Variant report

Variant	nsv998238
Chromosome Location	chr1:242613214-243041351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2063)
CpG islands
(count:1528)
Chromatin interactive
region (count:45)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2063 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:242749196-242749772	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr1:242976778-242977056	GM12878	blood:	n/a	n/a
3	BACH1	chr1:242765415-242765554	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:242918799-242919176	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:242848092-242848258	K562	blood:	n/a	n/a
6	BACH1	chr1:242618940-242618963	K562	blood:	n/a	n/a
7	BACH1	chr1:242802067-242802078	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr1:242907415-242907671	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr1:242686703-242687743	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr1:242996994-242996997	K562	blood:	n/a	n/a
11	BACH1	chr1:242908535-242908689	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL11A	chr1:242749309-242749565	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL11A	chr1:242976721-242977165	GM12878	blood:	n/a	chr1:242976959-242976968
14	BCL11A	chr1:242976760-242977140	GM12878	blood:	n/a	chr1:242976959-242976968
15	BCL3	chr1:242843399-242843681	GM12878	blood:	n/a	n/a
16	BCL3	chr1:242843343-242843676	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:243031757-243031938	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:242976782-242977230	GM12878	blood:	n/a	n/a
19	BRCA1	chr1:242798548-242798608	HepG2	liver:	n/a	n/a
20	BRCA1	chr1:242997383-242997489	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr1:242749358-242749729	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr1:242954012-242954043	Hela-S3	cervix:	n/a	n/a
23	CCNT2	chr1:242687442-242687642	K562	blood:	n/a	n/a
24	CCNT2	chr1:242654129-242654329	K562	blood:	n/a	n/a
25	CEBPB	chr1:242689124-242689425	Hela-S3	cervix:	n/a	chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689264-242689275 chr1:242689264-242689277 chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689265-242689276
26	CEBPB	chr1:242731619-242731959	HepG2	liver:	n/a	chr1:242731782-242731793 chr1:242731622-242731630 chr1:242731783-242731794
27	CEBPB	chr1:242766610-242766982	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr1:242687508-242687635	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr1:242615991-242616182	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr1:242998985-242999533	A549	lung:	n/a	n/a
31	CEBPB	chr1:242861497-242861649	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:242731638-242731932	A549	lung:	n/a	chr1:242731782-242731793 chr1:242731783-242731794
33	CEBPB	chr1:242955789-242955931	A549	lung:	n/a	n/a
34	CEBPB	chr1:242689182-242689351	HepG2	liver:	n/a	chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689264-242689275 chr1:242689264-242689277 chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689265-242689276
35	CEBPB	chr1:242914758-242914854	A549	lung:	n/a	chr1:242914783-242914796
36	CEBPB	chr1:242749263-242749763	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr1:242689090-242689456	IMR90	lung:	n/a	chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689264-242689275 chr1:242689264-242689277 chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689265-242689276
38	CEBPB	chr1:242798128-242798506	HepG2	liver:	n/a	n/a
39	CEBPB	chr1:242688991-242689520	A549	lung:	n/a	chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689264-242689275 chr1:242689264-242689277 chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689265-242689276
40	CEBPB	chr1:242689078-242689439	A549	lung:	n/a	chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689264-242689275 chr1:242689264-242689277 chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689265-242689276
41	CEBPB	chr1:242689138-242689362	MCF-7	breast:	n/a	chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689264-242689275 chr1:242689264-242689277 chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689265-242689276
42	CEBPB	chr1:242815630-242815862	A549	lung:	n/a	n/a
43	CEBPB	chr1:242815292-242815888	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr1:242899978-242900301	A549	lung:	n/a	chr1:242900141-242900152
45	CEBPB	chr1:242766628-242766982	IMR90	lung:	n/a	n/a
46	CEBPB	chr1:242766634-242766975	HepG2	liver:	n/a	n/a
47	CEBPB	chr1:242774611-242774728	A549	lung:	n/a	n/a
48	CEBPB	chr1:242718132-242718180	A549	lung:	n/a	n/a
49	CEBPB	chr1:242689089-242689448	H1-hESC	embryonic stem cell:	n/a	chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689264-242689275 chr1:242689264-242689277 chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689265-242689276
50	CEBPB	chr1:242899993-242900287	HepG2	liver:	n/a	chr1:242900141-242900152

(count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:242683142-242683192	MCF10A-Er-Src	breast:	n/a
