Variant report

Variant	esv3366467
Chromosome Location	chr1:214453679-214455877
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	BACH1	chr1:214453892-214454377	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:214454860-214455410	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr1:214454144-214454657	GM12878	blood:	n/a	chr1:214454266-214454275
4	BHLHE40	chr1:214454763-214455198	HepG2	liver:	n/a	chr1:214454799-214454815
5	BHLHE40	chr1:214454776-214455204	HepG2	liver:	n/a	chr1:214454799-214454815
6	BHLHE40	chr1:214453789-214455458	K562	blood:	n/a	chr1:214454799-214454815
7	BHLHE40	chr1:214454948-214455132	A549	lung:	n/a	n/a
8	BHLHE40	chr1:214453921-214455358	GM12878	blood:	n/a	chr1:214454799-214454815
9	BRCA1	chr1:214454963-214455649	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr1:214453494-214454271	K562	blood:	n/a	n/a
11	CBX3	chr1:214454744-214455562	K562	blood:	n/a	n/a
12	CCNT2	chr1:214453779-214455249	K562	blood:	n/a	chr1:214454894-214454903
13	CEBPB	chr1:214455178-214455538	K562	blood:	n/a	chr1:214455423-214455434 chr1:214455422-214455435
14	CEBPB	chr1:214455249-214455606	MCF-7	breast:	n/a	chr1:214455423-214455434 chr1:214455422-214455435
15	CEBPB	chr1:214455244-214455579	HepG2	liver:	n/a	chr1:214455423-214455434 chr1:214455422-214455435
16	CEBPB	chr1:214454904-214455730	Hela-S3	cervix:	n/a	chr1:214455423-214455434 chr1:214455422-214455435
17	CEBPB	chr1:214455287-214455502	K562	blood:	n/a	chr1:214455423-214455434 chr1:214455422-214455435
18	CEBPB	chr1:214455193-214455618	IMR90	lung:	n/a	chr1:214455423-214455434 chr1:214455422-214455435
19	CEBPB	chr1:214455238-214455610	A549	lung:	n/a	chr1:214455423-214455434 chr1:214455422-214455435
20	CEBPB	chr1:214455233-214455689	K562	blood:	n/a	chr1:214455423-214455434 chr1:214455422-214455435
21	CEBPD	chr1:214454097-214455074	HepG2	liver:	n/a	n/a
22	CEBPD	chr1:214454171-214454604	HepG2	liver:	n/a	n/a
23	CHD1	chr1:214453888-214454223	GM12878	blood:	n/a	n/a
24	CHD1	chr1:214454435-214454748	GM12878	blood:	n/a	n/a
25	CHD2	chr1:214454088-214455481	Hela-S3	cervix:	n/a	chr1:214454883-214454893 chr1:214454895-214454905
26	CHD2	chr1:214454507-214455428	K562	blood:	n/a	chr1:214454883-214454893 chr1:214454895-214454905
27	CHD2	chr1:214454558-214455019	H1-hESC	embryonic stem cell:	n/a	chr1:214454883-214454893 chr1:214454895-214454905
28	CHD2	chr1:214453728-214454289	K562	blood:	n/a	n/a
29	CHD2	chr1:214453941-214455195	HepG2	liver:	n/a	chr1:214454883-214454893 chr1:214454895-214454905
30	CHD2	chr1:214453918-214455320	GM12878	blood:	n/a	chr1:214454883-214454893 chr1:214454895-214454905
31	CREB1	chr1:214454060-214455147	K562	blood:	n/a	n/a
32	CREB1	chr1:214454098-214455121	A549	lung:	n/a	n/a
33	CREB1	chr1:214453663-214455546	HepG2	liver:	n/a	n/a
34	CREB1	chr1:214454347-214455140	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTBP2	chr1:214453591-214455261	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr1:214453880-214454030	BJ	skin:	n/a	chr1:214453918-214453926
37	CTCF	chr1:214453980-214454130	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr1:214454000-214454150	HAc	cerebellar:	n/a	n/a
39	CTCF	chr1:214453820-214453970	HCFaa	heart:	n/a	chr1:214453918-214453926
40	CTCF	chr1:214454400-214454550	GM12872	blood:	n/a	n/a
41	CTCF	chr1:214453900-214454050	GM12878	blood:	n/a	chr1:214453918-214453926
42	CTCF	chr1:214453928-214453939	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr1:214453980-214454130	AG10803	skin:	n/a	n/a
44	CTCF	chr1:214454958-214455029	Fibrobl	skin:	n/a	n/a
45	CTCF	chr1:214453760-214453910	AG04449	skin:	n/a	n/a
46	CTCF	chr1:214453682-214454169	K562	blood:	n/a	chr1:214453918-214453926
47	CTCF	chr1:214453860-214454010	GM12873	blood:	n/a	chr1:214453918-214453926
48	CTCF	chr1:214453860-214454010	SAEC	small airway:	n/a	chr1:214453918-214453926
49	CTCF	chr1:214453960-214454110	GM12872	blood:	n/a	n/a
50	CTCF	chr1:214454294-214454297	Pancreas_OC	pancreas:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:214454661-214454711	Hela-S3	cervix:	n/a
2	chr1:214454289-214454339	HEK293	kidney:	embryo
3	chr1:214454661-214454711	HMEC	breast:	n/a
4	chr1:214454282-214454332	Jurkat	blood:	n/a
5	chr1:214454289-214454339	AG09319	gingival:	n/a
6	chr1:214454189-214454239	BJ	skin:	n/a
7	chr1:214454189-214454239	HEK293	kidney:	embryo
8	chr1:214454707-214454757	T-47D	breast:	n/a
9	chr1:214454707-214454757	HNPCEpiC	eye:	n/a
10	chr1:214453845-214453895	AoSMC	blood vessel:	n/a
11	chr1:214455388-214455438	SK-N-MC	brain:	n/a
12	chr1:214454282-214454332	AG04449	skin:	fetal
13	chr1:214453845-214453895	AG09309	skin:	n/a
14	chr1:214454777-214454827	CMK	blood:	n/a
15	chr1:214454189-214454239	HRE	kidney:	n/a
16	chr1:214454661-214454711	NHBE	bronchial:	n/a
17	chr1:214454707-214454757	IMR90	lung:	fetal
18	chr1:214454707-214454757	HEK293	kidney:	embryo
19	chr1:214455388-214455438	LNCaP	prostate:	n/a
20	chr1:214454707-214454757	HL-60	blood:	n/a
21	chr1:214454777-214454827	HRE	kidney:	n/a
22	chr1:214453845-214453895	ProgFib	skin:	n/a
23	chr1:214455388-214455438	HCM	heart:	n/a
24	chr1:214454707-214454757	H1-hESC	embryonic stem cell:	embryo
25	chr1:214454661-214454711	MCF-7	breast:	n/a
26	chr1:214455388-214455438	PFSK-1	brain:	n/a
27	chr1:214455388-214455438	ovcar-3	ovarian:	n/a
28	chr1:214453845-214453895	HNPCEpiC	eye:	n/a
29	chr1:214454707-214454757	HAEpiC	amniotic membrane:	n/a
