Variant report

Variant	nsv945414
Chromosome Location	chr1:242610697-242858815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	BACH1	chr1:242765415-242765554	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:242686703-242687743	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:242618940-242618963	K562	blood:	n/a	n/a
5	BACH1	chr1:242848092-242848258	K562	blood:	n/a	n/a
6	BACH1	chr1:242802067-242802078	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL11A	chr1:242749309-242749565	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr1:242843343-242843676	GM12878	blood:	n/a	n/a
9	BCL3	chr1:242843399-242843681	GM12878	blood:	n/a	n/a
10	BRCA1	chr1:242798548-242798608	HepG2	liver:	n/a	n/a
11	BRCA1	chr1:242749358-242749729	H1-hESC	embryonic stem cell:	n/a	n/a
12	CCNT2	chr1:242687442-242687642	K562	blood:	n/a	n/a
13	CCNT2	chr1:242654129-242654329	K562	blood:	n/a	n/a
14	CEBPB	chr1:242742398-242742616	HepG2	liver:	n/a	chr1:242742505-242742516
15	CEBPB	chr1:242774529-242774815	HepG2	liver:	n/a	n/a
16	CEBPB	chr1:242731749-242731841	K562	blood:	n/a	chr1:242731782-242731793 chr1:242731783-242731794
17	CEBPB	chr1:242815630-242815862	A549	lung:	n/a	n/a
18	CEBPB	chr1:242731714-242731926	IMR90	lung:	n/a	chr1:242731782-242731793 chr1:242731783-242731794
19	CEBPB	chr1:242687508-242687635	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr1:242791286-242791544	HepG2	liver:	n/a	chr1:242791427-242791436 chr1:242791479-242791490 chr1:242791479-242791492 chr1:242791425-242791436 chr1:242791480-242791491 chr1:242791479-242791492 chr1:242791479-242791490
21	CEBPB	chr1:242615991-242616182	H1-hESC	embryonic stem cell:	n/a	n/a
22	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
23	CEBPB	chr1:242766628-242766982	IMR90	lung:	n/a	n/a
24	CEBPB	chr1:242638583-242638823	H1-hESC	embryonic stem cell:	n/a	n/a
25	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
26	CEBPB	chr1:242689119-242689436	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
27	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
28	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
29	CEBPB	chr1:242766610-242766982	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr1:242731619-242731959	HepG2	liver:	n/a	chr1:242731782-242731793 chr1:242731622-242731630 chr1:242731783-242731794
31	CEBPB	chr1:242695775-242696035	HepG2	liver:	n/a	chr1:242695864-242695873 chr1:242695862-242695873 chr1:242695863-242695874
32	CEBPB	chr1:242815292-242815888	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr1:242731638-242731932	A549	lung:	n/a	chr1:242731782-242731793 chr1:242731783-242731794
34	CEBPB	chr1:242774541-242774804	Hela-S3	cervix:	n/a	n/a
35	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
36	CEBPB	chr1:242774611-242774728	A549	lung:	n/a	n/a
37	CEBPB	chr1:242766651-242766980	A549	lung:	n/a	n/a
38	CEBPB	chr1:242798128-242798506	HepG2	liver:	n/a	n/a
39	CEBPB	chr1:242689089-242689463	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
40	CEBPB	chr1:242718132-242718180	A549	lung:	n/a	n/a
41	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
42	CEBPB	chr1:242689091-242689451	K562	blood:	n/a	chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689264-242689275 chr1:242689264-242689277 chr1:242689266-242689275 chr1:242689266-242689275 chr1:242689265-242689276
43	CEBPB	chr1:242766634-242766975	HepG2	liver:	n/a	n/a
44	CEBPB	chr1:242749263-242749763	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr1:242721635-242721826	HepG2	liver:	n/a	chr1:242721724-242721735
46	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
47	CHD1	chr1:242748570-242748576	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr1:242688352-242688527	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr1:242687408-242687754	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr1:242666426-242666626	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:242688523-242688573	GM12891	blood:	n/a
