Variant report

Variant	nsv819685
Chromosome Location	chr1:221052623-221053772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:304)
CpG islands
(count:490)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:221053452-221053781	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:221052129-221052743	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr1:221053352-221053403	K562	blood:	n/a	n/a
4	BHLHE40	chr1:221052570-221052770	GM12878	blood:	n/a	n/a
5	BHLHE40	chr1:221053661-221053784	K562	blood:	n/a	n/a
6	CBX3	chr1:221052351-221052762	K562	blood:	n/a	n/a
7	CCNT2	chr1:221052822-221053769	K562	blood:	n/a	n/a
8	CEBPB	chr1:221053440-221053629	Hela-S3	cervix:	n/a	n/a
9	CHD1	chr1:221053120-221053125	GM12878	blood:	n/a	n/a
10	CHD1	chr1:221052680-221053229	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr1:221052385-221052644	K562	blood:	n/a	n/a
12	CHD2	chr1:221053040-221053059	HepG2	liver:	n/a	n/a
13	CHD2	chr1:221052560-221053753	Hela-S3	cervix:	n/a	n/a
14	CREB1	chr1:221052417-221053084	A549	lung:	n/a	n/a
15	CTBP2	chr1:221049806-221056533	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr1:221052520-221052670	HCM	heart:	n/a	n/a
17	CTCF	chr1:221053400-221053550	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr1:221053380-221053530	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr1:221052860-221053010	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr1:221052980-221053130	GM12864	blood:	n/a	n/a
21	CTCF	chr1:221053485-221053509	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr1:221053424-221053579	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr1:221053120-221053270	HFF	foreskin:	n/a	n/a
24	CTCF	chr1:221053440-221053590	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr1:221053460-221053610	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr1:221053440-221053590	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr1:221052982-221053066	GM19239	blood:	n/a	n/a
28	CTCF	chr1:221053395-221053603	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr1:221053440-221053590	AG04450	lung:	n/a	n/a
30	CTCF	chr1:221052480-221052630	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr1:221053440-221053589	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr1:221053080-221053230	SAEC	small airway:	n/a	n/a
33	CTCF	chr1:221052680-221052830	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr1:221053380-221053530	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr1:221053440-221053590	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr1:221053480-221053630	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr1:221053400-221053550	BE2_C	brain:	n/a	n/a
38	CTCF	chr1:221053420-221053614	Gliobla	brain:	n/a	n/a
39	CTCF	chr1:221052920-221053070	AG04449	skin:	n/a	n/a
40	CTCF	chr1:221053400-221053550	HCM	heart:	n/a	n/a
41	CTCF	chr1:221052853-221053069	GM12878	blood:	n/a	n/a
42	CTCF	chr1:221053460-221053525	NHEK	skin:	n/a	n/a
43	CTCF	chr1:221053020-221053170	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr1:221053440-221053590	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr1:221053080-221053230	GM12874	blood:	n/a	n/a
46	CTCF	chr1:221053380-221053530	HCT-116	colon:	n/a	n/a
47	CTCF	chr1:221053353-221053587	K562	blood:	n/a	n/a
48	CTCF	chr1:221053220-221053370	GM12875	blood:	n/a	n/a
49	CTCF	chr1:221053400-221053550	AG10803	skin:	n/a	n/a
50	CTCF	chr1:221052900-221053050	HMEC	breast:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:221052718-221052768	ovcar-3	ovarian:	n/a
2	chr1:221053128-221053178	K562	blood:	n/a
3	chr1:221052718-221052768	ovcar-3	ovarian:	n/a
4	chr1:221053128-221053178	K562	blood:	n/a
5	chr1:221052579-221052629	GM12892	blood:	n/a
6	chr1:221052705-221052755	SAEC	small airway:	n/a
7	chr1:221052886-221052936	SAEC	small airway:	n/a
8	chr1:221053513-221053563	AoSMC	blood vessel:	n/a
9	chr1:221052579-221052629	T-47D	breast:	n/a
10	chr1:221052886-221052936	HL-60	blood:	n/a
11	chr1:221053409-221053459	ProgFib	skin:	n/a
12	chr1:221052886-221052936	CMK	blood:	n/a
13	chr1:221053409-221053459	Hepatocyte	liver:	n/a
14	chr1:221052705-221052755	Hepatocyte	liver:	n/a
15	chr1:221052886-221052936	H1-hESC	embryonic stem cell:	embryo
16	chr1:221052718-221052768	T-47D	breast:	n/a
17	chr1:221053128-221053178	HCM	heart:	n/a
18	chr1:221053409-221053459	BE2_C	brain:	n/a
19	chr1:221053409-221053459	SKMC	muscle:	n/a
20	chr1:221053128-221053178	HepG2	liver:	n/a
21	chr1:221052718-221052768	HEEpiC	esophagus:	n/a
22	chr1:221052718-221052768	NHBE	bronchial:	n/a
23	chr1:221053513-221053563	Jurkat	blood:	n/a
24	chr1:221053128-221053178	MCF-7	breast:	n/a
25	chr1:221053409-221053459	A549	lung:	n/a
26	chr1:221052579-221052629	HEEpiC	esophagus:	n/a
27	chr1:221052705-221052755	HUVEC	blood vessel:	n/a
28	chr1:221052886-221052936	GM12892	blood:	n/a
29	chr1:221053128-221053178	HCPEpiC	choroid plexus:	n/a
30	chr1:221053513-221053563	LNCaP	prostate:	n/a
31	chr1:221052579-221052629	GM06990	blood:	n/a
32	chr1:221053409-221053459	CMK	blood:	n/a
33	chr1:221052718-221052768	HL-60	blood:	n/a
34	chr1:221052729-221052779	Caco-2	colon:	n/a
35	chr1:221052718-221052768	AoSMC	blood vessel:	n/a
36	chr1:221052579-221052629	AG10803	skin:	n/a
37	chr1:221052729-221052779	MCF-7	breast:	n/a
38	chr1:221052705-221052755	IMR90	lung:	fetal
39	chr1:221052705-221052755	HIPEpiC	eye:	n/a
40	chr1:221052729-221052779	HRE	kidney:	n/a
41	chr1:221052718-221052768	HCT-116	colon:	n/a
42	chr1:221052579-221052629	HCT-116	colon:	n/a
43	chr1:221052579-221052629	HL-60	blood:	n/a
44	chr1:221052729-221052779	Hela-S3	cervix:	n/a
45	chr1:221052579-221052629	MCF10A-Er-Src	breast:	n/a
46	chr1:221052705-221052755	AG10803	skin:	n/a
47	chr1:221052579-221052629	NHBE	bronchial:	n/a
48	chr1:221052579-221052629	BJ	skin:	n/a
49	chr1:221053128-221053178	AG04450	lung:	fetal
50	chr1:221052718-221052768	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221052748..221053427-chr3:5024866..5025606,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
HLA-AS1	TF binding region
HLX	TF binding region
HLA-AS1	CpG island
HLX	CpG island

Extended variants
information (count: 62 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533315729	chr1:221052631-221052632	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs2807857	chr1:221052640-221052641	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs563567393	chr1:221052646-221052647	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561534597	chr1:221052650-221052651	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529101333	chr1:221052656-221052657	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs57695351	chr1:221052659-221052660	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370590582	chr1:221052673-221052674	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs111613032	chr1:221052680-221052681	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs534453280	chr1:221052715-221052716	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs575141143	chr1:221052732-221052733	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs570914522	chr1:221052739-221052740	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs2738752	chr1:221052765-221052766	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs12730158	chr1:221052770-221052771	