Variant report

Variant	nsv587664
Chromosome Location	chr21:44585405-44598827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1207)
CpG islands
(count:1346)
Chromatin interactive
region (count:66)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1207 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:44592851-44592960	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:44595101-44595404	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:44596766-44597062	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:44596929-44596995	K562	blood:	n/a	n/a
5	ATF1	chr21:44596768-44597470	K562	blood:	n/a	n/a
6	ATF2	chr21:44597047-44597489	GM12878	blood:	n/a	n/a
7	ATF2	chr21:44596652-44597623	GM12878	blood:	n/a	n/a
8	ATF2	chr21:44584856-44585413	GM12878	blood:	n/a	n/a
9	ATF2	chr21:44596756-44597415	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr21:44584764-44585708	GM12878	blood:	n/a	n/a
11	ATF2	chr21:44593582-44594032	GM12878	blood:	n/a	n/a
12	ATF3	chr21:44596729-44597210	A549	lung:	n/a	n/a
13	ATF3	chr21:44593652-44593932	K562	blood:	n/a	n/a
14	ATF3	chr21:44597168-44597445	K562	blood:	n/a	chr21:44597291-44597298 chr21:44597288-44597299 chr21:44597290-44597304 chr21:44597291-44597299 chr21:44597290-44597301 chr21:44597287-44597302 chr21:44597290-44597298 chr21:44597290-44597310
15	BACH1	chr21:44596839-44597092	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr21:44596797-44597017	K562	blood:	n/a	n/a
17	BACH1	chr21:44593522-44593908	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCL3	chr21:44597824-44598257	GM12878	blood:	n/a	n/a
19	BCLAF1	chr21:44596669-44597084	GM12878	blood:	n/a	n/a
20	BHLHE40	chr21:44593564-44594005	K562	blood:	n/a	chr21:44593793-44593806 chr21:44593789-44593810 chr21:44593795-44593804 chr21:44593795-44593804 chr21:44593796-44593805
21	BHLHE40	chr21:44589502-44589683	HepG2	liver:	n/a	n/a
22	BHLHE40	chr21:44592645-44594009	HepG2	liver:	n/a	chr21:44593793-44593806 chr21:44593789-44593810 chr21:44593795-44593804 chr21:44593795-44593804 chr21:44593796-44593805 chr21:44593223-44593239
23	BHLHE40	chr21:44596796-44597079	HepG2	liver:	n/a	n/a
24	BHLHE40	chr21:44596709-44597612	GM12878	blood:	n/a	n/a
25	BHLHE40	chr21:44584888-44585568	GM12878	blood:	n/a	n/a
26	BHLHE40	chr21:44593339-44594006	GM12878	blood:	n/a	chr21:44593793-44593806 chr21:44593789-44593810 chr21:44593795-44593804 chr21:44593795-44593804 chr21:44593796-44593805
27	BHLHE40	chr21:44595142-44595487	HepG2	liver:	n/a	chr21:44595440-44595456
28	BHLHE40	chr21:44596748-44597078	K562	blood:	n/a	n/a
29	BRCA1	chr21:44593751-44593886	GM12878	blood:	n/a	n/a
30	BRCA1	chr21:44596763-44597056	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr21:44596777-44596893	HepG2	liver:	n/a	n/a
32	BRCA1	chr21:44596755-44597632	Hela-S3	cervix:	n/a	n/a
33	CBX3	chr21:44596685-44597474	K562	blood:	n/a	n/a
34	CBX3	chr21:44593604-44594021	K562	blood:	n/a	n/a
35	CBX3	chr21:44593579-44594016	K562	blood:	n/a	n/a
36	CCNT2	chr21:44593553-44593753	K562	blood:	n/a	n/a
37	CEBPB	chr21:44593775-44593945	A549	lung:	n/a	n/a
38	CEBPB	chr21:44596569-44597231	GM12878	blood:	n/a	n/a
39	CEBPB	chr21:44595099-44595553	HepG2	liver:	n/a	n/a
40	CEBPB	chr21:44596822-44597006	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr21:44595134-44595554	HepG2	liver:	n/a	n/a
42	CEBPB	chr21:44596795-44597204	A549	lung:	n/a	n/a
43	CEBPB	chr21:44588227-44588466	K562	blood:	n/a	n/a
44	CEBPB	chr21:44588295-44588490	HepG2	liver:	n/a	n/a
45	CEBPB	chr21:44584718-44585561	GM12878	blood:	n/a	n/a
46	CEBPB	chr21:44597262-44597375	HepG2	liver:	n/a	n/a
47	CEBPB	chr21:44595153-44595463	HepG2	liver:	n/a	n/a
48	CEBPB	chr21:44596740-44597624	Hela-S3	cervix:	n/a	n/a
49	CEBPD	chr21:44591593-44591872	HepG2	liver:	n/a	n/a
50	CHD1	chr21:44593684-44593878	GM12878	blood:	n/a	n/a

