Variant report

Variant	esv14348
Chromosome Location	chr4:7043979-7045994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:611)
CpG islands
(count:916)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:7044760-7044954	K562	blood:	n/a	n/a
2	ARID3A	chr4:7044722-7044922	HepG2	liver:	n/a	n/a
3	BACH1	chr4:7044587-7045024	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr4:7044082-7044194	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr4:7044156-7044392	K562	blood:	n/a	n/a
6	BHLHE40	chr4:7044640-7044927	K562	blood:	n/a	chr4:7044684-7044700
7	BHLHE40	chr4:7045367-7045662	K562	blood:	n/a	n/a
8	BHLHE40	chr4:7045671-7046237	GM12878	blood:	n/a	n/a
9	BHLHE40	chr4:7045972-7046032	K562	blood:	n/a	n/a
10	BHLHE40	chr4:7044618-7045423	GM12878	blood:	n/a	chr4:7044926-7044942 chr4:7044684-7044700
11	BRCA1	chr4:7044749-7044921	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr4:7044684-7044922	K562	blood:	n/a	n/a
13	CCNT2	chr4:7044207-7046106	K562	blood:	n/a	n/a
14	CEBPB	chr4:7045622-7045965	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr4:7045729-7046021	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:7045725-7046023	A549	lung:	n/a	n/a
17	CEBPB	chr4:7045752-7045963	IMR90	lung:	n/a	n/a
18	CEBPB	chr4:7045713-7046083	K562	blood:	n/a	n/a
19	CEBPD	chr4:7044885-7045231	HepG2	liver:	n/a	n/a
20	CHD1	chr4:7045256-7046943	IMR90	lung:	n/a	n/a
21	CHD1	chr4:7045356-7045857	GM12878	blood:	n/a	n/a
22	CHD2	chr4:7045639-7045945	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr4:7044120-7044260	K562	blood:	n/a	n/a
24	CHD2	chr4:7044591-7045017	K562	blood:	n/a	chr4:7044936-7044946
25	CHD2	chr4:7045316-7045828	GM12878	blood:	n/a	n/a
26	CHD2	chr4:7044505-7045125	Hela-S3	cervix:	n/a	chr4:7044936-7044946
27	CHD2	chr4:7044478-7044859	HepG2	liver:	n/a	n/a
28	CHD2	chr4:7044530-7045008	GM12878	blood:	n/a	chr4:7044936-7044946
29	CHD2	chr4:7044618-7044979	H1-hESC	embryonic stem cell:	n/a	chr4:7044936-7044946
30	CHD2	chr4:7045380-7045488	HepG2	liver:	n/a	n/a
31	CREB1	chr4:7044526-7045083	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr4:7044532-7045192	A549	lung:	n/a	n/a
33	CREB1	chr4:7044570-7045005	ECC-1	luminal epithelium:	n/a	n/a
34	CREB1	chr4:7044100-7046023	HepG2	liver:	n/a	n/a
35	CREB1	chr4:7044536-7045007	HepG2	liver:	n/a	n/a
36	CREB1	chr4:7044497-7045106	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr4:7044477-7045156	GM12878	blood:	n/a	n/a
38	CTCF	chr4:7044900-7045050	HMF	breast:	n/a	n/a
39	CTCF	chr4:7044917-7045110	Medullo	brain:	n/a	n/a
40	CTCF	chr4:7044839-7045095	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr4:7044900-7045050	AG04449	skin:	n/a	n/a
42	CTCF	chr4:7044900-7045050	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr4:7044900-7045050	GM12874	blood:	n/a	n/a
44	CTCF	chr4:7044940-7045090	GM12866	blood:	n/a	n/a
45	CTCF	chr4:7044880-7045030	HVMF	connective:	n/a	n/a
46	CTCF	chr4:7043900-7044050	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr4:7044900-7045050	SAEC	small airway:	n/a	n/a
48	CTCF	chr4:7044940-7045090	HCT-116	colon:	n/a	n/a
49	CTCF	chr4:7044920-7045070	AG09319	gingival:	n/a	n/a
50	CTCF	chr4:7044920-7045070	BE2_C	brain:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:7044968-7045018	ovcar-3	ovarian:	n/a
2	chr4:7044968-7045018	ovcar-3	ovarian:	n/a
3	chr4:7044595-7044645	AoSMC	blood vessel:	n/a
4	chr4:7044983-7045033	BJ	skin:	n/a
5	chr4:7044863-7044913	HRPEpiC	eye:	n/a
6	chr4:7044990-7045040	NHBE	bronchial:	n/a
7	chr4:7044978-7045028	GM06990	blood:	n/a
8	chr4:7045168-7045218	SK-N-MC	brain:	n/a
9	chr4:7044873-7044923	LNCaP	prostate:	n/a
10	chr4:7045720-7045770	SK-N-SH	brain:	n/a
11	chr4:7044737-7044787	PrEC	prostate:	n/a
12	chr4:7043935-7043985	HEEpiC	esophagus:	n/a
13	chr4:7044968-7045018	Caco-2	colon:	n/a
14	chr4:7045720-7045770	GM12878	blood:	n/a
15	chr4:7044873-7044923	GM06990	blood:	n/a
16	chr4:7044981-7045031	NT2-D1	testis:	n/a
17	chr4:7045183-7045233	IMR90	lung:	fetal
18	chr4:7044968-7045018	AG09309	skin:	n/a
19	chr4:7044981-7045031	GM12878	blood:	n/a
20	chr4:7044595-7044645	Hela-S3	cervix:	n/a
21	chr4:7045720-7045770	HRPEpiC	eye:	n/a
22	chr4:7044863-7044913	HIPEpiC	eye:	n/a
23	chr4:7043935-7043985	SK-N-SH	brain:	n/a
24	chr4:7044990-7045040	MCF10A-Er-Src	breast:	n/a
25	chr4:7043935-7043985	AG09309	skin:	n/a
26	chr4:7044873-7044923	CMK	blood:	n/a
27	chr4:7043935-7043985	T-47D	breast:	n/a
28	chr4:7045720-7045770	GM12892	blood:	n/a
29	chr4:7044595-7044645	ProgFib	skin:	n/a
30	chr4:7044859-7044909	NHBE	bronchial:	n/a
31	chr4:7044595-7044645	NHBE	bronchial:	n/a
32	chr4:7044968-7045018	PrEC	prostate:	n/a
33	chr4:7044968-7045018	AG04449	skin:	fetal
34	chr4:7045183-7045233	ProgFib	skin:	n/a
35	chr4:7044863-7044913	Hela-S3	cervix:	n/a
36	chr4:7044968-7045018	HIPEpiC	eye:	n/a
37	chr4:7044595-7044645	HMEC	breast:	n/a
38	chr4:7044981-7045031	T-47D	breast:	n/a
39	chr4:7044737-7044787	AG04450	lung:	fetal
