Variant report

Variant	esv3412152
Chromosome Location	chr1:223536929-223539252
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	ATF1	chr1:223538550-223538750	K562	blood:	n/a	n/a
2	BACH1	chr1:223537063-223537589	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:223537905-223538237	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:223538485-223538731	K562	blood:	n/a	n/a
5	CBX3	chr1:223537298-223537571	K562	blood:	n/a	n/a
6	CCNT2	chr1:223537418-223538160	K562	blood:	n/a	n/a
7	CEBPB	chr1:223538560-223538655	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr1:223537326-223537511	GM12878	blood:	n/a	n/a
9	CHD2	chr1:223537333-223537528	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr1:223538089-223538289	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr1:223537176-223537594	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr1:223537234-223537736	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTBP2	chr1:223537772-223538667	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr1:223536947-223537533	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr1:223537465-223537515	Pancreas_OC	pancreas:	n/a	n/a
16	CTCF	chr1:223537457-223537496	NHEK	skin:	n/a	n/a
17	CTCF	chr1:223537360-223537510	AG09319	gingival:	n/a	n/a
18	CTCF	chr1:223537440-223537590	GM12871	blood:	n/a	n/a
19	CTCF	chr1:223537369-223537538	K562	blood:	n/a	n/a
20	CTCF	chr1:223537416-223537603	K562	blood:	n/a	n/a
21	CTCF	chr1:223537449-223537535	MCF-7	breast:	n/a	n/a
22	CTCF	chr1:223537408-223537607	GM12878	blood:	n/a	n/a
23	CTCF	chr1:223537432-223537560	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:223537405-223537613	K562	blood:	n/a	n/a
25	CTCF	chr1:223537380-223537530	Caco-2	colon:	n/a	n/a
26	CTCF	chr1:223537380-223537530	GM12873	blood:	n/a	n/a
27	CTCF	chr1:223537262-223537638	K562	blood:	n/a	n/a
28	CTCF	chr1:223537426-223537531	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr1:223537438-223537584	LNCaP	prostate:	n/a	n/a
30	CTCF	chr1:223537463-223537578	LNCaP	prostate:	n/a	n/a
31	CTCF	chr1:223537436-223537506	Gliobla	brain:	n/a	n/a
32	CTCF	chr1:223537437-223537516	Fibrobl	skin:	n/a	n/a
33	CTCF	chr1:223537416-223537562	MCF-7	breast:	n/a	n/a
34	CTCF	chr1:223537300-223537450	HRE	kidney:	n/a	n/a
35	E2F6	chr1:223537371-223537640	K562	blood:	n/a	chr1:223537564-223537574 chr1:223537543-223537552
36	E2F6	chr1:223537688-223537961	K562	blood:	n/a	n/a
37	E2F6	chr1:223537730-223538027	A549	lung:	n/a	n/a
38	E2F6	chr1:223537700-223538243	K562	blood:	n/a	chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538169-223538176
39	E2F6	chr1:223537658-223538020	A549	lung:	n/a	n/a
40	E2F6	chr1:223537699-223538417	H1-hESC	embryonic stem cell:	n/a	chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538386-223538395 chr1:223538386-223538398 chr1:223538394-223538403
41	E2F6	chr1:223537703-223538550	H1-hESC	embryonic stem cell:	n/a	chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538386-223538395 chr1:223538386-223538398 chr1:223538394-223538403
42	EBF1	chr1:223538089-223538391	GM12878	blood:	n/a	chr1:223538218-223538228 chr1:223538217-223538230 chr1:223538217-223538228 chr1:223538219-223538228 chr1:223538219-223538228
43	EGR1	chr1:223537361-223537691	K562	blood:	n/a	chr1:223537544-223537557
44	EGR1	chr1:223537372-223537773	K562	blood:	n/a	chr1:223537544-223537557
45	ELF1	chr1:223537333-223537593	K562	blood:	n/a	chr1:223537341-223537353
46	ELF1	chr1:223538177-223538423	K562	blood:	n/a	n/a
47	ELF1	chr1:223537307-223537598	K562	blood:	n/a	chr1:223537341-223537353
48	HA-E2F1	chr1:223537180-223538300	MCF-7	breast:	n/a	chr1:223538169-223538176 chr1:223537564-223537574 chr1:223538169-223538176 chr1:223537543-223537552 chr1:223538169-223538176
49	HCFC1	chr1:223537580-223537599	K562	blood:	n/a	n/a
50	HDAC2	chr1:223538480-223538794	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:223538601-223538651	HUVEC	blood vessel:	n/a
2	chr1:223538379-223538429	ProgFib	skin:	n/a
3	chr1:223537363-223537413	T-47D	breast:	n/a
4	chr1:223538957-223539007	HNPCEpiC	eye:	n/a
5	chr1:223538379-223538429	CMK	blood:	n/a
6	chr1:223538957-223539007	Jurkat	blood:	n/a
7	chr1:223537363-223537413	AG09319	gingival:	n/a
8	chr1:223537435-223537485	NT2-D1	testis:	n/a
9	chr1:223537435-223537485	HCM	heart:	n/a
10	chr1:223538957-223539007	GM12892	blood:	n/a
11	chr1:223538174-223538224	BJ	skin:	n/a
12	chr1:223538359-223538409	IMR90	lung:	fetal
13	chr1:223538334-223538384	IMR90	lung:	fetal
14	chr1:223538957-223539007	BJ	skin:	n/a
15	chr1:223538601-223538651	GM12892	blood:	n/a
16	chr1:223538623-223538673	HepG2	liver:	n/a
17	chr1:223538623-223538673	BE2_C	brain:	n/a
18	chr1:223537435-223537485	HAEpiC	amniotic membrane:	n/a
19	chr1:223537199-223537249	Hela-S3	cervix:	n/a
