Variant report

Variant	esv1794127
Chromosome Location	chr15:41245289-41276158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1013)
CpG islands
(count:1281)
Chromatin interactive
region (count:48)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1013 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:41245132-41245648	K562	blood:	n/a	n/a
2	ATF1	chr15:41248525-41248694	K562	blood:	n/a	n/a
3	ATF2	chr15:41249608-41250010	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr15:41244692-41246104	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr15:41246192-41246861	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr15:41244973-41246093	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr15:41250090-41250652	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr15:41248958-41250641	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr15:41248801-41249484	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr15:41245200-41245736	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr15:41245321-41245649	A549	lung:	n/a	n/a
12	ATF3	chr15:41245328-41245513	K562	blood:	n/a	n/a
13	ATF3	chr15:41245233-41245668	K562	blood:	n/a	n/a
14	ATF3	chr15:41245199-41245655	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr15:41245372-41245603	GM12878	blood:	n/a	n/a
16	BHLHE40	chr15:41245584-41245715	K562	blood:	n/a	n/a
17	BHLHE40	chr15:41245294-41245508	GM12878	blood:	n/a	n/a
18	BHLHE40	chr15:41250353-41250446	K562	blood:	n/a	n/a
19	BRCA1	chr15:41245140-41245776	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr15:41256931-41256949	GM12878	blood:	n/a	n/a
21	BRCA1	chr15:41253075-41253468	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr15:41245820-41245910	H1-hESC	embryonic stem cell:	n/a	n/a
23	CCNT2	chr15:41271774-41271957	K562	blood:	n/a	n/a
24	CCNT2	chr15:41245175-41245878	K562	blood:	n/a	chr15:41245582-41245591
25	CEBPB	chr15:41244949-41245689	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr15:41244867-41245996	HCT-116	colon:	n/a	n/a
27	CEBPB	chr15:41245278-41245617	HepG2	liver:	n/a	n/a
28	CEBPB	chr15:41245325-41245572	K562	blood:	n/a	n/a
29	CEBPB	chr15:41245185-41245712	A549	lung:	n/a	n/a
30	CEBPB	chr15:41245176-41245818	MCF-7	breast:	n/a	n/a
31	CEBPB	chr15:41244913-41245868	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr15:41245163-41245731	K562	blood:	n/a	n/a
33	CEBPB	chr15:41263741-41263934	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr15:41246708-41246899	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr15:41245056-41245753	MCF-7	breast:	n/a	n/a
36	CEBPB	chr15:41246703-41246902	IMR90	lung:	n/a	n/a
37	CEBPB	chr15:41245193-41245673	K562	blood:	n/a	n/a
38	CEBPB	chr15:41252041-41252080	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr15:41245003-41245771	IMR90	lung:	n/a	n/a
40	CEBPB	chr15:41253100-41253457	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr15:41245255-41245652	HepG2	liver:	n/a	n/a
42	CEBPB	chr15:41245331-41245619	HepG2	liver:	n/a	n/a
43	CEBPB	chr15:41246691-41246871	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr15:41244966-41245944	HCT-116	colon:	n/a	n/a
45	CEBPB	chr15:41244909-41245885	ECC-1	luminal epithelium:	n/a	n/a
46	CEBPB	chr15:41245226-41245715	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr15:41245198-41245684	A549	lung:	n/a	n/a
48	CEBPB	chr15:41244938-41245830	A549	lung:	n/a	n/a
49	CHD1	chr15:41245250-41245299	GM12878	blood:	n/a	n/a
50	CHD1	chr15:41245664-41246716	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41245649-41245699	HRPEpiC	eye:	n/a
2	chr15:41258337-41258387	NT2-D1	testis:	n/a
3	chr15:41245406-41245456	NT2-D1	testis:	n/a
4	chr15:41254675-41254725	HRPEpiC	eye:	n/a
5	chr15:41254710-41254760	GM12878	blood:	n/a
6	chr15:41245706-41245756	GM12878	blood:	n/a
7	chr15:41245649-41245699	AG09319	gingival:	n/a
8	chr15:41245706-41245756	CMK	blood:	n/a
9	chr15:41245527-41245577	GM12892	blood:	n/a
10	chr15:41245649-41245699	NHBE	bronchial:	n/a
11	chr15:41252147-41252197	HRE	kidney:	n/a
12	chr15:41247912-41247962	HEK293	kidney:	embryo
13	chr15:41258337-41258387	GM06990	blood:	n/a
14	chr15:41254710-41254760	SK-N-SH_RA	brain:	n/a
15	chr15:41247988-41248038	PFSK-1	brain:	n/a
16	chr15:41245418-41245468	PFSK-1	brain:	n/a
17	chr15:41248049-41248099	PANC-1	pancreas:	n/a
18	chr15:41245649-41245699	PANC-1	pancreas:	n/a
19	chr15:41245406-41245456	HRE	kidney:	n/a
20	chr15:41248049-41248099	NHDF-neo	bronchial:	n/a
21	chr15:41252147-41252197	Hepatocyte	liver:	n/a
22	chr15:41245510-41245560	NHBE	bronchial:	n/a
