Variant report

Variant	esv3372993
Chromosome Location	chr4:3294704-3297502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:194)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:194 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:3295622-3295699	K562	blood:	n/a	n/a
2	BRCA1	chr4:3295798-3295907	GM12878	blood:	n/a	n/a
3	CCNT2	chr4:3294235-3295326	K562	blood:	n/a	n/a
4	CEBPB	chr4:3297260-3297479	K562	blood:	n/a	n/a
5	CEBPD	chr4:3294628-3295006	HepG2	liver:	n/a	n/a
6	CHD2	chr4:3294284-3294796	Hela-S3	cervix:	n/a	n/a
7	CREB1	chr4:3294148-3294804	GM12878	blood:	n/a	n/a
8	CREB1	chr4:3294275-3294746	A549	lung:	n/a	n/a
9	CREB1	chr4:3293236-3294971	HepG2	liver:	n/a	n/a
10	CREB1	chr4:3294300-3294737	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr4:3295676-3295726	GM13976	blood:	n/a	n/a
12	CTCF	chr4:3295440-3295590	NHDF-neo	bronchial:	n/a	n/a
13	CTCF	chr4:3295496-3295628	GM12878	blood:	n/a	n/a
14	CTCF	chr4:3295920-3296070	HUVEC	blood vessel:	n/a	n/a
15	CUX1	chr4:3295270-3295300	K562	blood:	n/a	n/a
16	E2F6	chr4:3294991-3295244	K562	blood:	n/a	n/a
17	E2F6	chr4:3293851-3294917	K562	blood:	n/a	chr4:3294103-3294112 chr4:3293858-3293870 chr4:3293969-3293979 chr4:3294491-3294500
18	E2F6	chr4:3294664-3294852	K562	blood:	n/a	n/a
19	E2F6	chr4:3294687-3294846	K562	blood:	n/a	n/a
20	EGR1	chr4:3294367-3295340	K562	blood:	n/a	chr4:3294850-3294864 chr4:3294865-3294875 chr4:3294510-3294523 chr4:3294864-3294878 chr4:3294507-3294521
21	EGR1	chr4:3294351-3295319	K562	blood:	n/a	chr4:3294850-3294864 chr4:3294865-3294875 chr4:3294510-3294523 chr4:3294864-3294878 chr4:3294507-3294521
22	EGR1	chr4:3294028-3295338	HCT-116	colon:	n/a	chr4:3294850-3294864 chr4:3294865-3294875 chr4:3294186-3294199 chr4:3294510-3294523 chr4:3294864-3294878 chr4:3294507-3294521 chr4:3294060-3294070 chr4:3294045-3294058
23	EGR1	chr4:3294737-3294933	GM12878	blood:	n/a	chr4:3294850-3294864 chr4:3294865-3294875 chr4:3294864-3294878
24	EP300	chr4:3294402-3294861	K562	blood:	n/a	n/a
25	EP300	chr4:3295287-3295449	HepG2	liver:	n/a	n/a
26	GABPA	chr4:3294138-3294804	SK-N-SH	brain:	n/a	chr4:3294491-3294500
27	GABPA	chr4:3295087-3295324	H1-hESC	embryonic stem cell:	n/a	n/a
28	GABPA	chr4:3294148-3294774	HL-60	blood:	n/a	chr4:3294491-3294500
29	HA-E2F1	chr4:3294624-3295344	Hela-S3	cervix:	n/a	n/a
30	HA-E2F1	chr4:3295082-3295837	MCF-7	breast:	n/a	n/a
31	HCFC1	chr4:3293483-3294849	Hela-S3	cervix:	n/a	n/a
32	HCFC1	chr4:3294766-3295027	K562	blood:	n/a	n/a
33	HCFC1	chr4:3295239-3295392	K562	blood:	n/a	n/a
34	HDAC2	chr4:3294009-3294752	MCF-7	breast:	n/a	n/a
35	HEY1	chr4:3294665-3295020	HepG2	liver:	n/a	n/a
36	HEY1	chr4:3294634-3295013	HepG2	liver:	n/a	n/a
37	HEY1	chr4:3295056-3295292	K562	blood:	n/a	n/a
38	HEY1	chr4:3294662-3294998	K562	blood:	n/a	n/a
39	HEY1	chr4:3294677-3295003	K562	blood:	n/a	n/a
40	HMGN3	chr4:3293727-3295396	K562	blood:	n/a	n/a
41	IRF1	chr4:3294149-3295422	K562	blood:	n/a	chr4:3294505-3294519
42	JUND	chr4:3295304-3295397	K562	blood:	n/a	n/a
43	MAFK	chr4:3295278-3295391	K562	blood:	n/a	n/a
44	MAX	chr4:3293760-3294790	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr4:3293257-3294767	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr4:3293251-3294808	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr4:3293327-3294771	MCF-7	breast:	n/a	n/a
48	MAX	chr4:3293243-3296204	HepG2	liver:	n/a	n/a
49	MAX	chr4:3293516-3294722	Hela-S3	cervix:	n/a	n/a
50	MAX	chr4:3293646-3294732	NB4	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3295736-3295786	SAEC	small airway:	n/a
2	chr4:3296283-3296333	HIPEpiC	eye:	n/a
3	chr4:3296283-3296333	HepG2	liver:	n/a
4	chr4:3295736-3295786	ECC-1	luminal epithelium:	n/a
5	chr4:3295736-3295786	NHBE	bronchial:	n/a
6	chr4:3295736-3295786	BE2_C	brain:	n/a
7	chr4:3296283-3296333	IMR90	lung:	fetal
8	chr4:3295736-3295786	T-47D	breast:	n/a
9	chr4:3295736-3295786	GM12891	blood:	n/a
10	chr4:3295736-3295786	HIPEpiC	eye:	n/a
11	chr4:3295736-3295786	AG09319	gingival:	n/a
12	chr4:3296283-3296333	NH-A	brain:	n/a
13	chr4:3296283-3296333	SK-N-SH	brain:	n/a
14	chr4:3296283-3296333	LNCaP	prostate:	n/a
15	chr4:3295736-3295786	A549	lung:	n/a
16	chr4:3296283-3296333	AG04449	skin:	fetal
17	chr4:3295736-3295786	HRCEpiC	kidney:	n/a
18	chr4:3295736-3295786	BJ	skin:	n/a
19	chr4:3295736-3295786	HEEpiC	esophagus:	n/a
20	chr4:3296283-3296333	AG04450	lung:	fetal
21	chr4:3295736-3295786	Jurkat	blood:	n/a
22	chr4:3296283-3296333	GM19239	blood:	n/a
23	chr4:3295736-3295786	HPAEpiC	pulmonary alveolar:	n/a
24	chr4:3296283-3296333	HPAEpiC	pulmonary alveolar:	n/a
25	chr4:3295736-3295786	HL-60	blood:	n/a
26	chr4:3296283-3296333	SAEC	small airway:	n/a
27	chr4:3295736-3295786	H1-hESC	embryonic stem cell:	embryo
28	chr4:3295736-3295786	NH-A	brain:	n/a
29	chr4:3295736-3295786	AG04449	skin:	fetal
