Variant report

Variant	esv3420994
Chromosome Location	chr21:46706574-46708272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:486)
CpG islands
(count:857)
Chromatin interactive
region (count:16)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr21:46707639-46708071	K562	blood:	n/a	n/a
2	ATF3	chr21:46707758-46708132	GM12878	blood:	n/a	chr21:46707839-46707848
3	ATF3	chr21:46707647-46708102	A549	lung:	n/a	chr21:46707839-46707848
4	ATF3	chr21:46707660-46708203	K562	blood:	n/a	chr21:46707839-46707848
5	BACH1	chr21:46707621-46708214	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr21:46706842-46707007	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr21:46707577-46708186	GM12878	blood:	n/a	n/a
8	BHLHE40	chr21:46707752-46708081	K562	blood:	n/a	n/a
9	BHLHE40	chr21:46707715-46708185	GM12878	blood:	n/a	n/a
10	BRCA1	chr21:46708059-46708108	GM12878	blood:	n/a	n/a
11	BRCA1	chr21:46707735-46708089	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr21:46707642-46708150	K562	blood:	n/a	n/a
13	CCNT2	chr21:46706598-46706798	K562	blood:	n/a	n/a
14	CCNT2	chr21:46707606-46708180	K562	blood:	n/a	chr21:46707839-46707848
15	CEBPB	chr21:46707635-46708069	IMR90	lung:	n/a	n/a
16	CEBPB	chr21:46707614-46708045	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr21:46707603-46708084	HepG2	liver:	n/a	n/a
18	CEBPB	chr21:46707734-46707980	HepG2	liver:	n/a	n/a
19	CEBPB	chr21:46707665-46708044	K562	blood:	n/a	n/a
20	CEBPB	chr21:46707632-46707879	HepG2	liver:	n/a	n/a
21	CEBPD	chr21:46707533-46708209	HepG2	liver:	n/a	n/a
22	CHD1	chr21:46708007-46708121	GM12878	blood:	n/a	n/a
23	CHD1	chr21:46707332-46709487	IMR90	lung:	n/a	chr21:46708568-46708578 chr21:46708335-46708345 chr21:46707837-46707847
24	CHD2	chr21:46707542-46708103	GM12878	blood:	n/a	chr21:46707837-46707847
25	CHD2	chr21:46707559-46708098	H1-hESC	embryonic stem cell:	n/a	chr21:46707837-46707847
26	CHD2	chr21:46707483-46708191	Hela-S3	cervix:	n/a	chr21:46707837-46707847
27	CHD2	chr21:46707632-46708134	K562	blood:	n/a	chr21:46707837-46707847
28	CHD2	chr21:46707714-46708022	HepG2	liver:	n/a	chr21:46707837-46707847
29	CREB1	chr21:46707470-46708118	A549	lung:	n/a	n/a
30	CREB1	chr21:46707543-46708230	GM12878	blood:	n/a	n/a
31	CREB1	chr21:46706814-46707242	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr21:46707417-46708325	HepG2	liver:	n/a	n/a
33	CREB1	chr21:46707453-46708231	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr21:46707573-46708194	K562	blood:	n/a	n/a
35	CREB1	chr21:46707550-46708086	ECC-1	luminal epithelium:	n/a	n/a
36	CREB1	chr21:46707632-46707948	A549	lung:	n/a	n/a
37	CREB1	chr21:46707581-46708149	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr21:46707640-46707790	AG09319	gingival:	n/a	n/a
39	CTCF	chr21:46707660-46707810	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr21:46707875-46707885	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr21:46706700-46706850	HRE	kidney:	n/a	n/a
42	CTCF	chr21:46707986-46708003	GM10266	blood:	n/a	n/a
43	CTCF	chr21:46708000-46708150	GM12865	blood:	n/a	n/a
44	CTCF	chr21:46707600-46707750	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr21:46706680-46706830	AG04449	skin:	n/a	n/a
46	CTCF	chr21:46707620-46707770	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr21:46707660-46707810	HEK293	kidney:	n/a	n/a
48	CTCF	chr21:46707860-46707874	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr21:46707660-46707810	AG04449	skin:	n/a	n/a
50	CTCF	chr21:46707620-46707770	HBMEC	blood vessel:	n/a	n/a

