Variant report

Variant	nsv998583
Chromosome Location	chr1:48232131-48316877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:621)
CpG islands
(count:245)
Chromatin interactive
region (count:46)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:48285126-48285602	HepG2	liver:	n/a	n/a
2	BACH1	chr1:48288963-48288977	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr1:48246443-48246482	K562	blood:	n/a	n/a
4	BHLHE40	chr1:48303552-48304105	HepG2	liver:	n/a	n/a
5	BHLHE40	chr1:48294406-48294569	GM12878	blood:	n/a	chr1:48294490-48294503 chr1:48294492-48294501 chr1:48294493-48294502 chr1:48294492-48294501 chr1:48294486-48294507
6	BHLHE40	chr1:48239057-48239068	K562	blood:	n/a	n/a
7	BHLHE40	chr1:48294437-48294586	K562	blood:	n/a	chr1:48294490-48294503 chr1:48294492-48294501 chr1:48294493-48294502 chr1:48294492-48294501 chr1:48294486-48294507
8	BHLHE40	chr1:48250741-48250889	K562	blood:	n/a	n/a
9	BHLHE40	chr1:48250585-48250963	HepG2	liver:	n/a	n/a
10	BRCA1	chr1:48303535-48303637	HepG2	liver:	n/a	n/a
11	BRCA1	chr1:48311619-48311621	HepG2	liver:	n/a	n/a
12	BRCA1	chr1:48249802-48249863	HepG2	liver:	n/a	n/a
13	CEBPB	chr1:48303572-48303904	HepG2	liver:	n/a	n/a
14	CEBPB	chr1:48306611-48306792	HepG2	liver:	n/a	n/a
15	CEBPB	chr1:48306562-48306870	HepG2	liver:	n/a	n/a
16	CEBPB	chr1:48249654-48249964	HepG2	liver:	n/a	n/a
17	CEBPB	chr1:48291621-48291787	HepG2	liver:	n/a	n/a
18	CEBPB	chr1:48285254-48285603	HepG2	liver:	n/a	n/a
19	CEBPB	chr1:48256277-48256621	A549	lung:	n/a	n/a
20	CEBPB	chr1:48281361-48281561	HepG2	liver:	n/a	n/a
21	CEBPB	chr1:48285185-48285557	HepG2	liver:	n/a	n/a
22	CEBPB	chr1:48256285-48256622	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:48303649-48303825	HepG2	liver:	n/a	n/a
24	CEBPB	chr1:48315587-48315729	HepG2	liver:	n/a	chr1:48315660-48315671 chr1:48315658-48315669
25	CEBPB	chr1:48256372-48256605	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr1:48256307-48256616	K562	blood:	n/a	n/a
27	CEBPB	chr1:48256278-48256622	IMR90	lung:	n/a	n/a
28	CEBPB	chr1:48233747-48233918	K562	blood:	n/a	n/a
29	CEBPB	chr1:48256272-48256631	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr1:48262884-48263152	HepG2	liver:	n/a	chr1:48262971-48262982
31	CEBPB	chr1:48245526-48245825	HepG2	liver:	n/a	chr1:48245694-48245705
32	CEBPB	chr1:48285286-48285515	HepG2	liver:	n/a	n/a
33	CEBPD	chr1:48285157-48285510	HepG2	liver:	n/a	n/a
34	CEBPD	chr1:48303573-48303869	HepG2	liver:	n/a	n/a
35	CHD2	chr1:48251262-48251289	HepG2	liver:	n/a	n/a
36	CHD2	chr1:48237705-48237848	HepG2	liver:	n/a	n/a
37	CHD2	chr1:48283959-48283960	HepG2	liver:	n/a	n/a
38	CHD2	chr1:48279783-48279817	HepG2	liver:	n/a	n/a
39	CTCF	chr1:48251340-48251490	GM12871	blood:	n/a	chr1:48251401-48251419
40	CTCF	chr1:48284320-48284470	HepG2	liver:	n/a	n/a
41	CTCF	chr1:48251317-48251503	K562	blood:	n/a	chr1:48251401-48251419
42	CTCF	chr1:48251276-48251530	NHEK	skin:	n/a	chr1:48251401-48251419
43	CTCF	chr1:48251340-48251490	HMEC	breast:	n/a	chr1:48251401-48251419
44	CTCF	chr1:48246208-48246492	K562	blood:	n/a	n/a
45	CTCF	chr1:48251340-48251490	HPAF	blood vessel:	n/a	chr1:48251401-48251419
46	CTCF	chr1:48247340-48247490	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr1:48251299-48251493	A549	lung:	n/a	chr1:48251401-48251419
48	CTCF	chr1:48269553-48269641	MCF-7	breast:	n/a	chr1:48269580-48269598 chr1:48269575-48269596 chr1:48269582-48269595
49	CTCF	chr1:48251320-48251470	Hela-S3	cervix:	n/a	chr1:48251401-48251419
50	CTCF	chr1:48247300-48247450	RPTEC	kidney:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:48288813-48288863	HUVEC	blood vessel:	n/a
2	chr1:48288813-48288863	HUVEC	blood vessel:	n/a
3	chr1:48288813-48288863	H1-hESC	embryonic stem cell:	embryo
4	chr1:48308390-48308440	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:48296905-48296955	SKMC	muscle:	n/a
6	chr1:48242657-48242707	CMK	blood:	n/a
7	chr1:48288813-48288863	U87	brain:	n/a
8	chr1:48242657-48242707	LNCaP	prostate:	n/a
9	chr1:48242657-48242707	GM06990	blood:	n/a
10	chr1:48296905-48296955	ProgFib	skin:	n/a
11	chr1:48288813-48288863	HCM	heart:	n/a
12	chr1:48296905-48296955	HepG2	liver:	n/a
13	chr1:48296905-48296955	NHBE	bronchial:	n/a
14	chr1:48242657-48242707	HCM	heart:	n/a
15	chr1:48296905-48296955	MCF-7	breast:	n/a
16	chr1:48308390-48308440	AoSMC	blood vessel:	n/a
17	chr1:48308390-48308440	GM12891	blood:	n/a
18	chr1:48296905-48296955	HAEpiC	amniotic membrane:	n/a