(count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44589067-44589117	SKMC	muscle:	n/a
2	chr21:44589163-44589213	MCF-7	breast:	n/a
3	chr21:44590650-44590700	H1-hESC	embryonic stem cell:	embryo
4	chr21:44588747-44588797	AG09319	gingival:	n/a
5	chr21:44589067-44589117	SKMC	muscle:	n/a
6	chr21:44589163-44589213	MCF-7	breast:	n/a
7	chr21:44590650-44590700	H1-hESC	embryonic stem cell:	embryo
8	chr21:44588747-44588797	AG09319	gingival:	n/a
9	chr21:44590825-44590875	Hela-S3	cervix:	n/a
10	chr21:44585506-44585556	NH-A	brain:	n/a
11	chr21:44590825-44590875	A549	lung:	n/a
12	chr21:44593642-44593692	HEEpiC	esophagus:	n/a
13	chr21:44589011-44589061	HRCEpiC	kidney:	n/a
14	chr21:44588985-44589035	PrEC	prostate:	n/a
15	chr21:44592374-44592424	NT2-D1	testis:	n/a
16	chr21:44596364-44596414	SK-N-MC	brain:	n/a
17	chr21:44588747-44588797	AG09309	skin:	n/a
18	chr21:44589011-44589061	NHBE	bronchial:	n/a
19	chr21:44596364-44596414	GM12891	blood:	n/a
20	chr21:44589067-44589117	HMEC	breast:	n/a
21	chr21:44593642-44593692	ProgFib	skin:	n/a
22	chr21:44590379-44590429	HMEC	breast:	n/a
23	chr21:44589030-44589080	NT2-D1	testis:	n/a
24	chr21:44592374-44592424	SKMC	muscle:	n/a
25	chr21:44589331-44589381	SK-N-SH_RA	brain:	n/a
26	chr21:44588552-44588602	NT2-D1	testis:	n/a
27	chr21:44590825-44590875	GM12891	blood:	n/a
28	chr21:44588552-44588602	HCPEpiC	choroid plexus:	n/a
29	chr21:44588834-44588884	GM12891	blood:	n/a
30	chr21:44592883-44592933	SAEC	small airway:	n/a
31	chr21:44589128-44589178	AG09309	skin:	n/a
32	chr21:44596364-44596414	GM12892	blood:	n/a
33	chr21:44588950-44589000	BJ	skin:	n/a
34	chr21:44585506-44585556	HCPEpiC	choroid plexus:	n/a
35	chr21:44588985-44589035	HRPEpiC	eye:	n/a
36	chr21:44596364-44596414	SK-N-SH	brain:	n/a
37	chr21:44590379-44590429	RPTEC	kidney:	n/a
38	chr21:44592883-44592933	HCT-116	colon:	n/a
39	chr21:44593642-44593692	AG09319	gingival:	n/a
40	chr21:44589163-44589213	IMR90	lung:	fetal
41	chr21:44590379-44590429	MCF10A-Er-Src	breast:	n/a
42	chr21:44590650-44590700	HCF	heart:	n/a
43	chr21:44588747-44588797	Hela-S3	cervix:	n/a
44	chr21:44591013-44591063	RPTEC	kidney:	n/a
45	chr21:44590650-44590700	SK-N-SH_RA	brain:	n/a
46	chr21:44588834-44588884	NB4	blood:	n/a
47	chr21:44589331-44589381	HCT-116	colon:	n/a
48	chr21:44589067-44589117	GM19239	blood:	n/a
49	chr21:44590379-44590429	AoSMC	blood vessel:	n/a
50	chr21:44593708-44593758	HUVEC	blood vessel:	n/a