(count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46708178-46708228	HEK293	kidney:	embryo
2	chr21:46708029-46708079	GM12892	blood:	n/a
3	chr21:46707951-46708001	AG04450	lung:	fetal
4	chr21:46708178-46708228	HEK293	kidney:	embryo
5	chr21:46708029-46708079	GM12892	blood:	n/a
6	chr21:46707951-46708001	AG04450	lung:	fetal
7	chr21:46707781-46707831	HPAEpiC	pulmonary alveolar:	n/a
8	chr21:46707878-46707928	SK-N-MC	brain:	n/a
9	chr21:46707781-46707831	HCM	heart:	n/a
10	chr21:46707857-46707907	H1-hESC	embryonic stem cell:	embryo
11	chr21:46707857-46707907	HCM	heart:	n/a
12	chr21:46708041-46708091	Hela-S3	cervix:	n/a
13	chr21:46707012-46707062	CMK	blood:	n/a
14	chr21:46706579-46706629	AG04450	lung:	fetal
15	chr21:46707781-46707831	MCF-7	breast:	n/a
16	chr21:46707824-46707874	LNCaP	prostate:	n/a
17	chr21:46707781-46707831	ECC-1	luminal epithelium:	n/a
18	chr21:46708041-46708091	GM12892	blood:	n/a
19	chr21:46708041-46708091	HPAEpiC	pulmonary alveolar:	n/a
20	chr21:46707012-46707062	T-47D	breast:	n/a
21	chr21:46706579-46706629	SAEC	small airway:	n/a
22	chr21:46707781-46707831	H1-hESC	embryonic stem cell:	embryo
23	chr21:46707857-46707907	SKMC	muscle:	n/a
24	chr21:46706579-46706629	GM12892	blood:	n/a
25	chr21:46707857-46707907	HCF	heart:	n/a
26	chr21:46708029-46708079	HCM	heart:	n/a
27	chr21:46707878-46707928	IMR90	lung:	fetal
28	chr21:46708178-46708228	PANC-1	pancreas:	n/a
29	chr21:46707857-46707907	HEEpiC	esophagus:	n/a
30	chr21:46707842-46707892	HUVEC	blood vessel:	n/a
31	chr21:46707872-46707922	AG04449	skin:	fetal
32	chr21:46707012-46707062	Caco-2	colon:	n/a
33	chr21:46707857-46707907	MCF-7	breast:	n/a
34	chr21:46707951-46708001	LNCaP	prostate:	n/a
35	chr21:46707857-46707907	NHDF-neo	bronchial:	n/a
36	chr21:46708029-46708079	Jurkat	blood:	n/a
37	chr21:46708041-46708091	LNCaP	prostate:	n/a
38	chr21:46706579-46706629	BJ	skin:	n/a
39	chr21:46707842-46707892	HepG2	liver:	n/a
40	chr21:46707872-46707922	PANC-1	pancreas:	n/a
41	chr21:46707878-46707928	HPAEpiC	pulmonary alveolar:	n/a
42	chr21:46707951-46708001	GM12892	blood:	n/a
43	chr21:46706579-46706629	IMR90	lung:	fetal
44	chr21:46708178-46708228	BJ	skin:	n/a
45	chr21:46707012-46707062	PANC-1	pancreas:	n/a
46	chr21:46708041-46708091	HCF	heart:	n/a
47	chr21:46707878-46707928	NB4	blood:	n/a
48	chr21:46708029-46708079	HRE	kidney:	n/a
49	chr21:46706820-46706870	AoSMC	blood vessel:	n/a
50	chr21:46708178-46708228	IMR90	lung:	fetal

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46706857..46709577-chr21:46709955..46714044,8	K562	blood:
2	chr21:46706241..46708777-chr21:46961414..46964392,3	MCF-7	breast:
3	chr21:46707102..46709739-chr21:46924604..46928749,4	K562	blood:
4	chr21:46707942..46709633-chr21:46962213..46963718,2	MCF-7	breast:
5	chr21:46708041..46709626-chr21:46889364..46891279,2	MCF-7	breast:
6	chr21:46689925..46691815-chr21:46705952..46709457,3	K562	blood:
7	chr21:46698591..46703521-chr21:46706207..46708797,6	K562	blood:
8	chr21:46492507..46498258-chr21:46706665..46711571,8	K562	blood:
9	chr21:46708105..46709670-chr21:46840415..46842231,2	MCF-7	breast:
10	chr21:46706802..46709243-chr21:46824700..46827773,3	MCF-7	breast:
11	chr21:46689820..46691425-chr21:46707957..46710383,2	K562	blood:
12	chr21:46494154..46496164-chr21:46707875..46710753,3	K562	blood:
13	chr21:46707421..46709618-chr21:46710328..46714044,7	K562	blood:
14	chr21:46706028..46707678-chr21:46824920..46827021,2	MCF-7	breast:
15	chr21:46558828..46560787-chr21:46708132..46710306,2	K562	blood:
16	chr21:46703766..46705342-chr21:46705626..46707711,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADARB1-3	chr21:46707976-46708080	XLOC_013981
2	lnc-ADARB1-3	chr21:46707967-46708159	ENSG00000215447
3	lnc-ADARB1-3	chr21:46707967-46708159	NONHSAT082933
4	lnc-ADARB1-3	chr21:46708063-46708080	XLOC_013981
5	lnc-ADARB1-3	chr21:46707977-46708080	XLOC_013981
6	lnc-ADARB1-3	chr21:46707967-46708159	XLOC_013981
7	lnc-ADARB1-3	chr21:46708015-46708080	XLOC_013981
8	lnc-ADARB1-3	chr21:46708125-46708159	XLOC_013981
9	lnc-ADARB1-3	chr21:46707965-46708159	XLOC_013981

