Variant report

Variant	esv3414941
Chromosome Location	chr4:2845004-2846852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:448)
CpG islands
(count:549)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:2845264-2845393	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:2846181-2846562	K562	blood:	n/a	n/a
3	BCL3	chr4:2844893-2845800	GM12878	blood:	n/a	chr4:2845524-2845537 chr4:2845229-2845242 chr4:2845233-2845246 chr4:2845234-2845243 chr4:2845065-2845078
4	BCLAF1	chr4:2844925-2845678	GM12878	blood:	n/a	chr4:2845524-2845537 chr4:2845229-2845242 chr4:2845233-2845246 chr4:2845234-2845243 chr4:2845065-2845078
5	BHLHE40	chr4:2845342-2845594	GM12878	blood:	n/a	chr4:2845471-2845487
6	BHLHE40	chr4:2845267-2845618	K562	blood:	n/a	chr4:2845471-2845487
7	BHLHE40	chr4:2844824-2845063	K562	blood:	n/a	n/a
8	BHLHE40	chr4:2846072-2846368	K562	blood:	n/a	n/a
9	BRCA1	chr4:2844978-2845044	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr4:2846030-2846122	H1-hESC	embryonic stem cell:	n/a	n/a
11	CBX3	chr4:2845973-2846333	K562	blood:	n/a	n/a
12	CCNT2	chr4:2844952-2846322	K562	blood:	n/a	chr4:2846046-2846055
13	CEBPD	chr4:2845112-2845802	HepG2	liver:	n/a	n/a
14	CEBPD	chr4:2845263-2845707	HepG2	liver:	n/a	n/a
15	CEBPD	chr4:2845943-2846521	K562	blood:	n/a	n/a
16	CEBPD	chr4:2845921-2846503	K562	blood:	n/a	n/a
17	CHD1	chr4:2845933-2846533	GM12878	blood:	n/a	n/a
18	CHD1	chr4:2845196-2845521	GM12878	blood:	n/a	n/a
19	CHD2	chr4:2845026-2845715	GM12878	blood:	n/a	n/a
20	CHD2	chr4:2845006-2845033	K562	blood:	n/a	n/a
21	CHD2	chr4:2845369-2845667	HepG2	liver:	n/a	n/a
22	CHD2	chr4:2845329-2845713	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr4:2845273-2845712	K562	blood:	n/a	n/a
24	CHD2	chr4:2844911-2845728	Hela-S3	cervix:	n/a	n/a
25	CREB1	chr4:2845009-2845736	A549	lung:	n/a	n/a
26	CREB1	chr4:2844629-2845925	HepG2	liver:	n/a	n/a
27	CTBP2	chr4:2844779-2845575	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr4:2844980-2845130	GM12873	blood:	n/a	n/a
29	CTCF	chr4:2844900-2845050	GM12871	blood:	n/a	chr4:2844954-2844967
30	CTCF	chr4:2845500-2845650	AG04449	skin:	n/a	n/a
31	CTCF	chr4:2844860-2845010	HEEpiC	esophagus:	n/a	chr4:2844954-2844967
32	CTCF	chr4:2844900-2845050	HBMEC	blood vessel:	n/a	chr4:2844954-2844967
33	CTCF	chr4:2845181-2845521	K562	blood:	n/a	n/a
34	CTCF	chr4:2844880-2845030	AG10803	skin:	n/a	chr4:2844954-2844967
35	CTCF	chr4:2844960-2845110	NHEK	skin:	n/a	n/a
36	CTCF	chr4:2845160-2845310	AG04449	skin:	n/a	n/a
37	CUX1	chr4:2846386-2846666	K562	blood:	n/a	n/a
38	E2F4	chr4:2845060-2845661	MCF10A-Er-Src	breast:	n/a	chr4:2845234-2845244 chr4:2845236-2845248 chr4:2845417-2845427
39	E2F6	chr4:2845273-2845676	K562	blood:	n/a	chr4:2845417-2845427
40	E2F6	chr4:2845320-2845576	K562	blood:	n/a	chr4:2845417-2845427
41	EBF1	chr4:2846461-2846463	GM12878	blood:	n/a	n/a
42	EBF1	chr4:2845985-2846009	GM12878	blood:	n/a	chr4:2845990-2845999
43	EGR1	chr4:2844878-2845263	K562	blood:	n/a	chr4:2845073-2845083
44	EGR1	chr4:2844942-2845196	K562	blood:	n/a	chr4:2845073-2845083
45	EGR1	chr4:2845623-2845817	GM12878	blood:	n/a	n/a
46	EGR1	chr4:2845428-2846206	K562	blood:	n/a	chr4:2846047-2846060 chr4:2846050-2846060
47	EGR1	chr4:2845307-2845913	GM12878	blood:	n/a	n/a
48	EGR1	chr4:2845513-2845800	H1-hESC	embryonic stem cell:	n/a	n/a
49	EGR1	chr4:2845320-2846238	K562	blood:	n/a	chr4:2846047-2846060 chr4:2846050-2846060
50	ELF1	chr4:2845341-2845643	HepG2	liver:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:2845671-2845721	MCF-7	breast:	n/a
2	chr4:2845120-2845170	AG10803	skin:	n/a
3	chr4:2846155-2846205	HMEC	breast:	n/a
4	chr4:2846155-2846205	ovcar-3	ovarian:	n/a
5	chr4:2845444-2845494	Hepatocyte	liver:	n/a
6	chr4:2846155-2846205	GM12892	blood:	n/a
7	chr4:2845331-2845381	PrEC	prostate:	n/a
8	chr4:2846155-2846205	CMK	blood:	n/a
9	chr4:2845444-2845494	RPTEC	kidney:	n/a
10	chr4:2845331-2845381	AG04449	skin:	fetal
11	chr4:2846155-2846205	HEK293	kidney:	embryo