20	chr1:223537435-223537485	Hela-S3	cervix:	n/a
21	chr1:223538601-223538651	SKMC	muscle:	n/a
22	chr1:223538601-223538651	HCM	heart:	n/a
23	chr1:223538334-223538384	HEK293	kidney:	embryo
24	chr1:223538334-223538384	A549	lung:	n/a
25	chr1:223538627-223538677	AG10803	skin:	n/a
26	chr1:223538957-223539007	AG04450	lung:	fetal
27	chr1:223537435-223537485	AG04450	lung:	fetal
28	chr1:223538601-223538651	NHDF-neo	bronchial:	n/a
29	chr1:223538627-223538677	SK-N-MC	brain:	n/a
30	chr1:223538957-223539007	HCF	heart:	n/a
31	chr1:223538957-223539007	K562	blood:	n/a
32	chr1:223538359-223538409	Hela-S3	cervix:	n/a
33	chr1:223538957-223539007	GM12891	blood:	n/a
34	chr1:223538623-223538673	GM19239	blood:	n/a
35	chr1:223538379-223538429	K562	blood:	n/a
36	chr1:223538174-223538224	NB4	blood:	n/a
37	chr1:223538627-223538677	HEEpiC	esophagus:	n/a
38	chr1:223538359-223538409	HNPCEpiC	eye:	n/a
39	chr1:223538379-223538429	A549	lung:	n/a
40	chr1:223537363-223537413	BJ	skin:	n/a
41	chr1:223538359-223538409	PANC-1	pancreas:	n/a
42	chr1:223538379-223538429	AG04449	skin:	fetal
43	chr1:223538957-223539007	AoSMC	blood vessel:	n/a
44	chr1:223537199-223537249	LNCaP	prostate:	n/a
45	chr1:223538174-223538224	HRPEpiC	eye:	n/a
46	chr1:223538174-223538224	AG04449	skin:	fetal
47	chr1:223538379-223538429	NB4	blood:	n/a
48	chr1:223538379-223538429	MCF10A-Er-Src	breast:	n/a
49	chr1:223538334-223538384	Jurkat	blood:	n/a
50	chr1:223538601-223538651	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:223536038..223539069-chr1:223546089..223550790,4	MCF-7	breast:
2	chr1:223305860..223308306-chr1:223535536..223539484,5	MCF-7	breast:
3	chr1:223534957..223537393-chr1:223566287..223567830,2	MCF-7	breast:

Variant related genes	Relation type
SUSD4	TF binding region
SUSD4	CpG island
ENSG00000251789	chromatin interactions
ENSG00000178395	chromatin interactions
ENSG00000187554	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553924270	chr1:223536959-223536960	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs572437182	chr1:223536978-223536979	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs533594120	chr1:223537074-223537075	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs542876489	chr1:223537082-223537083	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs373844571	chr1:223537095-223537096	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs576314026	chr1:223537106-223537107	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs189901488	chr1:223537147-223537148	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs565278063	chr1:223537239-223537240	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs577415171	chr1:223537256-223537257	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs545253227	chr1:223537260-223537261	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs374448635	chr1:223537286-223537287	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs555047214	chr1:223537337-223537338	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs368087997	chr1:223537362-223537363	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs527599910	chr1:223537379-223537380	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs1618537	chr1:223537385-223537386	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs560947393	chr1:223537435-223537436	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs373961200	chr1:223537442-223537443	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs531246907	chr1:223537447-223537448	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs549746416	chr1:223537482-223537483	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs571279759	chr1:223537483-223537484	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs538328862	chr1:223537568-223537569	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs367759422	chr1:223537569-223537570	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs547598164	chr1:223537580-223537581	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs565905123	chr1:223537712-223537713	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs536554433	chr1:223537848-223537849	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs554927039	chr1:223537872-223537873	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs576666543	chr1:223537901-223537902	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs367804976	chr1:223537914-223537915	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs537099272	chr1:223537927-223537928	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs61838252	chr1:223537933-223537934	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs577450299	chr1:223537954-223537955	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs541503964	chr1:223538000-223538001	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs560411225	