19	chr1:48308390-48308440	NHBE	bronchial:	n/a
20	chr1:48296905-48296955	GM19239	blood:	n/a
21	chr1:48296905-48296955	ECC-1	luminal epithelium:	n/a
22	chr1:48308390-48308440	HCM	heart:	n/a
23	chr1:48242657-48242707	Hela-S3	cervix:	n/a
24	chr1:48288813-48288863	AoSMC	blood vessel:	n/a
25	chr1:48296905-48296955	PANC-1	pancreas:	n/a
26	chr1:48242657-48242707	GM12878	blood:	n/a
27	chr1:48308390-48308440	RPTEC	kidney:	n/a
28	chr1:48308390-48308440	H1-hESC	embryonic stem cell:	embryo
29	chr1:48288813-48288863	HNPCEpiC	eye:	n/a
30	chr1:48308390-48308440	AG04449	skin:	fetal
31	chr1:48288813-48288863	GM19239	blood:	n/a
32	chr1:48296905-48296955	BJ	skin:	n/a
33	chr1:48308390-48308440	GM06990	blood:	n/a
34	chr1:48296905-48296955	NH-A	brain:	n/a
35	chr1:48242657-48242707	AG04450	lung:	fetal
36	chr1:48288813-48288863	MCF10A-Er-Src	breast:	n/a
37	chr1:48242657-48242707	NB4	blood:	n/a
38	chr1:48242657-48242707	NH-A	brain:	n/a
39	chr1:48242657-48242707	GM19239	blood:	n/a
40	chr1:48308390-48308440	BE2_C	brain:	n/a
41	chr1:48288813-48288863	BE2_C	brain:	n/a
42	chr1:48242657-48242707	PFSK-1	brain:	n/a
43	chr1:48296905-48296955	HCT-116	colon:	n/a
44	chr1:48242657-48242707	RPTEC	kidney:	n/a
45	chr1:48242657-48242707	U87	brain:	n/a
46	chr1:48288813-48288863	SK-N-SH_RA	brain:	n/a
47	chr1:48242657-48242707	GM12892	blood:	n/a
48	chr1:48308390-48308440	ovcar-3	ovarian:	n/a
49	chr1:48288813-48288863	ECC-1	luminal epithelium:	n/a
50	chr1:48296905-48296955	RPTEC	kidney:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:48239776..48242030-chr1:48246793..48248527,2	K562	blood:
2	chr1:48266522..48269297-chr1:48272130..48273851,2	K562	blood:
3	chr1:48266522..48269297-chr1:48272130..48273851,2	K562	blood:
4	chr1:48237276..48238171-chr1:48247512..48248443,5	MCF-7	breast:
5	chr1:48231743..48234057-chr1:48237163..48240124,3	K562	blood:
6	chr1:48256982..48258855-chr1:48261259..48263862,2	MCF-7	breast:
7	chr1:48263354..48267152-chr1:48275321..48278861,3	MCF-7	breast:
8	chr1:48295165..48297553-chr1:234743608..234745203,2	MCF-7	breast:
9	chr1:48235550..48239695-chr1:48239861..48243786,5	K562	blood:
10	chr1:48235358..48237339-chr1:48250226..48251801,2	K562	blood:
11	chr1:48251124..48251849-chr1:48308614..48309440,2	MCF-7	breast:
12	chr1:48235550..48239801-chr1:48241637..48244127,3	K562	blood:
13	chr1:48237276..48238171-chr1:48247512..48248443,5	MCF-7	breast:
14	chr1:48247578..48248293-chr1:48386446..48387356,3	MCF-7	breast:
15	chr1:48247568..48248160-chr1:48360166..48360953,2	MCF-7	breast:
16	chr1:48232346..48235008-chr1:48237593..48240015,2	K562	blood:
17	chr1:48235550..48239695-chr1:48239861..48243786,5	K562	blood:
18	chr1:48282182..48285021-chr1:48293802..48295656,2	MCF-7	breast:
19	chr1:48274286..48276822-chr1:48280321..48281887,2	K562	blood:
20	chr1:48263354..48267152-chr1:48275321..48278861,3	MCF-7	breast:
21	chr1:48275014..48276656-chr1:48278560..48281272,2	K562	blood:
22	chr1:48251124..48251849-chr1:48308614..48309440,2	MCF-7	breast:
23	chr1:48237276..48238171-chr1:48247624..48248443,3	MCF-7	breast:
24	chr1:48235550..48239801-chr1:48241637..48244127,3	K562	blood:
25	chr1:48249463..48251446-chr1:48339448..48342261,2	K562	blood:
26	chr1:48250334..48251908-chr1:48274668..48276528,2	MCF-7	breast:
27	chr1:48257012..48257532-chr10:88699188..88699791,4	MCF-7	breast:
28	chr1:48237276..48238171-chr1:48247624..48248443,3	MCF-7	breast:
29	chr1:48269647..48270164-chr2:170550570..170551153,2	HCT-116	colon:
30	chr1:48251020..48251879-chr1:48396843..48397793,4	MCF-7	breast:
31	chr1:48275210..48277023-chr1:48369213..48372046,2	MCF-7	breast:
32	chr1:48274286..48276822-chr1:48280321..48281887,2	K562	blood:
33	chr1:48257010..48257532-chr10:88699244..88699788,3	MCF-7	breast:
34	chr1:48290130..48291723-chr1:48298456..48300036,2	MCF-7	breast:
35	chr1:48290130..48291723-chr1:48298456..48300036,2	MCF-7	breast:
36	chr1:48224975..48226775-chr1:48251286..48253296,2	K562	blood:
37	chr1:48250334..48251908-chr1:48274668..48276528,2	MCF-7	breast:
38	chr1:48256982..48258855-chr1:48261259..48263862,2	MCF-7	breast:
39	chr1:48245304..48248276-chr1:48385762..48388349,2	MCF-7	breast:
40	chr1:48247568..48248494-chr1:48386485..48387363,3	MCF-7	breast:
41	chr1:48232346..48235008-chr1:48237593..48240015,2	K562	blood:
42	chr1:48231743..48234057-chr1:48237163..48240124,3	K562	blood:
43	chr1:48235358..48237339-chr1:48250226..48251801,2	K562	blood:
44	chr1:48239776..48242030-chr1:48246793..48248527,2	K562	blood:
45	chr1:48251322..48251847-chr1:48396812..48397718,3	MCF-7	breast:
46	chr1:48275014..48276656-chr1:48278560..48281272,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXD2-8	chr1:48293329-48293455	NONHSAT003104
2	lnc-FOXD2-8	chr1:48294909-48295035	NONHSAT003104
3	lnc-FOXD2-8	chr1:48293329-48293455	NONHSAT003105
4	lnc-FOXD2-8	chr1:48292468-48292525	NONHSAT003105
5	lnc-FOXD2-8	chr1:48291804-48292006	NONHSAT003104
6	lnc-FOXD2-8	chr1:48304857-48305460	NONHSAT003105
7	lnc-FOXD2-8	chr1:48292470-48292525	NONHSAT003104

No data

Variant related genes	Relation type
ENSG00000225028	TF binding region
ENSG00000273395	TF binding region
ENSG00000223814	TF binding region
ENSG00000225028	CpG island
ENSG00000273395	CpG island
ENSG00000223814	CpG island
ENSG00000213160	chromatin interactions
ENSG00000154479	chromatin interactions
ENSG00000144362	chromatin interactions
ENSG00000168264	chromatin interactions
ENSG00000225028	chromatin interactions

Extended variants
information (count: 3094 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:3094 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3850879	chr1:48232131-48232132	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
2	rs574475490	chr1:48232145-48232146	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs576086980	chr1:48232164-48232165	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs4927044	chr1:48232179-48232180	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552897228	chr1:48232189-48232190	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs554358325	chr1:48232215-48232216	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs116192185	chr1:48232216-48232217	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs546118889	chr1:48232217-48232218	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs564815773	chr1:48232218-48232219	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs564126978	chr1:48232242-48232243	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs115241290	chr1:48232268-48232269	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs532120749	chr1:48232287-48232288	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs543507859	chr1:48232318-48232319	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs4927045	chr1:48232382-48232383	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372260465	chr1:48232393-48232394	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529399079	chr1:48232400-48232401	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs548051148	chr1:48232477-48232478	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs3844086	chr1:48232503-48232504	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs527567283	chr1:48232506-48232507	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs552544942	chr1:48232543-48232544	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs570456647	chr1:48232574-48232575	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535986256	chr1:48232612-48232613	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537791303	chr1:48232651-48232652	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs117940223	chr1:48232658-48232659	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs568027173	chr1:48232661-48232662	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs36098733	chr1:48232666-48232667	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554052393	chr1:48232718-48232719	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs572341543	chr1:48232733-48232734	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs183281824	chr1:48232762-48232763	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs115425660	chr1:48232790-48232791	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs576333106	chr1:48232795-48232796	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs569522858	chr1:48232819-48232820	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs533461381	chr1:48232831-48232832	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs543413061	chr1:48232834-48232835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs6687375	chr1:48232888-48232889	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4083959	chr1:48232962-48232963	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149595869	chr1:48232963-48232964	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs146508074	chr1:48232982-48232983	