12	chr4:2846155-2846205	NT2-D1	testis:	n/a
13	chr4:2845331-2845381	Hela-S3	cervix:	n/a
14	chr4:2845671-2845721	LNCaP	prostate:	n/a
15	chr4:2845576-2845626	RPTEC	kidney:	n/a
16	chr4:2845453-2845503	MCF-7	breast:	n/a
17	chr4:2845967-2846017	HCM	heart:	n/a
18	chr4:2845444-2845494	CMK	blood:	n/a
19	chr4:2845967-2846017	HIPEpiC	eye:	n/a
20	chr4:2845967-2846017	NHDF-neo	bronchial:	n/a
21	chr4:2845235-2845285	GM19239	blood:	n/a
22	chr4:2845576-2845626	GM12891	blood:	n/a
23	chr4:2845967-2846017	HRPEpiC	eye:	n/a
24	chr4:2845453-2845503	ECC-1	luminal epithelium:	n/a
25	chr4:2845576-2845626	Jurkat	blood:	n/a
26	chr4:2845453-2845503	SK-N-SH_RA	brain:	n/a
27	chr4:2845444-2845494	NB4	blood:	n/a
28	chr4:2845444-2845494	K562	blood:	n/a
29	chr4:2845576-2845626	Hela-S3	cervix:	n/a
30	chr4:2845120-2845170	U87	brain:	n/a
31	chr4:2845235-2845285	MCF-7	breast:	n/a
32	chr4:2845235-2845285	A549	lung:	n/a
33	chr4:2846155-2846205	NH-A	brain:	n/a
34	chr4:2845671-2845721	SAEC	small airway:	n/a
35	chr4:2845331-2845381	HAEpiC	amniotic membrane:	n/a
36	chr4:2845444-2845494	HCM	heart:	n/a
37	chr4:2845671-2845721	BJ	skin:	n/a
38	chr4:2845444-2845494	GM12891	blood:	n/a
39	chr4:2845671-2845721	NHBE	bronchial:	n/a
40	chr4:2845671-2845721	PrEC	prostate:	n/a
41	chr4:2845967-2846017	SK-N-SH	brain:	n/a
42	chr4:2845671-2845721	GM06990	blood:	n/a
43	chr4:2845576-2845626	SAEC	small airway:	n/a
44	chr4:2846155-2846205	RPTEC	kidney:	n/a
45	chr4:2845967-2846017	HRCEpiC	kidney:	n/a
46	chr4:2845671-2845721	NB4	blood:	n/a
47	chr4:2845671-2845721	HL-60	blood:	n/a
48	chr4:2845235-2845285	GM12892	blood:	n/a
49	chr4:2846155-2846205	Hela-S3	cervix:	n/a
50	chr4:2845576-2845626	AG04449	skin:	fetal

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2846265..2848875-chr4:2873594..2875378,2	K562	blood:
2	chr4:2845175..2847151-chr4:2963481..2966387,2	MCF-7	breast:
3	chr4:2844667..2846499-chr4:2932403..2934582,2	MCF-7	breast:
4	chr17:57917834..57920077-chr4:2844330..2846361,2	MCF-7	breast:
5	chr4:2844628..2846821-chr4:2925950..2928753,2	MCF-7	breast:
6	chr4:2824402..2830718-chr4:2842859..2847645,11	MCF-7	breast:
7	chr4:2818848..2822289-chr4:2843327..2846796,5	MCF-7	breast:
8	chr4:2818404..2821312-chr4:2845258..2848491,3	MCF-7	breast:
9	chr4:2822347..2826976-chr4:2843259..2846653,5	MCF-7	breast:
10	chr4:2844829..2846512-chr4:2941018..2943974,2	K562	blood:
11	chr4:2846050..2847976-chr4:2912063..2913866,2	MCF-7	breast:
12	chr4:2756622..2759640-chr4:2845812..2847874,4	MCF-7	breast:
13	chr4:2795244..2797486-chr4:2845439..2847269,2	MCF-7	breast:
14	chr4:2843889..2847586-chr4:2849028..2855037,6	K562	blood:
15	chr4:2757142..2759393-chr4:2842701..2846291,4	MCF-7	breast:
16	chr4:2842830..2845663-chr4:2899333..2901190,2	K562	blood:
17	chr4:2844179..2847079-chr4:2935598..2937938,4	MCF-7	breast:
18	chr16:70557116..70557750-chr4:2844961..2845735,2	NB4	blood:
19	chr4:2845404..2847784-chr4:2938194..2940916,3	MCF-7	breast:
20	chr4:2757710..2760448-chr4:2844046..2847029,2	K562	blood:
21	chr4:2798106..2801583-chr4:2843513..2845994,4	MCF-7	breast:
22	chr4:2794525..2804465-chr4:2841103..2847851,19	MCF-7	breast:
23	chr4:2821818..2824046-chr4:2844267..2845999,2	MCF-7	breast:
24	chr4:2844741..2846381-chr4:2928922..2931560,2	MCF-7	breast:
25	chr4:2842030..2853279-chr4:2934021..2940851,24	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3BP2-2	chr4:2845680-2845751	NONHSAT094813

No data

Variant related genes	Relation type
ADD1	TF binding region
ADD1	CpG island
ENSG00000087266	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000125388	chromatin interactions
ENSG00000249673	chromatin interactions
ENSG00000087274	chromatin interactions
ENSG00000189091	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000109736	chromatin interactions
ENSG00000168884	chromatin interactions
ENSG00000087269	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 65 )