30	chr4:3296283-3296333	Jurkat	blood:	n/a
31	chr4:3296283-3296333	H1-hESC	embryonic stem cell:	embryo
32	chr4:3296283-3296333	HCF	heart:	n/a
33	chr4:3295736-3295786	GM06990	blood:	n/a
34	chr4:3295736-3295786	HRPEpiC	eye:	n/a
35	chr4:3296283-3296333	GM12878	blood:	n/a
36	chr4:3296283-3296333	HCPEpiC	choroid plexus:	n/a
37	chr4:3295736-3295786	RPTEC	kidney:	n/a
38	chr4:3296283-3296333	K562	blood:	n/a
39	chr4:3296283-3296333	GM12891	blood:	n/a
40	chr4:3295736-3295786	K562	blood:	n/a
41	chr4:3296283-3296333	Hela-S3	cervix:	n/a
42	chr4:3296283-3296333	AoSMC	blood vessel:	n/a
43	chr4:3296283-3296333	HEK293	kidney:	embryo
44	chr4:3295736-3295786	MCF-7	breast:	n/a
45	chr4:3295736-3295786	HMEC	breast:	n/a
46	chr4:3295736-3295786	NT2-D1	testis:	n/a
47	chr4:3296283-3296333	HEEpiC	esophagus:	n/a
48	chr4:3296283-3296333	SK-N-SH_RA	brain:	n/a
49	chr4:3296283-3296333	NHDF-neo	bronchial:	n/a
50	chr4:3296283-3296333	GM12892	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3292471..3295854-chr4:3462941..3467927,8	MCF-7	breast:
2	chr4:2798786..2800390-chr4:3294087..3295620,2	MCF-7	breast:
3	chr4:3287370..3290195-chr4:3296120..3298356,2	K562	blood:
4	chr4:3292637..3295776-chr4:3483843..3488274,4	MCF-7	breast:
5	chr4:3293485..3295010-chr4:3317459..3319780,2	K562	blood:
6	chr4:3074885..3077461-chr4:3292207..3294882,2	MCF-7	breast:
7	chr4:3293993..3296488-chr4:3491954..3495229,3	MCF-7	breast:
8	chr4:3294234..3297919-chr4:3387466..3390148,3	MCF-7	breast:
9	chr4:3297413..3300399-chr4:3305342..3309576,4	MCF-7	breast:
10	chr4:3292758..3295748-chr4:3341243..3344299,3	MCF-7	breast:
11	chr4:3249484..3252398-chr4:3294414..3296079,2	K562	blood:

No data

Variant related genes	Relation type
RGS12	TF binding region
RGS12	CpG island
ENSG00000197386	chromatin interactions
ENSG00000251075	chromatin interactions
ENSG00000159788	chromatin interactions
ENSG00000175920	chromatin interactions
ENSG00000087266	chromatin interactions
ENSG00000188981	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544696023	chr4:3294760-3294761	Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs189988058	chr4:3294932-3294933	Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs532215407	chr4:3295031-3295032	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs139468582	chr4:3295179-3295180	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs34020206	chr4:3295184-3295185	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs114424534	chr4:3295195-3295196	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs548916830	chr4:3295231-3295232	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs371553023	chr4:3295268-3295269	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs116824562	chr4:3295294-3295295	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs199879712	chr4:3295385-3295386	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs71636711	chr4:3295393-3295394	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs71608262	chr4:3295400-3295401	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs71608263	chr4:3295412-3295413	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs71636712	chr4:3295417-3295418	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs56342126	chr4:3295426-3295427	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs74196159	chr4:3295430-3295431	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs71636714	chr4:3295441-3295442	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs71608264	chr4:3295444-3295445	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs71636715	chr4:3295446-3295447	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs71608265	chr4:3295451-3295452	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs73077114	chr4:3295468-3295469	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs551686383	chr4:3295477-3295478	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs199892944	chr4:3295493-3295494	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs141631008	chr4:3295497-3295498	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs74189016	chr4:3295499-3295500	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs74220817	chr4:3295508-3295509	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs74195845	chr4:3295518-3295519	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs112245772	chr4:3295522-3295523	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs66467536	chr4:3295540-3295541	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs373675946	chr4:3295554-3295555	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs370546563	chr4:3295559-3295560	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs112814731	chr4:3295560-3295561	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs386670671	chr4:3295568-3295569	