23	chr15:41245706-41245756	HIPEpiC	eye:	n/a
24	chr15:41245418-41245468	HNPCEpiC	eye:	n/a
25	chr15:41271499-41271549	MCF-7	breast:	n/a
26	chr15:41245649-41245699	Hepatocyte	liver:	n/a
27	chr15:41245597-41245647	NHBE	bronchial:	n/a
28	chr15:41276147-41276197	HCPEpiC	choroid plexus:	n/a
29	chr15:41245406-41245456	PFSK-1	brain:	n/a
30	chr15:41276147-41276197	SK-N-SH	brain:	n/a
31	chr15:41245554-41245604	HEEpiC	esophagus:	n/a
32	chr15:41254675-41254725	SK-N-SH_RA	brain:	n/a
33	chr15:41248049-41248099	GM06990	blood:	n/a
34	chr15:41258337-41258387	NHDF-neo	bronchial:	n/a
35	chr15:41247988-41248038	NHBE	bronchial:	n/a
36	chr15:41248049-41248099	SK-N-SH_RA	brain:	n/a
37	chr15:41254675-41254725	HRCEpiC	kidney:	n/a
38	chr15:41252147-41252197	BJ	skin:	n/a
39	chr15:41247988-41248038	NB4	blood:	n/a
40	chr15:41268170-41268220	T-47D	breast:	n/a
41	chr15:41275117-41275167	AG04450	lung:	fetal
42	chr15:41245406-41245456	ovcar-3	ovarian:	n/a
43	chr15:41245597-41245647	HEK293	kidney:	embryo
44	chr15:41245418-41245468	MCF10A-Er-Src	breast:	n/a
45	chr15:41245597-41245647	HL-60	blood:	n/a
46	chr15:41254675-41254725	GM12892	blood:	n/a
47	chr15:41258337-41258387	CMK	blood:	n/a
48	chr15:41252147-41252197	AG09319	gingival:	n/a
49	chr15:41254675-41254725	HNPCEpiC	eye:	n/a
50	chr15:41245706-41245756	PANC-1	pancreas:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41196325..41199038-chr15:41249965..41253557,4	K562	blood:
2	chr15:41221931..41225050-chr15:41249351..41252849,3	K562	blood:
3	chr15:41231932..41234904-chr15:41266157..41268211,2	K562	blood:
4	chr15:41244727..41245305-chr9:91933111..91933989,2	Hela-S3	cervix:
5	chr15:41220195..41223008-chr15:41259874..41261709,2	K562	blood:
6	chr15:41224639..41226841-chr15:41251663..41253494,2	MCF-7	breast:
7	chr15:41199759..41201940-chr15:41248954..41250742,2	K562	blood:
8	chr15:41245148..41245725-chr17:75277480..75278058,2	Hela-S3	cervix:
9	chr15:41245565..41247610-chr15:41522080..41523844,2	K562	blood:
10	chr15:41260659..41262903-chr15:41262940..41265797,2	K562	blood:
11	chr15:41195887..41198690-chr15:41257429..41259190,2	K562	blood:
12	chr15:41229339..41231182-chr15:41247878..41250460,2	MCF-7	breast:
13	chr15:41235426..41238056-chr15:41249028..41251261,4	MCF-7	breast:
14	chr15:41229330..41231343-chr15:41257972..41259697,2	MCF-7	breast:
15	chr15:41219573..41224863-chr15:41243808..41249661,11	MCF-7	breast:
16	chr15:41264586..41267497-chr15:41281523..41283917,2	MCF-7	breast:
17	chr15:41212940..41214641-chr15:41251110..41253337,2	K562	blood:
18	chr15:41220389..41222862-chr15:41256619..41258754,2	K562	blood:
19	chr15:41046641..41048842-chr15:41243931..41246219,2	K562	blood:
20	chr15:41221226..41223181-chr15:41249828..41251513,3	MCF-7	breast:
21	chr15:41272019..41273702-chr15:41273927..41276843,2	K562	blood:
22	chr15:41208534..41211234-chr15:41247874..41250474,2	K562	blood:
23	chr15:41231034..41235223-chr15:41248876..41252149,4	MCF-7	breast:
24	chr15:41243575..41247241-chr15:41275161..41277167,3	MCF-7	breast:
25	chr15:41251504..41254732-chr15:41263210..41265996,3	K562	blood:
26	chr15:41220857..41223569-chr15:41256208..41258931,3	MCF-7	breast:
27	chr15:41260659..41262903-chr15:41262940..41265797,2	K562	blood:
28	chr15:41251504..41254732-chr15:41263210..41265996,3	K562	blood:
29	chr15:41220084..41222525-chr15:41245007..41247668,2	MCF-7	breast:
30	chr15:41232946..41236246-chr15:41262141..41265286,3	MCF-7	breast:
31	chr15:41265403..41268929-chr15:41273449..41275807,3	MCF-7	breast:
32	chr15:41243575..41247241-chr15:41275161..41277167,3	MCF-7	breast:
33	chr15:41243576..41247065-chr15:41269319..41273291,3	MCF-7	breast:
34	chr15:41271609..41273813-chr15:41287467..41290099,2	K562	blood:
35	chr15:41232446..41235218-chr15:41255104..41257063,2	K562	blood:
36	chr15:41220311..41223112-chr15:41267021..41268787,2	MCF-7	breast:
37	chr15:41264244..41266968-chr15:41278240..41280821,2	MCF-7	breast:
38	chr15:41230059..41232086-chr15:41262058..41264861,2	MCF-7	breast:
39	chr15:41219948..41223850-chr15:41241031..41249080,13	K562	blood:
40	chr15:41196932..41200984-chr15:41244050..41248455,6	K562	blood:
41	chr15:41216845..41219017-chr15:41248901..41250858,2	K562	blood:
42	chr15:41244983..41245699-chr17:62222870..62223655,2	Hela-S3	cervix:
43	chr15:41195848..41199038-chr15:41251277..41253557,3	K562	blood:
44	chr15:41220599..41223039-chr15:41251392..41253902,3	MCF-7	breast:
45	chr15:41269511..41271032-chr15:41281628..41283628,2	K562	blood:
46	chr15:41232489..41235569-chr15:41253295..41255593,3	MCF-7	breast:
47	chr15:41271634..41273702-chr15:41273927..41275645,2	K562	blood:
48	chr15:41265160..41268430-chr15:41271742..41276727,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC1-1	chr15:41244582-41245400	XLOC_011224
2	lnc-INO80-1	chr15:41249233-41249579	NONHSAT041903

No data

Variant related genes	Relation type
CHAC1	TF binding region
ISCA1P4	TF binding region
INO80	TF binding region
CHAC1	CpG island
ISCA1P4	CpG island
INO80	CpG island
ENSG00000128908	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000187446	chromatin interactions
ENSG00000263718	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000128917	chromatin interactions
ENSG00000251161	chromatin interactions
ENSG00000137824	chromatin interactions
ENSG00000184640	chromatin interactions
ENSG00000178997	chromatin interactions
ENSG00000128965	chromatin interactions
ENSG00000199753	chromatin interactions
LUC7L2	miRNA target sites

Extended variants
information (count: 1777 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1777 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11632640	chr15:41245289-41245290	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11070311	chr15:41245329-41245330	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557383731	chr15:41245419-41245420	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs574093435	chr15:41245528-41245529	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs543099143	chr15:41245531-41245532	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs559911651	chr15:41245534-41245535	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs372106511	chr15:41245536-41245537	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs572114420	chr15:41245558-41245559	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs541207099	chr15:41245631-41245632	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs564171402	chr15:41245651-41245652	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs11557249	chr15:41245676-41245677	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs549813567	chr15:41245684-41245685	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs562894735	chr15:41245686-41245687	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs201335601	chr15:41245692-41245693	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs191156798	chr15:41245711-41245712	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs578183095	chr15:41245725-41245726	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs386783373	chr15:41245731-41245732	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs149913206	chr15:41245732-41245733	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs183857341	chr15:41245751-41245752	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs571789664	chr15:41245802-41245803	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs537709087	chr15:41245810-41245811	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs145906246	chr15:41245820-41245821	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs557691450	chr15:41245834-41245835	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs377062318	chr15:41245859-41245860	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs369404686	chr15:41245860-41245861	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs62002664	chr15:41245865-41245866	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs371639481	chr15:41245880-41245881	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs138308071	chr15:41245895-41245896	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs536663907	chr15:41245937-41245938	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs149193962	chr15:41245938-41245939	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs199604218	chr15:41245950-41245951	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs143317285	chr15:41245959-41245960	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs573282959	chr15:41245965-41245966	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs374661322	chr15:41245970-41245971	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs545520387	chr15:41245992-41245993	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs201882902	chr15:41246004-41246005	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs146412247	chr15:41246032-41246033	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs372023541	chr15:41246047-41246048	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs200942974	chr15:41246048-41246049	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs113688032	