2	chr1:242688226-242688276	HL-60	blood:	n/a
3	chr1:242687527-242687577	HepG2	liver:	n/a
4	chr1:242686709-242686759	ovcar-3	ovarian:	n/a
5	chr1:242688523-242688573	GM12891	blood:	n/a
6	chr1:242688226-242688276	HL-60	blood:	n/a
7	chr1:242687527-242687577	HepG2	liver:	n/a
8	chr1:242686709-242686759	ovcar-3	ovarian:	n/a
9	chr1:242613245-242613295	AG09319	gingival:	n/a
10	chr1:242612849-242612899	NB4	blood:	n/a
11	chr1:242613245-242613295	HCPEpiC	choroid plexus:	n/a
12	chr1:242613203-242613253	AG10803	skin:	n/a
13	chr1:242749065-242749115	T-47D	breast:	n/a
14	chr1:242688320-242688370	AG04450	lung:	fetal
15	chr1:242749065-242749115	SKMC	muscle:	n/a
16	chr1:242684042-242684092	HRE	kidney:	n/a
17	chr1:242688081-242688131	IMR90	lung:	fetal
18	chr1:242686709-242686759	AG04450	lung:	fetal
19	chr1:242611826-242611876	SK-N-MC	brain:	n/a
20	chr1:242688144-242688194	T-47D	breast:	n/a
21	chr1:242613245-242613295	NT2-D1	testis:	n/a
22	chr1:242686709-242686759	MCF-7	breast:	n/a
23	chr1:242688226-242688276	PrEC	prostate:	n/a
24	chr1:242612787-242612837	A549	lung:	n/a
25	chr1:242688226-242688276	SKMC	muscle:	n/a
26	chr1:242683142-242683192	U87	brain:	n/a
27	chr1:242687527-242687577	HRE	kidney:	n/a
28	chr1:242767727-242767777	MCF10A-Er-Src	breast:	n/a
29	chr1:242690733-242690783	GM19239	blood:	n/a
30	chr1:242612787-242612837	PFSK-1	brain:	n/a
31	chr1:242688591-242688641	GM12878	blood:	n/a
32	chr1:242688320-242688370	HRPEpiC	eye:	n/a
33	chr1:242612849-242612899	PrEC	prostate:	n/a
34	chr1:242767942-242767992	GM12892	blood:	n/a
35	chr1:242653362-242653412	NH-A	brain:	n/a
36	chr1:242613245-242613295	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:242767942-242767992	SK-N-SH	brain:	n/a
38	chr1:242688523-242688573	HMEC	breast:	n/a
39	chr1:242687412-242687462	U87	brain:	n/a
40	chr1:242653362-242653412	NB4	blood:	n/a
41	chr1:242612787-242612837	HNPCEpiC	eye:	n/a
42	chr1:242687527-242687577	NB4	blood:	n/a
43	chr1:242749065-242749115	ovcar-3	ovarian:	n/a
44	chr1:242687465-242687515	SKMC	muscle:	n/a
45	chr1:242653362-242653412	PFSK-1	brain:	n/a
46	chr1:242688523-242688573	CMK	blood:	n/a
47	chr1:242686709-242686759	U87	brain:	n/a
48	chr1:242687018-242687068	ECC-1	luminal epithelium:	n/a
49	chr1:242767942-242767992	HCPEpiC	choroid plexus:	n/a
50	chr1:242687527-242687577	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:242731452..242733233-chr1:242737501..242739906,2	K562	blood:
2	chr1:242616929..242619643-chr1:242629672..242631653,2	K562	blood:
3	chr1:242692263..242693064-chr17:56708576..56709248,2	MCF-7	breast:
4	chr1:242690016..242691872-chr1:242693633..242696620,2	K562	blood:
5	chr1:242617838..242618342-chr1:242955947..242956813,2	MCF-7	breast:
6	chr1:242616929..242619643-chr1:242629672..242631653,2	K562	blood:
7	chr1:242725284..242727359-chr1:242740097..242742633,2	K562	blood:
8	chr1:242687461..242689938-chr1:242691020..242693615,2	K562	blood:
9	chr1:242626775..242629510-chr1:242632318..242634678,2	K562	blood:
10	chr1:242617851..242618670-chr1:243488347..243489044,3	K562	blood:
11	chr1:242630619..242631512-chr1:244436093..244436950,3	MCF-7	breast:
12	chr1:242817323..242819787-chr1:242897350..242900264,2	K562	blood:
13	chr1:242626775..242629510-chr1:242632318..242634678,2	K562	blood:
14	chr1:242680127..242681627-chr2:114917951..114919998,2	K562	blood:
15	chr1:242690016..242691872-chr1:242693633..242696620,2	K562	blood:
16	chr1:242731452..242733233-chr1:242737501..242739906,2	K562	blood:
17	chr1:242182892..242183793-chr1:242638283..242638859,2	MCF-7	breast:
18	chr1:242725284..242727359-chr1:242740097..242742633,2	K562	blood:
19	chr1:242687074..242690257-chr1:242691020..242695095,4	K562	blood:
20	chr1:242687782..242688282-chr7:140396130..140396992,2	MCF-7	breast:
21	chr1:242617811..242618559-chr1:242630673..242631426,2	MCF-7	breast:
22	chr1:242617811..242618559-chr1:242630673..242631426,2	MCF-7	breast:

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

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

Extended variants
information (count: 9316 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:9316 , 50 per page) page: 1 2 3 4 5 6 7 ... 187

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570822885	chr1:242610758-242610759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182341650	chr1:242610760-242610761	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187058123	chr1:242610768-242610769	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs550231651	chr1:242610831-242610832	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374263861	chr1:242610846-242610847	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs563595819	chr1:242610943-242610944	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191866430	chr1:242611003-242611004	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558261705	chr1:242611037-242611038	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs527908939	chr1:242611042-242611043	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12756318	chr1:242611066-242611067	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs368216721	chr1:242611094-242611095	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538507792	chr1:242611112-242611113	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs188819033	chr1:242611147-242611148	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs114195621	chr1:242611151-242611152	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544742636	chr1:242611174-242611175	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs12736654	chr1:242611199-242611200	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555081352	chr1:242611200-242611201	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574777344	chr1:242611288-242611289	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540613177	chr1:242611319-242611320	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs538224233	chr1:242611332-242611333	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376028677	chr1:242611368-242611369	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs578159370	chr1:242611441-242611442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs560668818	chr1:242611513-242611514	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561886296	chr1:242611514-242611515	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532845050	chr1:242611519-242611520	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs114737043	chr1:242611558-242611559	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs562762465	chr1:242611596-242611597	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs2810038	chr1:242611606-242611607	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs116246343	chr1:242611621-242611622	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs567346138	chr1:242611626-242611627	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs529699627	chr1:242611696-242611697	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs546575900	chr1:242611711-242611712	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs185527352	chr1:242611713-242611714	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs149754817	chr1:242611756-242611757	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs190451958	chr1:242611760-242611761	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569102785	chr1:242611782-242611783	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145606553	chr1:242611811-242611812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554806347	chr1:242611816-242611817	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs148895746	chr1:242611817-242611818	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs371744212	chr1:242611849-242611850	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs143246944	chr1:242611858-242611859	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs375929737	chr1:242611873-242611874	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554147732	chr1:242611881-242611882	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs180743892	chr1:242611893-242611894	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs559777233	chr1:242611895-242611896	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370983980	chr1:242611968-242611969	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147866737	chr1:242612010-242612011	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs79824119	chr1:242612011-242612012	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs141652180	chr1:242612034-242612035	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs562091829	chr1:242612064-242612065	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:997 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242597600-242612400	Weak transcription	Aorta	Aorta
2	chr1:242597800-242619000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:242599600-242612600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:242604000-242611000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:242606400-242610800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:242609800-242610800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:242609800-242613200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:242609800-242613200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:242609800-242613400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:242609800-242613600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:242610000-242610800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:242610000-242611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:242610000-242611400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:242610000-242613400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:242610200-242611000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:242610200-242611000	Enhancers	HMEC	breast
17	chr1:242610200-242613400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:242610400-242610800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:242610400-242611400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:242610600-242610800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:242610600-242611200	Enhancers	NHEK	skin
22	chr1:242610600-242611400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:242610600-242612000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr1:242610600-242612200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:242610800-242611000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:242610800-242611200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:242610800-242611400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:242610800-242611800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:242610800-242612200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:242610800-242613000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:242611000-242611200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:242611000-242611400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:242611000-242611600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:242611000-242612000	Active TSS	Brain Germinal Matrix	brain
35	chr1:242611000-242613000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr1:242611000-242613600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr1:242611000-242632200	Weak transcription	HMEC	breast
38	chr1:242611200-242613200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:242611200-242615600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:242611400-242612200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:242611400-242613200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:242611400-242613400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:242611400-242613600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:242611600-242612400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:242611600-242612400	Enhancers	Brain Anterior Caudate	brain
46	chr1:242611600-242612600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:242611800-242612000	Enhancers	Brain Cingulate Gyrus	brain
48	chr1:242611800-242612000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr1:242611800-242612200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:242611800-242612800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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