40	chr4:7044873-7044923	Caco-2	colon:	n/a
41	chr4:7044735-7044785	NH-A	brain:	n/a
42	chr4:7044990-7045040	Caco-2	colon:	n/a
43	chr4:7044983-7045033	MCF10A-Er-Src	breast:	n/a
44	chr4:7044735-7044785	ECC-1	luminal epithelium:	n/a
45	chr4:7045183-7045233	HCPEpiC	choroid plexus:	n/a
46	chr4:7044863-7044913	HCM	heart:	n/a
47	chr4:7045183-7045233	HPAEpiC	pulmonary alveolar:	n/a
48	chr4:7044595-7044645	ovcar-3	ovarian:	n/a
49	chr4:7044978-7045028	SAEC	small airway:	n/a
50	chr4:7044863-7044913	NHDF-neo	bronchial:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6674690..6677394-chr4:7044280..7046366,2	K562	blood:
2	chr11:58345437..58346957-chr4:7043706..7045674,2	K562	blood:
3	chr10:79691250..79693205-chr4:7045398..7046907,2	MCF-7	breast:
4	chr4:7031028..7032644-chr4:7045295..7046851,2	MCF-7	breast:
5	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
6	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
7	chr4:7043790..7046279-chr4:7102506..7105292,2	K562	blood:
8	chr4:6999660..7002155-chr4:7043088..7045317,3	MCF-7	breast:
9	chr4:7044811..7045632-chr4:7069385..7070353,2	NB4	blood:
10	chr4:6711584..6713629-chr4:7043225..7044994,2	MCF-7	breast:
11	chr4:6909981..6913772-chr4:7044379..7047071,5	MCF-7	breast:
12	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
13	chr4:7000132..7002859-chr4:7044384..7046741,2	MCF-7	breast:
14	chr4:6909683..6913053-chr4:7043553..7046923,6	MCF-7	breast:
15	chr4:6999677..7002587-chr4:7042055..7044238,2	K562	blood:

No data

Variant related genes	Relation type
TADA2B	TF binding region
CCDC96	TF binding region
TADA2B	CpG island
CCDC96	CpG island
ENSG00000132405	chromatin interactions
ENSG00000110031	chromatin interactions
ENSG00000245468	chromatin interactions
ENSG00000186660	chromatin interactions
ENSG00000178988	chromatin interactions
ENSG00000255073	chromatin interactions
ENSG00000251580	chromatin interactions
ENSG00000170846	chromatin interactions
ENSG00000109519	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139612326	chr4:7043981-7043982	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs371063673	chr4:7043994-7043995	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs75719146	chr4:7044006-7044007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs141859161	chr4:7044021-7044022	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs374287436	chr4:7044026-7044027	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs368710664	chr4:7044043-7044044	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs370554794	chr4:7044074-7044075	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs534252962	chr4:7044093-7044094	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs549220952	chr4:7044117-7044118	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs567489271	chr4:7044126-7044127	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs147077157	chr4:7044165-7044166	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs372351063	chr4:7044168-7044169	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs577899866	chr4:7044188-7044189	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs201135458	chr4:7044189-7044190	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs571129315	chr4:7044228-7044229	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs202179693	chr4:7044241-7044242	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs377654678	chr4:7044242-7044243	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs200887088	chr4:7044250-7044251	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs148696572	chr4:7044267-7044268	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs367797996	chr4:7044291-7044292	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs371584162	chr4:7044296-7044297	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs871133	chr4:7044357-7044358	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555516788	chr4:7044366-7044367	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs573851271	chr4:7044377-7044378	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs871134	chr4:7044380-7044381	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112443376	chr4:7044441-7044442	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs562714159	chr4:7044444-7044445	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs533254093	chr4:7044470-7044471	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs547781848	chr4:7044543-7044544	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs544978758	chr4:7044558-7044559	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs560456730	chr4:7044585-7044586	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs372279731	chr4:7044591-7044592	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs2359010	chr4:7044600-7044601	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs549040452	chr4:7044615-7044616	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs535061373	