Variant report

Variant	esv3436412
Chromosome Location	chr22:31741852-31743450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:970)
CpG islands
(count:307)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:970 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:31741855-31742012	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:31742833-31743138	HepG2	liver:	n/a	n/a
3	ATF2	chr22:31743248-31743867	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr22:31742718-31743223	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr22:31743420-31744016	GM12878	blood:	n/a	n/a
6	ATF2	chr22:31741749-31742049	GM12878	blood:	n/a	n/a
7	ATF2	chr22:31741717-31742056	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr22:31741808-31742159	GM12878	blood:	n/a	chr22:31742051-31742060
9	ATF3	chr22:31741822-31742111	K562	blood:	n/a	chr22:31742051-31742060
10	BACH1	chr22:31742727-31743927	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr22:31741656-31742492	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr22:31742644-31743227	GM12878	blood:	n/a	n/a
13	BCLAF1	chr22:31741640-31742160	GM12878	blood:	n/a	chr22:31742038-31742051 chr22:31741940-31741953
14	BCLAF1	chr22:31743103-31744033	GM12878	blood:	n/a	chr22:31743466-31743479 chr22:31743289-31743302
15	BCLAF1	chr22:31742681-31743033	GM12878	blood:	n/a	n/a
16	BCLAF1	chr22:31741603-31742115	GM12878	blood:	n/a	chr22:31742038-31742051 chr22:31741940-31741953
17	BHLHE40	chr22:31741794-31741994	A549	lung:	n/a	n/a
18	BHLHE40	chr22:31742313-31742551	A549	lung:	n/a	chr22:31742497-31742513
19	BHLHE40	chr22:31742318-31742559	HepG2	liver:	n/a	chr22:31742497-31742513
20	BHLHE40	chr22:31741519-31743187	HepG2	liver:	n/a	chr22:31742497-31742513 chr22:31741619-31741635
21	BHLHE40	chr22:31741505-31743828	GM12878	blood:	n/a	chr22:31743287-31743303 chr22:31742497-31742513 chr22:31741619-31741635
22	BHLHE40	chr22:31741517-31742660	K562	blood:	n/a	chr22:31742497-31742513 chr22:31741619-31741635
23	BHLHE40	chr22:31742296-31742554	HepG2	liver:	n/a	chr22:31742497-31742513
24	BRCA1	chr22:31743119-31743129	GM12878	blood:	n/a	n/a
25	BRCA1	chr22:31741842-31742031	HepG2	liver:	n/a	n/a
26	BRCA1	chr22:31742350-31742495	Hela-S3	cervix:	n/a	n/a
27	CCNT2	chr22:31741777-31742518	K562	blood:	n/a	n/a
28	CCNT2	chr22:31742810-31742907	K562	blood:	n/a	n/a
29	CEBPB	chr22:31742848-31742889	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr22:31741901-31742062	HepG2	liver:	n/a	n/a
31	CEBPB	chr22:31741859-31741971	Hela-S3	cervix:	n/a	n/a
32	CEBPD	chr22:31741672-31742133	HepG2	liver:	n/a	n/a
33	CEBPD	chr22:31742153-31743293	HepG2	liver:	n/a	n/a
34	CEBPD	chr22:31742195-31742933	HepG2	liver:	n/a	n/a
35	CEBPD	chr22:31741778-31742095	HepG2	liver:	n/a	n/a
36	CHD1	chr22:31743154-31743159	GM12878	blood:	n/a	n/a
37	CHD1	chr22:31742799-31743871	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr22:31742302-31742529	H1-hESC	embryonic stem cell:	n/a	chr22:31742366-31742376
39	CHD1	chr22:31742301-31742559	GM12878	blood:	n/a	chr22:31742366-31742376
40	CHD1	chr22:31743412-31743702	GM12878	blood:	n/a	n/a
41	CHD2	chr22:31741453-31742067	H1-hESC	embryonic stem cell:	n/a	chr22:31741625-31741635
42	CHD2	chr22:31741607-31742006	K562	blood:	n/a	chr22:31741625-31741635
43	CHD2	chr22:31742375-31742385	K562	blood:	n/a	n/a
44	CHD2	chr22:31741785-31743949	Hela-S3	cervix:	n/a	chr22:31742366-31742376 chr22:31742609-31742619
45	CHD2	chr22:31742735-31742946	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr22:31742309-31742561	HepG2	liver:	n/a	chr22:31742366-31742376
47	CHD2	chr22:31741735-31742040	HepG2	liver:	n/a	n/a
48	CHD2	chr22:31743384-31743897	GM12878	blood:	n/a	n/a
49	CHD2	chr22:31741173-31743175	GM12878	blood:	n/a	chr22:31742366-31742376 chr22:31741625-31741635 chr22:31742609-31742619
50	CHD2	chr22:31742767-31743184	HepG2	liver:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31742484-31742534	H1-hESC	embryonic stem cell:	embryo
2	chr22:31742484-31742534	Jurkat	blood:	n/a
3	chr22:31742484-31742534	H1-hESC	embryonic stem cell:	embryo
4	chr22:31742484-31742534	Jurkat	blood:	n/a
5	chr22:31742955-31743005	GM06990	blood:	n/a
6	chr22:31742739-31742789	AG09319	gingival:	n/a
7	chr22:31742955-31743005	MCF-7	breast:	n/a
8	chr22:31742480-31742530	H1-hESC	embryonic stem cell:	embryo
