Variant report

Variant	esv1850701
Chromosome Location	chr21:45700641-45724055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1648)
CpG islands
(count:2322)
Chromatin interactive
region (count:85)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1648 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45717672-45717861	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:45717579-45717833	K562	blood:	n/a	n/a
3	ARID3A	chr21:45723419-45723660	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:45720380-45720411	HepG2	liver:	n/a	n/a
5	ATF2	chr21:45718972-45719734	GM12878	blood:	n/a	n/a
6	ATF2	chr21:45719133-45719688	GM12878	blood:	n/a	n/a
7	ATF2	chr21:45717501-45717906	GM12878	blood:	n/a	n/a
8	ATF3	chr21:45717606-45717835	K562	blood:	n/a	n/a
9	BACH1	chr21:45719065-45719257	K562	blood:	n/a	n/a
10	BACH1	chr21:45719536-45719733	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr21:45717562-45717677	K562	blood:	n/a	n/a
12	BACH1	chr21:45705844-45705867	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr21:45716137-45716352	GM12878	blood:	n/a	n/a
14	BCL3	chr21:45718122-45718645	GM12878	blood:	n/a	n/a
15	BCL3	chr21:45718241-45718638	GM12878	blood:	n/a	n/a
16	BCLAF1	chr21:45719008-45719813	GM12878	blood:	n/a	chr21:45719409-45719422
17	BCLAF1	chr21:45717454-45717924	GM12878	blood:	n/a	chr21:45717492-45717501 chr21:45717488-45717501
18	BHLHE40	chr21:45717592-45717886	HepG2	liver:	n/a	n/a
19	BHLHE40	chr21:45717554-45718062	GM12878	blood:	n/a	n/a
20	BHLHE40	chr21:45719045-45719870	K562	blood:	n/a	chr21:45719589-45719605
21	BHLHE40	chr21:45722603-45722927	HepG2	liver:	n/a	n/a
22	BHLHE40	chr21:45717582-45717889	K562	blood:	n/a	n/a
23	BHLHE40	chr21:45702375-45702509	GM12878	blood:	n/a	n/a
24	BHLHE40	chr21:45719039-45719737	HepG2	liver:	n/a	chr21:45719589-45719605
25	BHLHE40	chr21:45721621-45721919	GM12878	blood:	n/a	chr21:45721742-45721751 chr21:45721741-45721750 chr21:45721741-45721750
26	BHLHE40	chr21:45718327-45718490	GM12878	blood:	n/a	n/a
27	BHLHE40	chr21:45716162-45716350	GM12878	blood:	n/a	n/a
28	BHLHE40	chr21:45718957-45720073	GM12878	blood:	n/a	chr21:45719589-45719605
29	BRCA1	chr21:45717557-45717777	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr21:45714430-45714756	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr21:45722612-45722693	HepG2	liver:	n/a	n/a
32	BRCA1	chr21:45717452-45717741	HepG2	liver:	n/a	n/a
33	BRCA1	chr21:45719712-45719741	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr21:45715147-45715458	Hela-S3	cervix:	n/a	n/a
35	CCNT2	chr21:45712225-45712243	K562	blood:	n/a	n/a
36	CCNT2	chr21:45719454-45720776	K562	blood:	n/a	n/a
37	CEBPB	chr21:45722601-45722970	HepG2	liver:	n/a	chr21:45722790-45722801
38	CEBPB	chr21:45719156-45719353	HepG2	liver:	n/a	chr21:45719255-45719266 chr21:45719253-45719264 chr21:45719253-45719266
39	CEBPB	chr21:45717899-45718041	HepG2	liver:	n/a	n/a
40	CEBPB	chr21:45715044-45715575	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr21:45722652-45722905	HepG2	liver:	n/a	chr21:45722790-45722801
42	CEBPB	chr21:45722683-45722851	HepG2	liver:	n/a	chr21:45722790-45722801
43	CEBPB	chr21:45718935-45719872	GM12878	blood:	n/a	chr21:45719255-45719266 chr21:45719253-45719264 chr21:45719253-45719266
44	CEBPB	chr21:45717623-45718256	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr21:45717808-45718022	A549	lung:	n/a	n/a
46	CEBPB	chr21:45722596-45722970	HepG2	liver:	n/a	chr21:45722790-45722801
47	CEBPB	chr21:45722647-45722851	K562	blood:	n/a	chr21:45722790-45722801
48	CEBPB	chr21:45722498-45722869	MCF-7	breast:	n/a	chr21:45722790-45722801
49	CEBPB	chr21:45717634-45718162	IMR90	lung:	n/a	n/a
50	CEBPB	chr21:45717656-45718612	GM12878	blood:	n/a	n/a

(count:2322 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45717733-45717783	SAEC	small airway:	n/a
2	chr21:45705694-45705744	AG09319	gingival:	n/a
3	chr21:45710206-45710256	GM12878	blood:	n/a
4	chr21:45702039-45702089	Hepatocyte	liver:	n/a
5	chr21:45717733-45717783	SAEC	small airway:	n/a
6	chr21:45705694-45705744	AG09319	gingival:	n/a
7	chr21:45710206-45710256	GM12878	blood:	n/a
8	chr21:45702039-45702089	Hepatocyte	liver:	n/a
9	chr21:45705429-45705479	HEK293	kidney:	embryo
10	chr21:45713510-45713560	AG10803	skin:	n/a
11	chr21:45713064-45713114	PrEC	prostate:	n/a
12	chr21:45709595-45709645	NHDF-neo	bronchial:	n/a
13	chr21:45713719-45713769	HepG2	liver:	n/a
14	chr21:45705742-45705792	HCF	heart:	n/a
15	chr21:45709676-45709726	BE2_C	brain:	n/a
16	chr21:45702039-45702089	GM12878	blood:	n/a
17	chr21:45719804-45719854	NH-A	brain:	n/a
18	chr21:45709676-45709726	HEK293	kidney:	embryo
19	chr21:45713510-45713560	RPTEC	kidney:	n/a
20	chr21:45713704-45713754	SAEC	small airway:	n/a
21	chr21:45720651-45720701	HRE	kidney:	n/a