30	chr1:214454289-214454339	NHBE	bronchial:	n/a
31	chr1:214454777-214454827	GM12891	blood:	n/a
32	chr1:214454189-214454239	IMR90	lung:	fetal
33	chr1:214454661-214454711	HEK293	kidney:	embryo
34	chr1:214454707-214454757	A549	lung:	n/a
35	chr1:214454661-214454711	MCF10A-Er-Src	breast:	n/a
36	chr1:214454289-214454339	HL-60	blood:	n/a
37	chr1:214454707-214454757	SK-N-MC	brain:	n/a
38	chr1:214454777-214454827	MCF10A-Er-Src	breast:	n/a
39	chr1:214454189-214454239	ProgFib	skin:	n/a
40	chr1:214455388-214455438	MCF10A-Er-Src	breast:	n/a
41	chr1:214453845-214453895	Caco-2	colon:	n/a
42	chr1:214455388-214455438	Hela-S3	cervix:	n/a
43	chr1:214454282-214454332	HRCEpiC	kidney:	n/a
44	chr1:214454189-214454239	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:214454707-214454757	HRE	kidney:	n/a
46	chr1:214454282-214454332	K562	blood:	n/a
47	chr1:214454289-214454339	SAEC	small airway:	n/a
48	chr1:214455388-214455438	PANC-1	pancreas:	n/a
49	chr1:214453845-214453895	NHDF-neo	bronchial:	n/a
50	chr1:214454777-214454827	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:214453197..214455713-chr1:214724274..214726472,2	MCF-7	breast:
2	chr1:214454710..214457549-chr7:26301869..26304423,2	MCF-7	breast:
3	chr1:214452237..214456498-chr1:214498464..214506870,12	MCF-7	breast:
4	chr1:214451440..214454352-chr1:214497231..214500800,3	K562	blood:
5	chr1:214454828..214456756-chr1:214488349..214489973,2	MCF-7	breast:
6	chr1:214453905..214454596-chr14:60715764..60716495,2	Hela-S3	cervix:
7	chr1:214454543..214455127-chrX:47093123..47093704,2	HCT-116	colon:
8	chr1:214454372..214455143-chr17:48711946..48712620,2	Hela-S3	cervix:
9	chr1:214453776..214454417-chr16:75657150..75657683,2	NB4	blood:
10	chr1:214450853..214454119-chr1:214469233..214472526,4	K562	blood:
11	chr1:214452363..214455450-chr1:214775239..214777636,3	K562	blood:
12	chr1:214455071..214455827-chr5:68484614..68485240,2	Hela-S3	cervix:
13	chr1:214454464..214455442-chr5:33440977..33441733,2	Hela-S3	cervix:
14	chr1:214452363..214454335-chr1:214775239..214777094,2	K562	blood:

Variant related genes	Relation type
SMYD2	TF binding region
SMYD2	CpG island
ENSG00000113407	chromatin interactions
ENSG00000152104	chromatin interactions
ENSG00000143499	chromatin interactions
ENSG00000117724	chromatin interactions
ENSG00000100614	chromatin interactions
ENSG00000108846	chromatin interactions
ENSG00000065457	chromatin interactions
ENSG00000102226	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143298831	chr1:214453696-214453697	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs558752825	chr1:214453698-214453699	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs562797872	chr1:214453710-214453711	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs185301070	chr1:214453714-214453715	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs548278913	chr1:214453734-214453735	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs558534941	chr1:214453795-214453796	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs572369743	chr1:214453797-214453798	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs535008100	chr1:214453823-214453824	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs566461805	chr1:214453830-214453831	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs73090358	chr1:214453844-214453845	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373591760	chr1:214453875-214453876	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs190011029	chr1:214453893-214453894	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs181886021	chr1:214453908-214453909	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs146983803	chr1:214453962-214453963	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs556226529	chr1:214453973-214453974	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs568058962	chr1:214453999-214454000	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs186529826	chr1:214454027-214454028	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs535468162	chr1:214454064-214454065	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs137968428	chr1:214454078-214454079	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs572044815	chr1:214454079-214454080	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs563626629	chr1:214454124-214454125	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs375055692	chr1:214454169-214454170	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs191688271	chr1:214454186-214454187	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs559255781	chr1:214454187-214454188	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs577518557	chr1:214454206-214454207	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs544478350	chr1:214454232-214454233	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs563036311	chr1:214454256-214454257	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs73090361	chr1:214454274-214454275	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs72649997	chr1:214454283-214454284	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560133805	chr1:214454328-214454329	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs150508321	chr1:214454348-214454349	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs552061816	chr1:214454362-214454363	