9	chr22:31742478-31742528	ECC-1	luminal epithelium:	n/a
10	chr22:31742478-31742528	SK-N-SH	brain:	n/a
11	chr22:31742484-31742534	NH-A	brain:	n/a
12	chr22:31742739-31742789	SK-N-SH	brain:	n/a
13	chr22:31742484-31742534	AoSMC	blood vessel:	n/a
14	chr22:31742739-31742789	Caco-2	colon:	n/a
15	chr22:31742478-31742528	AG04450	lung:	fetal
16	chr22:31742484-31742534	NHBE	bronchial:	n/a
17	chr22:31742478-31742528	GM12878	blood:	n/a
18	chr22:31742955-31743005	ECC-1	luminal epithelium:	n/a
19	chr22:31742955-31743005	AG10803	skin:	n/a
20	chr22:31742478-31742528	AG09309	skin:	n/a
21	chr22:31742484-31742534	HL-60	blood:	n/a
22	chr22:31742480-31742530	HPAEpiC	pulmonary alveolar:	n/a
23	chr22:31742480-31742530	AG04449	skin:	fetal
24	chr22:31742480-31742530	HL-60	blood:	n/a
25	chr22:31742955-31743005	HEK293	kidney:	embryo
26	chr22:31742480-31742530	NHBE	bronchial:	n/a
27	chr22:31742478-31742528	HCF	heart:	n/a
28	chr22:31742955-31743005	AoSMC	blood vessel:	n/a
29	chr22:31742478-31742528	AG10803	skin:	n/a
30	chr22:31742955-31743005	HMEC	breast:	n/a
31	chr22:31742955-31743005	BE2_C	brain:	n/a
32	chr22:31742480-31742530	Hepatocyte	liver:	n/a
33	chr22:31742480-31742530	HRPEpiC	eye:	n/a
34	chr22:31742478-31742528	Caco-2	colon:	n/a
35	chr22:31742478-31742528	HPAEpiC	pulmonary alveolar:	n/a
36	chr22:31742955-31743005	NH-A	brain:	n/a
37	chr22:31742955-31743005	AG04449	skin:	fetal
38	chr22:31742484-31742534	SK-N-SH_RA	brain:	n/a
39	chr22:31742480-31742530	SKMC	muscle:	n/a
40	chr22:31742484-31742534	AG09319	gingival:	n/a
41	chr22:31742739-31742789	T-47D	breast:	n/a
42	chr22:31742478-31742528	NH-A	brain:	n/a
43	chr22:31742955-31743005	H1-hESC	embryonic stem cell:	embryo
44	chr22:31742739-31742789	GM06990	blood:	n/a
45	chr22:31742480-31742530	HAEpiC	amniotic membrane:	n/a
46	chr22:31742739-31742789	K562	blood:	n/a
47	chr22:31742480-31742530	PFSK-1	brain:	n/a
48	chr22:31742478-31742528	PANC-1	pancreas:	n/a
49	chr22:31742955-31743005	RPTEC	kidney:	n/a
50	chr22:31742484-31742534	RPTEC	kidney:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:111125271..111126771-chr22:31740803..31742794,2	MCF-7	breast:
2	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
3	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
4	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:
5	chr22:31687347..31689011-chr22:31741919..31743859,2	K562	blood:
6	chr11:62603352..62605695-chr22:31741151..31743312,2	MCF-7	breast:
7	chr13:111367281..111367960-chr22:31741994..31742502,2	Hela-S3	cervix:
8	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
9	chr10:74033244..74035559-chr22:31742440..31745127,2	MCF-7	breast:
10	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
11	chr12:92539147..92539724-chr22:31742125..31742858,2	Hela-S3	cervix:
12	chr22:31742672..31744282-chr22:31844664..31847017,2	MCF-7	breast:
13	chr22:31740767..31742486-chr9:131903487..131906077,2	MCF-7	breast:
14	chr22:31739411..31743940-chr22:31792561..31797746,12	K562	blood:
15	chr22:31642721..31645848-chr22:31739450..31742880,5	MCF-7	breast:
16	chr20:33542963..33543794-chr22:31742378..31743055,2	Hela-S3	cervix:
17	chr22:31741801..31743589-chr22:31885070..31888024,2	K562	blood:
18	chr22:31739363..31741917-chr22:31884740..31886779,4	MCF-7	breast:
19	chr22:31741632..31742462-chr22:31794953..31795605,3	Hela-S3	cervix:
20	chr22:31743200..31743724-chr6:34204462..34205262,2	Hela-S3	cervix:
21	chr19:39897457..39898040-chr22:31742813..31743704,2	Hela-S3	cervix:
22	chr22:31742229..31742964-chr3:183892418..183893034,2	HCT-116	colon:
23	chr22:31741916..31742662-chr9:100745388..100746260,2	Hela-S3	cervix:
24	chr22:31742290..31744009-chr22:31883766..31886602,4	MCF-7	breast:
25	chr2:27545885..27546452-chr22:31741459..31742305,2	Hela-S3	cervix:
26	chr22:31740048..31742045-chr22:32339591..32341543,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213888	TF binding region
PATZ1	TF binding region
ENSG00000213888	CpG island
PATZ1	CpG island
ENSG00000184708	chromatin interactions
ENSG00000182541	chromatin interactions
ENSG00000128245	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000185721	chromatin interactions