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	rs570120235	chr4:2845004-2845005	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs553322563	chr4:2845011-2845012	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs537644648	chr4:2845018-2845019	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs556292652	chr4:2845020-2845021	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs116541370	chr4:2845048-2845049	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs182279111	chr4:2845054-2845055	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs116059356	chr4:2845057-2845058	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs116335552	chr4:2845061-2845062	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs373810054	chr4:2845103-2845104	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs544728200	chr4:2845114-2845115	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs561191970	chr4:2845121-2845122	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs571704338	chr4:2845144-2845145	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs542175673	chr4:2845156-2845157	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs540187939	chr4:2845175-2845176	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs560422748	chr4:2845188-2845189	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs560653034	chr4:2845218-2845219	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs541575116	chr4:2845223-2845224	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs552590747	chr4:2845229-2845230	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs569461470	chr4:2845246-2845247	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs35626020	chr4:2845270-2845271	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs35780153	chr4:2845274-2845275	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs550664330	chr4:2845287-2845288	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs34576360	chr4:2845368-2845369	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs536254158	chr4:2845413-2845414	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs546660813	chr4:2845415-2845416	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs369648974	chr4:2845429-2845430	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs538964060	chr4:2845446-2845447	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs558560072	chr4:2845447-2845448	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs35913891	chr4:2845481-2845482	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537617783	chr4:2845612-2845613	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs555048832	chr4:2845627-2845628	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs4960	chr4:2845678-2845679	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs540320450	chr4:2845691-2845692	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
34	rs560160287	chr4:2845717-2845718	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
35	rs576704252	chr4:2845859-2845860	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs576803841	chr4:2845876-2845877	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs546510232	chr4:2845909-2845910	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs6841701	chr4:2845920-2845921	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs565462385	chr4:2845946-2845947	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs374219969	chr4:2845984-2845985	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs145181510	chr4:2845998-2845999	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs548444082	chr4:2846021-2846022	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs560972973	chr4:2846059-2846060	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs529865411	chr4:2846085-2846086	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs546699491	chr4:2846229-2846230	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs115608470	chr4:2846231-2846232	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs184071864	chr4:2846244-2846245	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs146656362	chr4:2846245-2846246	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs369989286	chr4:2846303-2846304	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs538054774	chr4:2846350-2846351	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD
Facial dysmorphism	22438245	CNVD
Wolf-Hirschhorn syndrome	22438245	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2844200-2845200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr4:2844400-2845200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr4:2844400-2845200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:2844400-2845200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:2844400-2845200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:2844400-2845200	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr4:2844400-2845200	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr4:2844400-2845200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr4:2844400-2845200	Flanking Active TSS	NH-A	brain
10	chr4:2844400-2845200	Flanking Active TSS	NHEK	skin
11	chr4:2844400-2845400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr4:2844400-2846800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr4:2844600-2845200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr4:2844600-2845200	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr4:2844600-2845200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr4:2844600-2845200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr4:2844600-2845200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr4:2844600-2845200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:2844600-2845200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr4:2844600-2845200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:2844600-2845200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:2844600-2845200	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr4:2844600-2845200	Flanking Active TSS	Fetal Thymus	thymus
24	chr4:2844600-2845200	Flanking Active TSS	HMEC	breast
25	chr4:2844600-2845200	Flanking Active TSS	HUVEC	blood vessel
26	chr4:2844600-2846400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr4:2844600-2846600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr4:2844600-2846600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:2844600-2846800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:2844600-2847000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:2844600-2847400	Active TSS	Brain Angular Gyrus	brain
32	chr4:2844600-2847400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr4:2844600-2847400	Active TSS	Ovary	ovary
34	chr4:2844800-2845200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:2844800-2845200	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr4:2844800-2845200	Flanking Active TSS	Placenta	Placenta
37	chr4:2844800-2845600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:2844800-2846000	Active TSS	HepG2	liver
39	chr4:2844800-2846200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr4:2844800-2846400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:2844800-2846600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr4:2844800-2846600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:2844800-2846600	Active TSS	Fetal Kidney	kidney
44	chr4:2844800-2846600	Active TSS	Placenta Amnion	Placenta Amnion
45	chr4:2844800-2846600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr4:2844800-2846800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:2844800-2846800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr4:2844800-2846800	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr4:2844800-2846800	Active TSS	Aorta	Aorta
50	chr4:2844800-2847000	Active TSS	Duodenum Smooth Muscle	Duodenum

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