chr15:41246064-41246065	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs542193783	chr15:41246099-41246100	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs559133413	chr15:41246113-41246114	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs577689467	chr15:41246126-41246127	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs545056470	chr15:41246150-41246151	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs144833003	chr15:41246154-41246155	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs560732624	chr15:41246194-41246195	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs571766497	chr15:41246230-41246231	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs531036692	chr15:41246233-41246234	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs202061108	chr15:41246237-41246238	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs3214842	chr15:41246238-41246239	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1092 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41244200-41246200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:41244400-41245400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:41244400-41245400	Flanking Active TSS	Pancreas	Pancrea
4	chr15:41244400-41245400	Flanking Active TSS	HMEC	breast
5	chr15:41244400-41246200	Active TSS	A549	lung
6	chr15:41244400-41246600	Active TSS	Brain Angular Gyrus	brain
7	chr15:41244400-41246800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:41244400-41246800	Active TSS	Rectal Smooth Muscle	rectum
9	chr15:41244600-41245400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:41244600-41245600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:41244600-41246000	Enhancers	Fetal Brain Male	brain
12	chr15:41244600-41246000	Active TSS	Osteobl	bone
13	chr15:41244600-41246200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr15:41244600-41246200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr15:41244600-41246200	Active TSS	HSMM	muscle
16	chr15:41244600-41246200	Active TSS	NHLF	lung
17	chr15:41244600-41246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:41244600-41246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:41244600-41246400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:41244600-41246400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr15:41244600-41246400	Flanking Active TSS	Liver	Liver
22	chr15:41244600-41246400	Flanking Active TSS	Colonic Mucosa	Colon
23	chr15:41244600-41246600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:41244600-41246800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr15:41244600-41246800	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr15:41244600-41247200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:41244800-41245400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:41244800-41245400	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr15:41244800-41245400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr15:41244800-41245400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr15:41244800-41245400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr15:41244800-41245400	Flanking Active TSS	Thymus	Thymus
33	chr15:41244800-41246000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:41244800-41246000	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr15:41244800-41246000	Flanking Active TSS	Fetal Thymus	thymus
36	chr15:41244800-41246200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:41244800-41246200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:41244800-41246200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr15:41244800-41246200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:41244800-41246200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:41244800-41246200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:41244800-41246200	Active TSS	Psoas Muscle	Psoas
43	chr15:41244800-41246200	Active TSS	Small Intestine	intestine
44	chr15:41244800-41246400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:41244800-41246400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:41244800-41246400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr15:41244800-41246600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr15:41244800-41246600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:41244800-41246600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr15:41244800-41246600	Active TSS	Brain Substantia Nigra	brain

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