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs538419057	chr4:3295573-3295574	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs556625275	chr4:3295585-3295586	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs567032410	chr4:3295616-3295617	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs140363112	chr4:3295634-3295635	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs139874671	chr4:3295664-3295665	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs77303995	chr4:3295667-3295668	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs386670672	chr4:3295672-3295673	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs3129313	chr4:3295675-3295676	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs3129312	chr4:3295677-3295678	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs3135068	chr4:3295685-3295686	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs372311040	chr4:3295691-3295692	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs3135067	chr4:3295694-3295695	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs368743942	chr4:3295700-3295701	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs371705758	chr4:3295704-3295705	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs386670673	chr4:3295706-3295707	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs71180120	chr4:3295710-3295711	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs386670674	chr4:3295711-3295712	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3292600-3295600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:3293000-3295600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:3293200-3295400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:3293200-3295600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:3293200-3295600	Active TSS	Hela-S3	cervix
6	chr4:3293200-3295600	Active TSS	NHDF-Ad	bronchial
7	chr4:3293200-3295600	Active TSS	NHLF	lung
8	chr4:3293200-3295800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr4:3293200-3295800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:3293400-3295400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:3293400-3295400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr4:3293400-3295400	Active TSS	Psoas Muscle	Psoas
13	chr4:3293400-3295600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:3293400-3295600	Active TSS	Placenta Amnion	Placenta Amnion
15	chr4:3293600-3295200	Active TSS	Pancreas	Pancrea
16	chr4:3293600-3295200	Active TSS	HepG2	liver
17	chr4:3293600-3295400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:3293600-3295400	Active TSS	Aorta	Aorta
19	chr4:3293600-3295400	Active TSS	Esophagus	oesophagus
20	chr4:3293600-3295400	Active TSS	Fetal Brain Female	brain
21	chr4:3293600-3295400	Active TSS	Left Ventricle	heart
22	chr4:3293600-3295400	Active TSS	Right Atrium	heart
23	chr4:3293600-3295600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:3293600-3295600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr4:3293600-3295600	Active TSS	Ovary	ovary
26	chr4:3293600-3296000	Active TSS	HSMMtube	muscle
27	chr4:3293600-3297000	Active TSS	Fetal Kidney	kidney
28	chr4:3293800-3295200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr4:3293800-3295200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:3293800-3295200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:3293800-3295200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:3293800-3295200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr4:3293800-3295400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:3293800-3295400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr4:3293800-3295400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:3293800-3295400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr4:3293800-3295400	Active TSS	Brain Anterior Caudate	brain
38	chr4:3293800-3295400	Active TSS	Colon Smooth Muscle	Colon
39	chr4:3293800-3295400	Active TSS	Fetal Intestine Large	intestine
40	chr4:3293800-3295400	Active TSS	Fetal Intestine Small	intestine
41	chr4:3293800-3295400	Active TSS	Fetal Stomach	stomach
42	chr4:3293800-3295400	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr4:3293800-3295400	Active TSS	Osteobl	bone
44	chr4:3293800-3295600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:3293800-3295600	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr4:3293800-3295600	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr4:3293800-3295600	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr4:3293800-3295600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:3293800-3295600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:3293800-3295600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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