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:44597633..44599530-chr21:44922531..44924601,2	MCF-7	breast:
2	chr21:44573745..44576228-chr21:44592939..44595505,3	K562	blood:
3	chr21:44596870..44597527-chr21:44832462..44833303,2	Hela-S3	cervix:
4	chr21:44586813..44589241-chr21:44845396..44848609,3	MCF-7	breast:
5	chr21:44596497..44597381-chr21:44847015..44847854,5	K562	blood:
6	chr21:44596583..44597347-chr21:44905726..44906251,2	MCF-7	breast:
7	chr21:44595907..44598227-chr21:44599190..44600855,2	MCF-7	breast:
8	chr21:44596467..44597366-chr21:45066269..45067210,6	K562	blood:
9	chr21:44558875..44559792-chr21:44588138..44589057,3	MCF-7	breast:
10	chr21:44596413..44596968-chr21:44866121..44867152,3	K562	blood:
11	chr21:44584117..44588327-chr21:44591894..44594890,3	K562	blood:
12	chr21:44595827..44599164-chr21:44845631..44847666,4	MCF-7	breast:
13	chr21:44596361..44597517-chr21:45066264..45067091,4	MCF-7	breast:
14	chr21:44596809..44598374-chr21:45064063..45066950,2	K562	blood:
15	chr21:44597096..44598685-chr21:44750362..44752904,2	MCF-7	breast:
16	chr21:44596666..44597314-chr21:44816535..44817335,2	MCF-7	breast:
17	chr21:44593265..44594962-chr21:44842242..44844162,2	K562	blood:
18	chr21:44558785..44559689-chr21:44588340..44588847,2	MCF-7	breast:
19	chr21:44595975..44600241-chr21:44843202..44849395,11	MCF-7	breast:
20	chr21:44590676..44595436-chr21:44598084..44601687,4	K562	blood:
21	chr21:44588285..44592993-chr21:44594253..44598657,5	MCF-7	breast:
22	chr21:44595798..44598770-chr21:45063265..45067849,4	MCF-7	breast:
23	chr21:44585524..44588327-chr21:44591894..44594890,2	K562	blood:
24	chr21:44586707..44588731-chr21:44590520..44593173,2	MCF-7	breast:
25	chr21:44558793..44559748-chr21:44595983..44597245,4	MCF-7	breast:
26	chr21:44596450..44597355-chr21:44683459..44684057,2	MCF-7	breast:
27	chr21:44582998..44585767-chr21:45009273..45011214,2	MCF-7	breast:
28	chr21:44588420..44591147-chr21:44596861..44598398,2	MCF-7	breast:
29	chr21:44598660..44599239-chr21:44846133..44847235,3	MCF-7	breast:
30	chr21:44596408..44597544-chr21:44922093..44923863,11	MCF-7	breast:
31	chr21:44594966..44597591-chr21:44845721..44847643,2	K562	blood:
32	chr21:44595418..44598407-chr21:45007465..45009708,2	MCF-7	breast:
33	chr21:44597050..44598895-chr21:44866871..44869287,2	MCF-7	breast:
34	chr21:44597167..44598866-chr21:44766112..44768773,2	MCF-7	breast:
35	chr21:44573064..44575230-chr21:44592925..44595203,2	MCF-7	breast:
36	chr21:44596910..44599943-chr21:44921245..44924609,4	MCF-7	breast:
37	chr21:44593589..44596028-chr6:20403281..20405079,2	K562	blood:
38	chr21:44591547..44593428-chr21:44700375..44702844,2	K562	blood:
39	chr21:44596353..44597867-chr21:44760877..44763023,2	MCF-7	breast:
40	chr21:44595103..44597994-chr21:45059971..45061669,2	MCF-7	breast:
41	chr21:44595506..44597559-chr21:44837131..44839693,2	MCF-7	breast:
42	chr21:44598282..44598954-chr21:44689291..44689941,2	MCF-7	breast:
43	chr21:44582210..44584160-chr21:44594583..44597207,2	MCF-7	breast:
44	chr21:44595581..44597977-chr21:44722947..44725523,2	K562	blood:
45	chr21:44584117..44588327-chr21:44591894..44594890,3	K562	blood:
46	chr21:44596001..44597609-chr21:45065167..45067189,15	MCF-7	breast:
47	chr21:44595496..44597017-chr21:44829022..44831353,2	MCF-7	breast:
48	chr21:44596396..44597313-chr21:45065147..45065707,2	MCF-7	breast:
49	chr21:44313359..44315937-chr21:44587596..44590117,2	K562	blood:
50	chr21:44596549..44597371-chr21:45065165..45066013,2	K562	blood:

No data

Variant related genes	Relation type
CRYAA	TF binding region
ENSG00000228120	TF binding region
CRYAA	CpG island
ENSG00000228120	CpG island
ENSG00000160202	chromatin interactions
ENSG00000188660	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000134297	chromatin interactions
ENSG00000228120	chromatin interactions
ENSG00000177119	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000160194	chromatin interactions
ENSG00000160201	chromatin interactions
ENSG00000237864	chromatin interactions
ENSG00000112242	chromatin interactions