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs148346751	chr1:221052771-221052772	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs199553841	chr1:221052789-221052790	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs556600577	chr1:221052790-221052791	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377063056	chr1:221052793-221052794	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs35462307	chr1:221052794-221052795	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201873114	chr1:221052801-221052802	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs200566716	chr1:221052802-221052803	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs112618703	chr1:221052803-221052804	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs563665490	chr1:221052834-221052835	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs572671638	chr1:221052851-221052852	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs55955117	chr1:221052931-221052932	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2738754	chr1:221052937-221052938	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs578083397	chr1:221052950-221052951	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs143725741	chr1:221053017-221053018	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563513480	chr1:221053057-221053058	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs370813784	chr1:221053094-221053095	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs548998468	chr1:221053130-221053131	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs559170923	chr1:221053138-221053139	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs561016081	chr1:221053154-221053155	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs552261041	chr1:221053174-221053175	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs528225208	chr1:221053194-221053195	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs377648480	chr1:221053219-221053220	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs551071906	chr1:221053275-221053276	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs201129497	chr1:221053344-221053345	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs536726177	chr1:221053380-221053381	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs370630244	chr1:221053439-221053440	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs375393771	chr1:221053486-221053487	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs567140647	chr1:221053490-221053491	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs374220349	chr1:221053491-221053492	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs182881175	chr1:221053499-221053500	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs555735503	chr1:221053503-221053504	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs370298817	chr1:221053542-221053543	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
46	rs12141189	chr1:221053545-221053546	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs200442482	chr1:221053561-221053562	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
48	rs200497987	chr1:221053562-221053563	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
49	rs372827556	chr1:221053567-221053568	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs62621984	chr1:221053574-221053575	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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
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	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	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
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221049000-221053800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:221049600-221052800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:221049600-221052800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:221049600-221055600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:221049800-221055400	Active TSS	Right Atrium	heart
6	chr1:221049800-221055800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:221050000-221055400	Active TSS	Left Ventricle	heart
8	chr1:221050200-221053800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr1:221050400-221053600	Bivalent Enhancer	Fetal Brain Male	brain
10	chr1:221050400-221055200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr1:221051200-221053800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr1:221051200-221054400	Active TSS	Lung	lung
13	chr1:221051200-221055000	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:221051200-221055600	Active TSS	Right Ventricle	heart
15	chr1:221051400-221052800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
16	chr1:221051400-221054000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr1:221051400-221056000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
18	chr1:221051600-221052800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
19	chr1:221051600-221054400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:221051600-221054600	Active TSS	Colon Smooth Muscle	Colon
21	chr1:221051800-221052800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:221051800-221052800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr1:221051800-221052800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr1:221051800-221053200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
25	chr1:221051800-221053400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
26	chr1:221051800-221053600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
27	chr1:221051800-221053800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr1:221051800-221054000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:221051800-221054200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:221051800-221054200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:221051800-221054200	Bivalent/Poised TSS	NHEK	skin
32	chr1:221051800-221055200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:221051800-221055800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:221052000-221052800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
35	chr1:221052000-221053000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr1:221052000-221053800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:221052000-221053800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr1:221052000-221054000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:221052000-221054000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:221052000-221054000	Active TSS	A549	lung
41	chr1:221052000-221054200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr1:221052000-221054800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr1:221052000-221054800	Bivalent/Poised TSS	Thymus	Thymus
44	chr1:221052000-221054800	Active TSS	HSMM	muscle
45	chr1:221052000-221054800	Active TSS	HSMMtube	muscle
46	chr1:221052000-221055000	Bivalent/Poised TSS	Fetal Lung	lung
47	chr1:221052000-221055000	Active TSS	Ovary	ovary
48	chr1:221052000-221055000	Active TSS	NHDF-Ad	bronchial
49	chr1:221052000-221055400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:221052000-221055600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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