656	chr22:23249832-23249833	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs564373970	chr22:23249838-23249839	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs550235214	chr22:23249849-23249850	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:216)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	17989066	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23247400-23249800	Weak transcription	Right Atrium	heart
2	chr22:23247600-23251800	Weak transcription	Dnd41	blood
3	chr22:23249000-23249400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr22:23249000-23249400	Flanking Active TSS	GM12878-XiMat	blood
5	chr22:23249000-23249600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
6	chr22:23249400-23249600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:23249400-23249800	Genic enhancers	Primary B cells from cord blood	blood
8	chr22:23249400-23250800	Enhancers	GM12878-XiMat	blood
9	chr22:23249600-23249800	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr22:23249800-23250600	Enhancers	Primary B cells from cord blood	blood
11	chr22:23249800-23258400	Enhancers	Primary B cells from peripheral blood	blood
12	chr22:23249800-23270800	Strong transcription	Right Atrium	heart
13	chr22:23250600-23251800	Weak transcription	Primary B cells from cord blood	blood
14	chr22:23250800-23251800	Weak transcription	GM12878-XiMat	blood
15	chr22:23251800-23254000	Enhancers	Dnd41	blood
16	chr22:23251800-23254000	Enhancers	GM12878-XiMat	blood
17	chr22:23251800-23256400	Enhancers	Primary B cells from cord blood	blood
18	chr22:23252000-23252400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr22:23252200-23253000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:23252200-23253000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr22:23252400-23252600	Enhancers	Fetal Thymus	thymus
22	chr22:23252400-23252600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
23	chr22:23252400-23256400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr22:23253000-23253200	Enhancers	Spleen	Spleen
25	chr22:23253000-23253600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:23253000-23256200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr22:23253200-23253800	Weak transcription	Spleen	Spleen
28	chr22:23253600-23253800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr22:23253600-23253800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr22:23253800-23254000	Enhancers	Spleen	Spleen
31	chr22:23253800-23255800	Weak transcription	Fetal Thymus	thymus
32	chr22:23253800-23256000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:23254000-23255200	Weak transcription	Dnd41	blood
34	chr22:23254000-23256000	Weak transcription	GM12878-XiMat	blood
35	chr22:23254000-23268800	Weak transcription	Spleen	Spleen
36	chr22:23254800-23255000	Enhancers	HSMMtube	muscle
37	chr22:23255200-23256000	Enhancers	Dnd41	blood
38	chr22:23255200-23256400	Weak transcription	HSMMtube	muscle
39	chr22:23255200-23257800	Enhancers	Fetal Muscle Leg	muscle
40	chr22:23255400-23259400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:23255800-23256800	Enhancers	Primary hematopoietic stem cells	blood
42	chr22:23255800-23256800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:23255800-23257200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr22:23255800-23257400	Enhancers	Fetal Thymus	thymus
45	chr22:23256000-23256800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr22:23256000-23257000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:23256000-23257200	Flanking Active TSS	Dnd41	blood
48	chr22:23256000-23257800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr22:23256000-23257800	Enhancers	GM12878-XiMat	blood
50	chr22:23256200-23256800	Enhancers	Monocytes-CD14+_RO01746	blood

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