Extended variants
information (count: 699 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:699 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs879648	chr21:44585405-44585406	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs535770064	chr21:44585419-44585420	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs192416061	chr21:44585509-44585510	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
4	rs547997136	chr21:44585553-44585554	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
5	rs146931322	chr21:44585554-44585555	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
6	rs558199509	chr21:44585560-44585561	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs576542777	chr21:44585569-44585570	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs137952377	chr21:44585579-44585580	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs368843545	chr21:44585602-44585603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs555719829	chr21:44585612-44585613	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs36067897	chr21:44585615-44585616	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541752310	chr21:44585643-44585644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs560408171	chr21:44585668-44585669	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs572099351	chr21:44585699-44585700	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs575771575	chr21:44585703-44585704	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs143513590	chr21:44585715-44585716	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs564539371	chr21:44585717-44585718	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs543007718	chr21:44585827-44585828	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs531825478	chr21:44585904-44585905	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs562854026	chr21:44585954-44585955	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs147175128	chr21:44585955-44585956	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs80308546	chr21:44585976-44585977	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs76652809	chr21:44586027-44586028	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs547727007	chr21:44586078-44586079	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs566381822	chr21:44586080-44586081	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs539607272	chr21:44586091-44586092	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs542184083	chr21:44586118-44586119	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs551543492	chr21:44586131-44586132	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs882387	chr21:44586168-44586169	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs537546577	chr21:44586185-44586186	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs369414783	chr21:44586458-44586459	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs148240758	chr21:44586461-44586462	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs184830580	chr21:44586462-44586463	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs535438365	chr21:44586475-44586476	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs111865425	chr21:44586501-44586502	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs552846096	chr21:44586533-44586534	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs567786761	chr21:44586534-44586535	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs567514552	chr21:44586540-44586541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546153929	chr21:44586549-44586550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538463986	chr21:44586553-44586554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376117910	chr21:44586557-44586558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576344570	chr21:44586660-44586661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141269824	chr21:44586661-44586662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13049222	chr21:44586671-44586672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186630592	chr21:44586685-44586686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547783178	chr21:44586700-44586701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559519393	chr21:44586714-44586715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191468501	chr21:44586722-44586723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551702144	chr21:44586802-44586803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569907955	chr21:44586804-44586805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Lymphoma	21487021	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44551800-44593200	Weak transcription	Right Atrium	heart
2	chr21:44579000-44585800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr21:44579800-44586400	Enhancers	Fetal Muscle Leg	muscle
4	chr21:44580200-44585600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr21:44582400-44585600	Weak transcription	Colonic Mucosa	Colon
6	chr21:44582400-44593200	Weak transcription	Pancreas	Pancrea
7	chr21:44582400-44593600	Weak transcription	Gastric	stomach
8	chr21:44582800-44586600	Enhancers	HepG2	liver
9	chr21:44583000-44588200	Weak transcription	Lung	lung
10	chr21:44583200-44587400	Enhancers	Thymus	Thymus
11	chr21:44583200-44588200	Weak transcription	Spleen	Spleen
12	chr21:44583200-44588600	Enhancers	Fetal Thymus	thymus
13	chr21:44583200-44592800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr21:44583200-44593200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr21:44583200-44593400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:44583400-44585600	Weak transcription	Liver	Liver
17	chr21:44583400-44585800	Weak transcription	Fetal Intestine Large	intestine
18	chr21:44583600-44585800	Weak transcription	Fetal Intestine Small	intestine
19	chr21:44584000-44585600	Weak transcription	Fetal Brain Male	brain
20	chr21:44584000-44586000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr21:44584000-44588400	Weak transcription	Placenta	Placenta
22	chr21:44584200-44585600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr21:44584200-44586200	Enhancers	Brain Germinal Matrix	brain
24	chr21:44584200-44588200	Weak transcription	Hela-S3	cervix
25	chr21:44584400-44586000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr21:44584400-44586400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:44584800-44586000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr21:44584800-44586400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr21:44584800-44586400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr21:44584800-44586400	Flanking Active TSS	GM12878-XiMat	blood
31	chr21:44585000-44585600	Enhancers	A549	lung
32	chr21:44585000-44585800	Enhancers	Brain Hippocampus Middle	brain
33	chr21:44585000-44585800	Enhancers	Fetal Brain Female	brain
34	chr21:44585000-44586000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr21:44585000-44586000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr21:44585000-44586200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr21:44585000-44586200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr21:44585000-44586200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr21:44585000-44586400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr21:44585000-44586400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr21:44585000-44586400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr21:44585000-44586400	Enhancers	Brain Substantia Nigra	brain
43	chr21:44585200-44585800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr21:44585200-44586000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:44585200-44586200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr21:44585200-44586400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:44585200-44586400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr21:44585200-44586600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:44585400-44585600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr21:44585400-44585800	Enhancers	Primary B cells from peripheral blood	blood

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