ENSG00000119383	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000228839	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000100100	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000245904	chromatin interactions
ENSG00000100983	chromatin interactions
ENSG00000161203	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000128254	chromatin interactions
ENSG00000122986	chromatin interactions
ENSG00000133639	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000115204	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184554744	chr22:31741863-31741864	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs13056926	chr22:31741869-31741870	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs13058255	chr22:31741871-31741872	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs561653165	chr22:31741874-31741875	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs531505302	chr22:31741886-31741887	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs189695071	chr22:31741988-31741989	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs564721310	chr22:31741999-31742000	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs531925519	chr22:31742012-31742013	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs372155508	chr22:31742013-31742014	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs374813678	chr22:31742039-31742040	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs192738217	chr22:31742108-31742109	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs561059881	chr22:31742164-31742165	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs530060786	chr22:31742191-31742192	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs549907685	chr22:31742262-31742263	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs184350357	chr22:31742287-31742288	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs189286057	chr22:31742367-31742368	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs16987163	chr22:31742407-31742408	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs550438180	chr22:31742441-31742442	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs199821955	chr22:31742451-31742452	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs397832107	chr22:31742455-31742456	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs200649456	chr22:31742456-31742457	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs538949317	chr22:31742458-31742459	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs532600976	chr22:31742542-31742543	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs377417856	chr22:31742607-31742608	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs72269131	chr22:31742608-31742609	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs565898775	chr22:31742627-31742628	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs372798161	chr22:31742700-31742701	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs552934282	chr22:31742705-31742706	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs566252184	chr22:31742706-31742707	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs535251341	chr22:31742726-31742727	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs553862637	chr22:31742734-31742735	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs573783958	chr22:31742761-31742762	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs545009109	chr22:31742794-31742795	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs555878111	chr22:31742797-31742798	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs564825268	chr22:31742814-31742815	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs530522495	chr22:31742816-31742817	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs544952213	chr22:31742823-31742824	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs564857628	chr22:31742880-31742881	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs571875172	chr22:31742960-31742961	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs540834077	chr22:31743007-31743008	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs9609261	chr22:31743032-31743033	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530131869	chr22:31743043-31743044	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs550288342	chr22:31743070-31743071	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs4564894	chr22:31743120-31743121	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs147099447	chr22:31743145-31743146	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs563513489	chr22:31743176-31743177	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs182326283	chr22:31743180-31743181	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs552872700	chr22:31743220-31743221	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs566389111	chr22:31743259-31743260	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs12160114	chr22:31743278-31743279	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