No data

Variant related genes	Relation type
LINC00205	TF binding region
ENSG00000215447	TF binding region
POFUT2	TF binding region
LINC00205	CpG island
ENSG00000215447	CpG island
POFUT2	CpG island
ENSG00000235374	chromatin interactions
ENSG00000223768	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000186866	chromatin interactions
ERI1	miRNA target sites
TRIM29	miRNA target sites

Extended variants
information (count: 56 )
Associated
traits (count: 94 )

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	rs576916547	chr21:46706576-46706577	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs374254360	chr21:46706581-46706582	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs544288746	chr21:46706610-46706611	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs556314418	chr21:46706632-46706633	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs574504200	chr21:46706644-46706645	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs117082966	chr21:46706649-46706650	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs560336395	chr21:46706659-46706660	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs527588170	chr21:46706687-46706688	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs546085509	chr21:46706709-46706710	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs564898545	chr21:46706727-46706728	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs73236082	chr21:46706732-46706733	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs199918354	chr21:46706768-46706769	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs568992418	chr21:46706791-46706792	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs199687483	chr21:46706795-46706796	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs551929985	chr21:46706853-46706854	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs548491350	chr21:46706918-46706919	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs112043097	chr21:46706919-46706920	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs534185628	chr21:46707061-46707062	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs113718151	chr21:46707171-46707172	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs552919698	chr21:46707337-46707338	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs570432468	chr21:46707338-46707339	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs7279129	chr21:46707367-46707368	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs556231019	chr21:46707381-46707382	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs574439321	chr21:46707400-46707401	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs535584214	chr21:46707471-46707472	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs190868720	chr21:46707475-46707476	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs553640150	chr21:46707485-46707486	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs572217409	chr21:46707554-46707555	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs545661874	chr21:46707570-46707571	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs564063734	chr21:46707572-46707573	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs575961694	chr21:46707607-46707608	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs548542075	chr21:46707617-46707618	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs544189037	chr21:46707629-46707630	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs371337628	chr21:46707688-46707689	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs562946451	chr21:46707690-46707691	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs373102159	chr21:46707734-46707735	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs530089816	chr21:46707750-46707751	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs377224822	chr21:46707760-46707761	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs548671933	chr21:46707780-46707781	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs370576674	chr21:46707792-46707793	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs182054010	chr21:46707794-46707795	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs552831711	chr21:46707799-46707800	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs200209368	chr21:46707823-46707824	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs538579817	chr21:46707839-46707840	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs2297286	chr21:46707897-46707898	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs12627014	chr21:46707916-46707917	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535164280	chr21:46707920-46707921	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs553849885	chr21:46707922-46707923	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs373925792	chr21:46707932-46707933	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs539226180	chr21:46707939-46707940	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46669200-46706600	Weak transcription	Right Atrium	heart
2	chr21:46687800-46706600	Weak transcription	HMEC	breast
3	chr21:46693200-46706600	Strong transcription	Primary T cells from cord blood	blood
4	chr21:46700600-46706600	Weak transcription	Psoas Muscle	Psoas
5	chr21:46700800-46706600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:46704800-46706600	Weak transcription	A549	lung
7	chr21:46705600-46706600	Weak transcription	Brain Substantia Nigra	brain
8	chr21:46705600-46706600	Enhancers	Pancreas	Pancrea
9	chr21:46705800-46706600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:46705800-46706600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr21:46705800-46706600	Weak transcription	Esophagus	oesophagus
12	chr21:46706000-46706600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:46706000-46706600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr21:46706000-46706600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr21:46706000-46706600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr21:46706000-46706600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:46706000-46706600	Weak transcription	Brain Hippocampus Middle	brain
18	chr21:46706000-46706600	Weak transcription	Colonic Mucosa	Colon
19	chr21:46706000-46706600	Weak transcription	Colon Smooth Muscle	Colon
20	chr21:46706000-46706600	Weak transcription	Fetal Thymus	thymus
21	chr21:46706000-46706600	Weak transcription	Gastric	stomach
22	chr21:46706000-46706600	Weak transcription	Left Ventricle	heart
23	chr21:46706000-46706600	Weak transcription	Right Ventricle	heart
24	chr21:46706000-46706600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr21:46706000-46706600	Weak transcription	Thymus	Thymus
26	chr21:46706000-46706800	Weak transcription	Aorta	Aorta
27	chr21:46706000-46706800	Transcr. at gene 5' and 3'	NHLF	lung
28	chr21:46706000-46707200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr21:46706000-46707200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr21:46706000-46707400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr21:46706200-46706600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:46706200-46706600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:46706200-46706600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr21:46706200-46706600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr21:46706200-46706600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr21:46706200-46706600	Weak transcription	Fetal Lung	lung
37	chr21:46706200-46706600	Weak transcription	Lung	lung
38	chr21:46706200-46706600	Weak transcription	Ovary	ovary
39	chr21:46706200-46706600	Weak transcription	Spleen	Spleen
40	chr21:46706200-46706800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:46706200-46706800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr21:46706200-46707200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr21:46706200-46707400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr21:46706200-46707600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr21:46706200-46708600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr21:46706400-46706600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr21:46706400-46706600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:46706400-46706600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:46706400-46706600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr21:46706400-46706600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung

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