chr4:7044630-7044631	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs567402403	chr4:7044658-7044659	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs370057062	chr4:7044664-7044665	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs374155375	chr4:7044674-7044675	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs549950164	chr4:7044686-7044687	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs530149078	chr4:7044700-7044701	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs192060165	chr4:7044730-7044731	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs539270710	chr4:7044766-7044767	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs554177563	chr4:7044769-7044770	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs566428698	chr4:7044776-7044777	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs533573428	chr4:7044827-7044828	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs555428951	chr4:7044871-7044872	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs573771740	chr4:7044898-7044899	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs181720442	chr4:7044989-7044990	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs556347219	chr4:7044990-7044991	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs36033483	chr4:7045069-7045070	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7013200-7044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr4:7032800-7044000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr4:7034400-7044000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:7034400-7044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:7040000-7044000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:7042600-7044200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr4:7043000-7044000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr4:7043000-7044000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:7043200-7044000	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr4:7043200-7044200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:7043200-7044200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:7043200-7044200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:7043200-7044200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr4:7043200-7044600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr4:7043200-7044600	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr4:7043400-7044000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:7043400-7044000	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr4:7043400-7044200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:7043400-7044200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:7043400-7044200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr4:7043400-7044200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:7043400-7044200	Flanking Active TSS	Colonic Mucosa	Colon
23	chr4:7043400-7044200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr4:7043400-7044200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr4:7043400-7044400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:7043400-7044400	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr4:7043400-7044600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr4:7043400-7046600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr4:7043600-7044000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:7043600-7044000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr4:7043600-7044000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:7043600-7044000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:7043600-7044000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr4:7043600-7044000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:7043600-7044000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:7043600-7044000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:7043600-7044000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr4:7043600-7044000	Enhancers	Fetal Brain Male	brain
39	chr4:7043600-7044000	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr4:7043600-7044000	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr4:7043600-7044000	Flanking Active TSS	Gastric	stomach
42	chr4:7043600-7044000	Flanking Active TSS	Left Ventricle	heart
43	chr4:7043600-7044000	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr4:7043600-7044000	Flanking Active TSS	Right Atrium	heart
45	chr4:7043600-7044000	Flanking Active TSS	Right Ventricle	heart
46	chr4:7043600-7044000	Flanking Active TSS	HSMM	muscle
47	chr4:7043600-7044200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:7043600-7044200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr4:7043600-7044200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:7043600-7044200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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