2	chr1:242690593-242690643	SKMC	muscle:	n/a
3	chr1:242687412-242687462	SK-N-SH_RA	brain:	n/a
4	chr1:242683142-242683192	MCF10A-Er-Src	breast:	n/a
5	chr1:242690593-242690643	SKMC	muscle:	n/a
6	chr1:242687412-242687462	SK-N-SH_RA	brain:	n/a
7	chr1:242688591-242688641	Jurkat	blood:	n/a
8	chr1:242653362-242653412	SAEC	small airway:	n/a
9	chr1:242937866-242937916	Caco-2	colon:	n/a
10	chr1:242688226-242688276	HAEpiC	amniotic membrane:	n/a
11	chr1:242686709-242686759	HAEpiC	amniotic membrane:	n/a
12	chr1:242688081-242688131	RPTEC	kidney:	n/a
13	chr1:242936925-242936975	HCPEpiC	choroid plexus:	n/a
14	chr1:242653362-242653412	A549	lung:	n/a
15	chr1:242690733-242690783	A549	lung:	n/a
16	chr1:242688081-242688131	IMR90	lung:	fetal
17	chr1:242684042-242684092	GM12892	blood:	n/a
18	chr1:242613245-242613295	H1-hESC	embryonic stem cell:	embryo
19	chr1:242690593-242690643	K562	blood:	n/a
20	chr1:242686709-242686759	U87	brain:	n/a
21	chr1:242687412-242687462	Hela-S3	cervix:	n/a
22	chr1:242613203-242613253	HCPEpiC	choroid plexus:	n/a
23	chr1:242688591-242688641	SK-N-MC	brain:	n/a
24	chr1:242688681-242688731	ECC-1	luminal epithelium:	n/a
25	chr1:242687527-242687577	H1-hESC	embryonic stem cell:	embryo
26	chr1:242687412-242687462	AG10803	skin:	n/a
27	chr1:242687018-242687068	GM19239	blood:	n/a
28	chr1:242684042-242684092	AG04450	lung:	fetal
29	chr1:242687412-242687462	HL-60	blood:	n/a
30	chr1:242688226-242688276	GM12891	blood:	n/a
31	chr1:242688081-242688131	T-47D	breast:	n/a
32	chr1:242653362-242653412	GM19239	blood:	n/a
33	chr1:242767727-242767777	SK-N-SH	brain:	n/a
34	chr1:242687465-242687515	HMEC	breast:	n/a
35	chr1:242687527-242687577	HIPEpiC	eye:	n/a
36	chr1:242690733-242690783	AG09319	gingival:	n/a
37	chr1:242687018-242687068	H1-hESC	embryonic stem cell:	embryo
38	chr1:242690593-242690643	SK-N-SH	brain:	n/a
39	chr1:242937866-242937916	Hela-S3	cervix:	n/a
40	chr1:242688144-242688194	HL-60	blood:	n/a
41	chr1:242688523-242688573	T-47D	breast:	n/a
42	chr1:242688523-242688573	K562	blood:	n/a
43	chr1:242688144-242688194	AG10803	skin:	n/a
44	chr1:242688144-242688194	HEEpiC	esophagus:	n/a
45	chr1:242688523-242688573	MCF10A-Er-Src	breast:	n/a
46	chr1:242767727-242767777	NHDF-neo	bronchial:	n/a
47	chr1:242613203-242613253	HL-60	blood:	n/a
48	chr1:242767727-242767777	ProgFib	skin:	n/a
49	chr1:242613245-242613295	HRCEpiC	kidney:	n/a
50	chr1:242749065-242749115	GM19239	blood:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:242680127..242681627-chr2:114917951..114919998,2	K562	blood:
2	chr1:242626775..242629510-chr1:242632318..242634678,2	K562	blood:
3	chr1:242998388..243001295-chr1:243002456..243004745,2	K562	blood:
4	chr1:242687782..242688282-chr7:140396130..140396992,2	MCF-7	breast:
5	chr1:242182892..242183793-chr1:242638283..242638859,2	MCF-7	breast:
6	chr1:242989477..242991101-chr1:242991941..242994002,2	K562	blood:
7	chr1:242617811..242618559-chr1:242630673..242631426,2	MCF-7	breast:
8	chr1:242938370..242940205-chr1:242949135..242951746,2	K562	blood:
9	chr1:242617851..242618670-chr1:243488347..243489044,3	K562	blood:
10	chr1:242868996..242871474-chr1:242872273..242874608,2	K562	blood:
11	chr1:242991254..242992220-chr1:243099841..243100636,3	MCF-7	breast:
12	chr1:243028922..243031643-chr1:243036505..243039074,2	K562	blood:
13	chr1:242725284..242727359-chr1:242740097..242742633,2	K562	blood:
14	chr1:242868996..242871474-chr1:242872273..242874608,2	K562	blood:
15	chr1:242907367..242907987-chr1:242917774..242918489,2	MCF-7	breast:
16	chr1:242725284..242727359-chr1:242740097..242742633,2	K562	blood:
17	chr1:243028922..243031643-chr1:243036505..243039074,2	K562	blood:
18	chr1:242690016..242691872-chr1:242693633..242696620,2	K562	blood:
19	chr1:242616929..242619643-chr1:242629672..242631653,2	K562	blood:
20	chr1:243003845..243005366-chr1:243007691..243009298,2	K562	blood:
21	chr1:242867321..242869149-chr1:242869227..242872156,2	MCF-7	breast:
22	chr1:242731452..242733233-chr1:242737501..242739906,2	K562	blood:
23	chr1:242617838..242618342-chr1:242955947..242956813,2	MCF-7	breast:
24	chr1:242817323..242819787-chr1:242897350..242900264,2	K562	blood:
25	chr1:242687074..242690257-chr1:242691020..242695095,4	K562	blood:
26	chr1:242692263..242693064-chr17:56708576..56709248,2	MCF-7	breast:
27	chr1:243028092..243030417-chr1:243031884..243034309,2	K562	blood:
28	chr1:242907367..242907987-chr1:242917774..242918489,2	MCF-7	breast:
29	chr1:242616929..242619643-chr1:242629672..242631653,2	K562	blood:
30	chr1:242989477..242991101-chr1:242991941..242994002,2	K562	blood:
31	chr1:242998388..243001295-chr1:243002456..243004745,2	K562	blood:
32	chr1:242938370..242940205-chr1:242949135..242951746,2	K562	blood:
33	chr1:243028092..243030417-chr1:243031884..243034309,2	K562	blood:
34	chr1:242731452..242733233-chr1:242737501..242739906,2	K562	blood:
35	chr1:243003845..243005366-chr1:243007691..243009298,2	K562	blood:
36	chr1:242867321..242869149-chr1:242869227..242872156,2	MCF-7	breast:
37	chr1:242687461..242689938-chr1:242691020..242693615,2	K562	blood:
38	chr1:242617838..242618342-chr1:242955947..242956813,2	MCF-7	breast:
39	chr1:243019974..243021671-chr1:243028235..243030687,2	K562	blood:
40	chr1:242817323..242819787-chr1:242897350..242900264,2	K562	blood:
41	chr1:242690016..242691872-chr1:242693633..242696620,2	K562	blood:
42	chr1:242617811..242618559-chr1:242630673..242631426,2	MCF-7	breast:
43	chr1:242626775..242629510-chr1:242632318..242634678,2	K562	blood:
44	chr1:243019974..243021671-chr1:243028235..243030687,2	K562	blood:
45	chr1:242630619..242631512-chr1:244436093..244436950,3	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP1LC3C-6	chr1:242680432-242680918	expReg_chr1_22659_-
2	lnc-MAP1LC3C-3	chr1:242652877-242653660	NONHSAT010568
3	lnc-PLD5-1	chr1:242693049-242693341	NONHSAT010569
4	lnc-MAP1LC3C-7	chr1:242681118-242681325	expReg_chr1_22661_-
5	lnc-PLD5-1	chr1:242690923-242691021	NONHSAT010569
6	lnc-SDCCAG8-4	chr1:242834442-242834878	NONHSAT010573
7	lnc-PLD5-2	chr1:242717038-242717147	XLOC_001281
8	lnc-PLD5-1	chr1:242692647-242692740	NONHSAT010569
9	lnc-MAP1LC3C-4	chr1:242654836-242655140	expReg_chr1_22645_-
10	lnc-MAP1LC3C-5	chr1:242676012-242676332	expReg_chr1_22653_-
11	lnc-MAP1LC3C-3	chr1:242654490-242654577	NONHSAT010568
12	lnc-PLD5-2	chr1:242717724-242718022	XLOC_001281

No data

Variant related genes	Relation type
ENSG00000270859	TF binding region
PLD5	TF binding region
RSL24D1P4	TF binding region
ENSG00000270859	CpG island
PLD5	CpG island
RSL24D1P4	CpG island
ENSG00000212195	chromatin interactions
ENSG00000240889	chromatin interactions
ENSG00000180287	chromatin interactions
ENSG00000090266	chromatin interactions
DACT1	miRNA target sites
DAB2IP	miRNA target sites

Extended variants
information (count: 13603 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:13603 , 50 per page) page: 1 2 3 4 5 6 7 ... 273

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2654870	chr1:242613284-242613285	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561220999	chr1:242613296-242613297	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs542139834	chr1:242613389-242613390	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561823796	chr1:242613408-242613409	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs35568814	chr1:242613410-242613411	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs573980678	chr1:242613411-242613412	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187236042	chr1:242613412-242613413	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs373065802	chr1:242613414-242613415	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs541388737	chr1:242613443-242613444	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs570271755	chr1:242613477-242613478	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs533266104	chr1:242613496-242613497	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs377056764	chr1:242613502-242613503	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs564240462	chr1:242613509-242613510	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs569742310	chr1:242613527-242613528	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535467101	chr1:242613554-242613555	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs371055308	chr1:242613559-242613560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs192027807	chr1:242613573-242613574	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs182182669	chr1:242613636-242613637	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs77806279	chr1:242613691-242613692	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs368396578	chr1:242613752-242613753	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186920466	chr1:242613759-242613760	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545938111	chr1:242613775-242613776	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556277371	chr1:242613812-242613813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576027131	chr1:242613820-242613821	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541454668	chr1:242613834-242613835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561675423	chr1:242613866-242613867	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374572997	chr1:242613868-242613869	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190205286	chr1:242613869-242613870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs956905	chr1:242613965-242613966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541285362	chr1:242614007-242614008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563961369	chr1:242614008-242614009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182838342	chr1:242614033-242614034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532939028	chr1:242614035-242614036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549898713	chr1:242614039-242614040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569807638	