22	chr21:45710296-45710346	Hela-S3	cervix:	n/a
23	chr21:45705618-45705668	A549	lung:	n/a
24	chr21:45719797-45719847	HCT-116	colon:	n/a
25	chr21:45720651-45720701	HIPEpiC	eye:	n/a
26	chr21:45705618-45705668	NH-A	brain:	n/a
27	chr21:45705740-45705790	T-47D	breast:	n/a
28	chr21:45709676-45709726	PFSK-1	brain:	n/a
29	chr21:45717733-45717783	SKMC	muscle:	n/a
30	chr21:45705740-45705790	BJ	skin:	n/a
31	chr21:45712938-45712988	RPTEC	kidney:	n/a
32	chr21:45722771-45722821	HEEpiC	esophagus:	n/a
33	chr21:45706101-45706151	NHBE	bronchial:	n/a
34	chr21:45719404-45719454	GM12878	blood:	n/a
35	chr21:45710296-45710346	SK-N-SH_RA	brain:	n/a
36	chr21:45709595-45709645	GM12892	blood:	n/a
37	chr21:45717055-45717105	CMK	blood:	n/a
38	chr21:45709676-45709726	SK-N-SH_RA	brain:	n/a
39	chr21:45707344-45707394	HAEpiC	amniotic membrane:	n/a
40	chr21:45710296-45710346	RPTEC	kidney:	n/a
41	chr21:45722068-45722118	A549	lung:	n/a
42	chr21:45713704-45713754	HRCEpiC	kidney:	n/a
43	chr21:45717733-45717783	HL-60	blood:	n/a
44	chr21:45706043-45706093	SAEC	small airway:	n/a
45	chr21:45705740-45705790	HUVEC	blood vessel:	n/a
46	chr21:45720651-45720701	RPTEC	kidney:	n/a
47	chr21:45705175-45705225	RPTEC	kidney:	n/a
48	chr21:45722771-45722821	AG04449	skin:	fetal
49	chr21:45705721-45705771	PrEC	prostate:	n/a
50	chr21:45702039-45702089	NH-A	brain:	n/a

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:45703655..45709073-chr21:45718662..45721905,6	MCF-7	breast:
2	chr20:62669928..62670791-chr21:45719751..45720327,2	Hela-S3	cervix:
3	chr21:45720013..45721648-chr21:45874354..45876678,2	MCF-7	breast:
4	chr21:45431787..45433957-chr21:45722035..45724277,2	MCF-7	breast:
5	chr21:45719757..45722045-chr21:45874863..45877372,2	MCF-7	breast:
6	chr11:93474471..93475047-chr21:45719657..45720548,2	Hela-S3	cervix:
7	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
8	chr21:45675362..45677457-chr21:45707030..45709484,2	K562	blood:
9	chr21:45577622..45580238-chr21:45720220..45722935,2	MCF-7	breast:
10	chr21:45722675..45723244-chr21:45907390..45907958,2	MCF-7	breast:
11	chr21:45659418..45662938-chr21:45698078..45703771,5	MCF-7	breast:
12	chr21:45549496..45557767-chr21:45717764..45723476,12	K562	blood:
13	chr21:45707337..45709850-chr21:45719040..45720575,2	K562	blood:
14	chr20:49341209..49343163-chr21:45716072..45718557,2	MCF-7	breast:
15	chr21:45667331..45671337-chr21:45714492..45717750,6	MCF-7	breast:
16	chr21:45598378..45600609-chr21:45712200..45713820,2	MCF-7	breast:
17	chr21:45719368..45721922-chr21:45924862..45927430,2	MCF-7	breast:
18	chr15:91475339..91476030-chr21:45719792..45720418,2	MCF-7	breast:
19	chr21:45610065..45610976-chr21:45717590..45718626,4	MCF-7	breast:
20	chr21:45698387..45700699-chr21:45707290..45709157,2	MCF-7	breast:
21	chr21:45533330..45534380-chr21:45717133..45718236,3	K562	blood:
22	chr21:45663550..45664645-chr21:45717261..45718177,3	MCF-7	breast:
23	chr1:121484897..121485723-chr21:45720036..45720955,2	Hela-S3	cervix:
24	chr16:20817694..20820008-chr21:45718937..45721716,2	MCF-7	breast:
25	chr21:45699767..45703911-chr21:45704221..45706771,4	MCF-7	breast:
26	chr21:45553772..45556030-chr21:45714036..45716706,2	MCF-7	breast:
27	chr2:95540074..95540574-chr21:45713850..45714470,2	Hela-S3	cervix:
28	chr21:45625185..45629583-chr21:45714810..45717707,4	MCF-7	breast:
29	chr21:45620857..45623394-chr21:45709649..45711804,3	MCF-7	breast:
30	chr21:45707047..45709447-chr21:45711047..45712909,2	MCF-7	breast:
31	chr21:45566744..45567696-chr21:45717266..45718589,8	MCF-7	breast:
32	chr21:45667021..45669149-chr21:45714307..45715879,2	MCF-7	breast:
33	chr21:45644616..45646347-chr21:45720653..45723440,2	MCF-7	breast:
34	chr21:45590104..45592825-chr21:45716681..45719133,2	K562	blood:
35	chr21:45566744..45567741-chr21:45717194..45717765,3	K562	blood:
36	chr21:45658941..45665769-chr21:45718013..45724632,19	MCF-7	breast:
37	chr21:45706192..45708380-chr9:137402919..137404419,2	K562	blood:
38	chr21:45718752..45721154-chr21:46219831..46222611,2	K562	blood:
39	chr21:45644343..45646450-chr21:45701805..45703427,2	MCF-7	breast:
40	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
41	chr21:45719852..45723806-chr21:45756512..45759776,5	MCF-7	breast:
42	chr21:45664753..45666308-chr21:45706084..45707885,2	MCF-7	breast:
43	chr21:45722493..45724362-chr21:45846453..45848482,2	K562	blood:
44	chr21:45705948..45708747-chr21:45714407..45716597,2	MCF-7	breast:
45	chr21:45687866..45689846-chr21:45707604..45709225,2	MCF-7	breast:
46	chr21:45659201..45661814-chr21:45711763..45713332,2	MCF-7	breast:
47	chr21:45720740..45724060-chr21:45730996..45734496,4	MCF-7	breast:
48	chr21:45661660..45663213-chr21:45700955..45703674,2	K562	blood:
49	chr21:45667662..45673123-chr21:45716367..45722484,9	MCF-7	breast:
50	chr21:45566403..45567701-chr21:45716183..45718325,15	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AIRE-2	chr21:45718898-45719293	expReg_chr21_1765_+

No data

Variant related genes	Relation type
PFKL	TF binding region
AIRE	TF binding region
PFKL	CpG island
AIRE	CpG island
ENSG00000160218	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000160224	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000184508	chromatin interactions
ENSG00000225331	chromatin interactions
ENSG00000160233	chromatin interactions
ENSG00000196678	chromatin interactions
ENSG00000232124	chromatin interactions
ENSG00000196700	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000232698	chromatin interactions
ENSG00000229356	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000142182	chromatin interactions
ENSG00000232010	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000005189	chromatin interactions
ENSG00000177697	chromatin interactions
ENSG00000235890	chromatin interactions
ENSG00000176155	chromatin interactions
ENSG00000236519	chromatin interactions

Extended variants
information (count: 1387 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1387 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2850165	chr21:45700641-45700642	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550091320	chr21:45700666-45700667	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567974009	chr21:45700674-45700675	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs111882965	chr21:45700677-45700678	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543005357	chr21:45700701-45700702	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553600433	chr21:45700703-45700704	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559832025	chr21:45700711-45700712	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554701699	chr21:45700716-45700717	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185824518	chr21:45700717-45700718	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530158392	chr21:45700749-45700750	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs574592320	chr21:45700783-45700784	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142176932	chr21:45700791-45700792	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576217876	chr21:45700793-45700794	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs28462057	chr21:45700806-45700807	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs2850166	chr21:45700824-45700825	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562362505	chr21:45700831-45700832	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573974745	chr21:45700833-45700834	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs60503656	chr21:45700843-45700844	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2776376	chr21:45700844-45700845	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113495415	chr21:45700874-45700875	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs118179584	chr21:45700915-45700916	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs57496049	chr21:45700925-45700926	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564315012	chr21:45700958-45700959	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs531494715	chr21:45700983-45700984	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550120016	chr21:45700985-45700986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs2017327	chr21:45701033-45701034	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535369783	chr21:45701041-45701042	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs59705601	chr21:45701046-45701047	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs59189194	chr21:45701052-45701053	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371785888	chr21:45701054-45701055	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539185612	chr21:45701055-45701056	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs557387700	chr21:45701065-45701066	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs576231427	chr21:45701093-45701094	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs372561958	chr21:45701111-45701112	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs375070303	chr21:45701134-45701135	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs555803100	chr21:45701135-45701136	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs574312795	chr21:45701139-45701140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541344152	chr21:45701140-45701141	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553380074	chr21:45701156-45701157	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs58270113	chr21:45701165-45701166	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375522741	chr21:45701179-45701180	