chr1:223538066-223538067	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs572230806	chr1:223538095-223538096	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs377753813	chr1:223538113-223538114	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs561074918	chr1:223538117-223538118	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs147226752	chr1:223538147-223538148	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs144084575	chr1:223538218-223538219	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs112395465	chr1:223538291-223538292	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs564503539	chr1:223538295-223538296	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs117817753	chr1:223538358-223538359	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs112772020	chr1:223538399-223538400	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs181671692	chr1:223538425-223538426	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs117941810	chr1:223538444-223538445	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs576085364	chr1:223538447-223538448	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs144427708	chr1:223538543-223538544	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs537735237	chr1:223538553-223538554	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs377647728	chr1:223538569-223538570	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs111807245	chr1:223538581-223538582	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs577283589	chr1:223538595-223538596	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	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
Congenital diaphragmatic hernia	21085971	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
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223535800-223538200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:223535800-223538800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:223535800-223538800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:223535800-223538800	Active TSS	Ovary	ovary
5	chr1:223535800-223539000	Active TSS	Brain Anterior Caudate	brain
6	chr1:223536000-223538200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
7	chr1:223536000-223538400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr1:223536000-223538600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:223536000-223538600	Active TSS	Brain Hippocampus Middle	brain
10	chr1:223536200-223537400	Flanking Active TSS	HSMM	muscle
11	chr1:223536200-223538600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:223536200-223538800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:223536200-223538800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:223536200-223539000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:223536200-223539000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:223536200-223539000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:223536400-223537000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:223536400-223537000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:223536400-223537000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr1:223536400-223537000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:223536400-223537000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr1:223536400-223537000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:223536400-223537000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:223536400-223537000	Flanking Active TSS	Pancreas	Pancrea
25	chr1:223536400-223537000	Bivalent/Poised TSS	Osteobl	bone
26	chr1:223536400-223537200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr1:223536400-223537200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr1:223536400-223537200	Flanking Active TSS	Right Atrium	heart
29	chr1:223536400-223537200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr1:223536400-223537200	Flanking Bivalent TSS/Enh	Thymus	Thymus
31	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chr1:223536400-223537400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
35	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
36	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
38	chr1:223536400-223537400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr1:223536400-223537400	Flanking Active TSS	Dnd41	blood
40	chr1:223536400-223537400	Flanking Bivalent TSS/Enh	NH-A	brain
41	chr1:223536400-223537600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr1:223536400-223537600	Active TSS	Fetal Kidney	kidney
49	chr1:223536400-223537600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr1:223536400-223538000	Active TSS	HSMMtube	muscle

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