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs368422020	chr1:48233004-48233005	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs186608080	chr1:48233018-48233019	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs552401137	chr1:48233026-48233027	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs139256056	chr1:48233099-48233100	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs35834606	chr1:48233105-48233106	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12045022	chr1:48233113-48233114	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568078065	chr1:48233114-48233115	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs191973909	chr1:48233128-48233129	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs553876205	chr1:48233144-48233145	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs565934303	chr1:48233147-48233148	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs539597793	chr1:48233219-48233220	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs369653603	chr1:48233259-48233260	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1055 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:48215400-48236200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:48218600-48239800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:48225400-48234000	Enhancers	Right Atrium	heart
4	chr1:48225600-48237000	Weak transcription	Fetal Intestine Large	intestine
5	chr1:48227000-48233600	Weak transcription	Hela-S3	cervix
6	chr1:48228000-48238800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:48228200-48238000	Weak transcription	Spleen	Spleen
8	chr1:48230000-48232200	Weak transcription	Liver	Liver
9	chr1:48230000-48233000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr1:48230400-48240000	Weak transcription	Aorta	Aorta
11	chr1:48230400-48246600	Weak transcription	Esophagus	oesophagus
12	chr1:48231200-48232600	Weak transcription	Fetal Lung	lung
13	chr1:48231200-48232800	Weak transcription	Placenta	Placenta
14	chr1:48231200-48237400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:48231200-48247000	Weak transcription	Gastric	stomach
16	chr1:48231400-48232600	Enhancers	HepG2	liver
17	chr1:48231400-48235200	Enhancers	Left Ventricle	heart
18	chr1:48231400-48236200	Enhancers	Fetal Heart	heart
19	chr1:48231600-48232200	Enhancers	Brain Germinal Matrix	brain
20	chr1:48231600-48232600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:48231600-48237000	Weak transcription	Fetal Intestine Small	intestine
22	chr1:48231800-48232600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:48231800-48234000	Enhancers	Pancreas	Pancrea
24	chr1:48232000-48235400	Enhancers	Right Ventricle	heart
25	chr1:48232000-48238600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:48232200-48232600	Weak transcription	Brain Germinal Matrix	brain
27	chr1:48232200-48234000	Enhancers	Liver	Liver
28	chr1:48232200-48237400	Enhancers	Fetal Muscle Leg	muscle
29	chr1:48232400-48233200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:48232600-48232800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:48232600-48232800	Enhancers	Brain Germinal Matrix	brain
32	chr1:48232600-48232800	Enhancers	Fetal Lung	lung
33	chr1:48232600-48233200	Flanking Active TSS	HepG2	liver
34	chr1:48232600-48234600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:48232800-48233200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:48232800-48233200	Weak transcription	Fetal Lung	lung
37	chr1:48232800-48233600	Enhancers	Placenta	Placenta
38	chr1:48232800-48234600	Weak transcription	Brain Germinal Matrix	brain
39	chr1:48233000-48234000	Enhancers	Fetal Muscle Trunk	muscle
40	chr1:48233200-48233400	Enhancers	Fetal Lung	lung
41	chr1:48233200-48233600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:48233200-48233600	Enhancers	HepG2	liver
43	chr1:48233400-48233800	Bivalent Enhancer	Fetal Stomach	stomach
44	chr1:48233400-48234400	Weak transcription	Fetal Lung	lung
45	chr1:48233600-48234600	Weak transcription	Placenta	Placenta
46	chr1:48233600-48235200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:48234000-48235200	Weak transcription	Right Atrium	heart
48	chr1:48234000-48236400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr1:48234000-48237000	Weak transcription	Pancreas	Pancrea
50	chr1:48234000-48240400	Weak transcription	Liver	Liver

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