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545529602	chr21:45701203-45701204	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs563727393	chr21:45701215-45701216	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs531549509	chr21:45701242-45701243	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs141291376	chr21:45701271-45701272	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs543676170	chr21:45701276-45701277	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs145070872	chr21:45701294-45701295	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529234815	chr21:45701340-45701341	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs77285369	chr21:45701388-45701389	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs565676998	chr21:45701392-45701393	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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 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
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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1249 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45662800-45705600	Weak transcription	Right Atrium	heart
2	chr21:45684000-45702000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:45693000-45701200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:45701200-45703000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:45701400-45702200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:45701400-45702200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:45701400-45702800	Enhancers	GM12878-XiMat	blood
8	chr21:45701600-45701800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr21:45701800-45702000	Enhancers	Right Ventricle	heart
10	chr21:45701800-45703600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr21:45702000-45702200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr21:45702000-45705200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:45702000-45705200	Weak transcription	Right Ventricle	heart
14	chr21:45702200-45702400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:45702200-45702400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:45702200-45702400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr21:45702200-45702400	Bivalent Enhancer	HepG2	liver
18	chr21:45702200-45702800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:45702200-45703000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr21:45702200-45704400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr21:45702200-45705200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:45702400-45702600	Enhancers	Primary hematopoietic stem cells	blood
23	chr21:45702400-45702800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr21:45702400-45703000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:45702400-45703000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr21:45702400-45704200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr21:45702400-45705800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr21:45702600-45703600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr21:45702600-45703800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr21:45702600-45703800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:45702800-45703600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:45702800-45714000	Weak transcription	GM12878-XiMat	blood
33	chr21:45703000-45703400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:45703000-45703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:45703000-45703400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:45703000-45703800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr21:45703000-45704600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr21:45703000-45705000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr21:45703000-45705600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr21:45703400-45704000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:45703400-45704200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr21:45703400-45704200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:45703400-45704600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr21:45703600-45703800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr21:45703600-45703800	Enhancers	Lung	lung
46	chr21:45703600-45704000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr21:45703600-45704000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr21:45703600-45704000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr21:45703600-45704400	Enhancers	Primary B cells from cord blood	blood
50	chr21:45703600-45704800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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