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs570365528	chr1:214454402-214454403	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs531580628	chr1:214454410-214454411	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs549694480	chr1:214454447-214454448	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs71515198	chr1:214454471-214454472	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs535220774	chr1:214454495-214454496	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs553870594	chr1:214454512-214454513	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs139477112	chr1:214454537-214454538	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs539395206	chr1:214454550-214454551	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs113623786	chr1:214454573-214454574	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs559341288	chr1:214454591-214454592	Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs577605405	chr1:214454635-214454636	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs544827698	chr1:214454664-214454665	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs538238350	chr1:214454708-214454709	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs535083054	chr1:214454711-214454712	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs140536753	chr1:214454713-214454714	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs145628253	chr1:214454726-214454727	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs143365542	chr1:214454729-214454730	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs374401037	chr1:214454738-214454739	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214452200-214453800	Weak transcription	Gastric	stomach
2	chr1:214452400-214453800	Weak transcription	Psoas Muscle	Psoas
3	chr1:214452400-214454000	Weak transcription	Spleen	Spleen
4	chr1:214453000-214453800	Enhancers	Fetal Thymus	thymus
5	chr1:214453200-214453800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:214453200-214453800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:214453200-214453800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:214453200-214453800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:214453200-214453800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:214453200-214453800	Flanking Active TSS	HepG2	liver
11	chr1:214453200-214454200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:214453200-214454200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:214453200-214455000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr1:214453200-214456000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr1:214453400-214453800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:214453400-214453800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr1:214453400-214453800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr1:214453400-214453800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr1:214453400-214453800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr1:214453400-214453800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:214453400-214453800	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr1:214453400-214453800	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr1:214453400-214453800	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr1:214453400-214453800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:214453400-214453800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr1:214453400-214453800	Flanking Active TSS	A549	lung
27	chr1:214453400-214454000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:214453400-214454000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr1:214453400-214454000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr1:214453400-214454000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:214453400-214454000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:214453400-214454000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr1:214453400-214454000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr1:214453400-214454000	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr1:214453400-214454000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr1:214453400-214454000	Flanking Active TSS	Fetal Heart	heart
37	chr1:214453400-214454000	Flanking Active TSS	Fetal Kidney	kidney
38	chr1:214453400-214454000	Flanking Active TSS	Fetal Lung	lung
39	chr1:214453400-214454000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr1:214453400-214454000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:214453400-214454200	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr1:214453400-214454200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr1:214453400-214454200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:214453400-214454200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr1:214453400-214454200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:214453400-214454200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:214453400-214454200	Flanking Active TSS	Fetal Brain Male	brain
48	chr1:214453400-214454200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr1:214453400-214455600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr1:214453400-214455600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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