chr1:242614069-242614070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529335874	chr1:242614084-242614085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550942289	chr1:242614101-242614102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117851174	chr1:242614127-242614128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566027525	chr1:242614169-242614170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374081545	chr1:242614171-242614172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34253551	chr1:242614191-242614192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552076772	chr1:242614224-242614225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533215534	chr1:242614240-242614241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571899751	chr1:242614246-242614247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537631090	chr1:242614286-242614287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556338842	chr1:242614336-242614337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576057236	chr1:242614347-242614348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145964996	chr1:242614359-242614360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555084342	chr1:242614373-242614374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114602450	chr1:242614401-242614402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242597800-242619000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:242609800-242613400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr1:242609800-242613600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:242610000-242613400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:242610200-242613400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:242611000-242613600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:242611000-242632200	Weak transcription	HMEC	breast
8	chr1:242611200-242615600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:242611400-242613400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:242611400-242613600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:242612200-242613400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:242612200-242613600	Bivalent Enhancer	Fetal Lung	lung
13	chr1:242612400-242613600	Enhancers	Fetal Stomach	stomach
14	chr1:242612600-242613600	Enhancers	Ovary	ovary
15	chr1:242612600-242613800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:242612600-242616200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:242612800-242613400	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr1:242612800-242613800	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:242613000-242613400	Active TSS	Brain Anterior Caudate	brain
20	chr1:242613000-242613400	Enhancers	Fetal Brain Female	brain
21	chr1:242613000-242618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:242613200-242613400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:242613200-242613400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr1:242613200-242613800	Enhancers	Brain Germinal Matrix	brain
25	chr1:242613200-242614000	Enhancers	Brain Hippocampus Middle	brain
26	chr1:242613200-242616800	Weak transcription	Aorta	Aorta
27	chr1:242613200-242617800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:242613200-242618000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:242613200-242618000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:242613200-242619000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:242613200-242621600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:242613400-242613800	Enhancers	Brain Substantia Nigra	brain
33	chr1:242613400-242616000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:242613400-242616000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:242613400-242618000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:242613400-242618000	Weak transcription	Brain Anterior Caudate	brain
37	chr1:242613400-242640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:242613600-242616400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:242613800-242614000	Enhancers	Fetal Muscle Leg	muscle
40	chr1:242613800-242618000	Weak transcription	Brain Substantia Nigra	brain
41	chr1:242615600-242635400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:242616000-242616400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:242616000-242616600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr1:242616200-242651400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:242616400-242616800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:242616400-242618400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:242616600-242616800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:242616800-242617800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:242617600-242618200	Enhancers	GM12878-XiMat	blood
50	chr1:242617800-242618800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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