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
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	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
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31738400-31743800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr22:31738800-31743800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:31739600-31742000	Flanking Active TSS	Right Ventricle	heart
4	chr22:31740000-31744200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr22:31740600-31743800	Active TSS	Fetal Kidney	kidney
6	chr22:31741000-31743000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:31741000-31743200	Transcr. at gene 5' and 3'	Right Atrium	heart
8	chr22:31741000-31743400	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr22:31741000-31743600	Active TSS	HSMMtube	muscle
10	chr22:31741000-31743800	Active TSS	Brain Substantia Nigra	brain
11	chr22:31741000-31744000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:31741000-31744200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr22:31741200-31742000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:31741200-31742000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
15	chr22:31741200-31742800	Active TSS	Primary T cells from cord blood	blood
16	chr22:31741200-31743000	Active TSS	Osteobl	bone
17	chr22:31741200-31743200	Active TSS	Fetal Thymus	thymus
18	chr22:31741200-31743200	Active TSS	HepG2	liver
19	chr22:31741200-31743400	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr22:31741200-31743600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:31741200-31743600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:31741200-31743600	Active TSS	Brain Angular Gyrus	brain
23	chr22:31741200-31743600	Active TSS	NHDF-Ad	bronchial
24	chr22:31741200-31743800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:31741200-31743800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:31741200-31743800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr22:31741200-31743800	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr22:31741200-31743800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:31741200-31743800	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr22:31741200-31743800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:31741200-31743800	Active TSS	Fetal Intestine Large	intestine
32	chr22:31741200-31743800	Active TSS	Gastric	stomach
33	chr22:31741200-31743800	Active TSS	Ovary	ovary
34	chr22:31741200-31743800	Active TSS	Hela-S3	cervix
35	chr22:31741200-31744000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:31741200-31744000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr22:31741200-31744000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:31741200-31744000	Active TSS	Psoas Muscle	Psoas
39	chr22:31741200-31744200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr22:31741200-31744200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr22:31741200-31744200	Active TSS	Colon Smooth Muscle	Colon
42	chr22:31741200-31744200	Active TSS	Fetal Brain Female	brain
43	chr22:31741400-31742800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr22:31741400-31742800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:31741400-31743000	Active TSS	Pancreas	Pancrea
46	chr22:31741400-31743000	Active TSS	NHEK	skin
47	chr22:31741400-31743200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:31741400-31743400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr22:31741400-31743400	Active TSS	Brain Germinal Matrix	brain
50	chr22:31741400-31743600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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