Variant report

Variant	nsv1612
Chromosome Location	chr15:75247725-75281284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1301)
CpG islands
(count:1221)
Chromatin interactive
region (count:84)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1301 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:75280438-75280639	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:75280478-75280670	K562	blood:	n/a	n/a
3	ATF3	chr15:75248482-75248780	K562	blood:	n/a	n/a
4	ATF3	chr15:75280444-75280704	K562	blood:	n/a	n/a
5	ATF3	chr15:75248500-75248870	GM12878	blood:	n/a	n/a
6	ATF3	chr15:75248569-75248751	GM12878	blood:	n/a	n/a
7	ATF3	chr15:75248490-75248769	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr15:75248135-75248137	K562	blood:	n/a	n/a
9	BACH1	chr15:75248475-75250002	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr15:75248617-75248803	K562	blood:	n/a	n/a
11	BACH1	chr15:75254735-75254870	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr15:75269983-75270283	GM12878	blood:	n/a	n/a
13	BATF	chr15:75276257-75276530	GM12878	blood:	n/a	n/a
14	BCL3	chr15:75248395-75248946	A549	lung:	n/a	n/a
15	BCL3	chr15:75249012-75250156	A549	lung:	n/a	n/a
16	BCLAF1	chr15:75248482-75248855	GM12878	blood:	n/a	n/a
17	BCLAF1	chr15:75248437-75248944	K562	blood:	n/a	n/a
18	BHLHE40	chr15:75248119-75249286	K562	blood:	n/a	n/a
19	BHLHE40	chr15:75248484-75248862	A549	lung:	n/a	n/a
20	BHLHE40	chr15:75248475-75249127	GM12878	blood:	n/a	n/a
21	BHLHE40	chr15:75280417-75280662	K562	blood:	n/a	n/a
22	BRCA1	chr15:75276316-75276480	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr15:75248359-75248795	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr15:75249783-75249925	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr15:75249003-75249581	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr15:75248472-75248873	K562	blood:	n/a	n/a
27	CBX3	chr15:75248294-75248985	K562	blood:	n/a	n/a
28	CBX3	chr15:75249558-75249901	K562	blood:	n/a	n/a
29	CBX3	chr15:75280263-75280702	K562	blood:	n/a	n/a
30	CCNT2	chr15:75248452-75249685	K562	blood:	n/a	n/a
31	CEBPB	chr15:75254487-75254632	HepG2	liver:	n/a	chr15:75254559-75254570
32	CEBPB	chr15:75274665-75274856	Hela-S3	cervix:	n/a	chr15:75274670-75274683
33	CEBPB	chr15:75259139-75259377	K562	blood:	n/a	n/a
34	CEBPB	chr15:75259134-75259353	K562	blood:	n/a	n/a
35	CEBPB	chr15:75249273-75250162	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr15:75275951-75276575	Hela-S3	cervix:	n/a	chr15:75276102-75276111 chr15:75276100-75276111
37	CEBPB	chr15:75248646-75248752	K562	blood:	n/a	n/a
38	CEBPB	chr15:75259171-75259397	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr15:75248558-75248907	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr15:75254504-75254619	HepG2	liver:	n/a	chr15:75254559-75254570
41	CEBPB	chr15:75274610-75274899	A549	lung:	n/a	chr15:75274670-75274683
42	CHD1	chr15:75248477-75248676	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr15:75248188-75248196	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr15:75248466-75249032	K562	blood:	n/a	n/a
45	CHD2	chr15:75280459-75280630	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr15:75248511-75248806	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr15:75248456-75249959	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr15:75276323-75276494	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr15:75249156-75249594	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr15:75248410-75248948	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:75249444-75249494	PFSK-1	brain:	n/a
2	chr15:75249444-75249494	PFSK-1	brain:	n/a
3	chr15:75249914-75249964	HepG2	liver:	n/a
4	chr15:75251581-75251631	Caco-2	colon:	n/a
5	chr15:75249890-75249940	HepG2	liver:	n/a
6	chr15:75249203-75249253	HCF	heart:	n/a
7	chr15:75249444-75249494	BE2_C	brain:	n/a
8	chr15:75248768-75248818	SK-N-SH_RA	brain:	n/a
9	chr15:75249807-75249857	HRPEpiC	eye:	n/a
10	chr15:75248768-75248818	Jurkat	blood:	n/a
11	chr15:75249444-75249494	GM12892	blood:	n/a
12	chr15:75249876-75249926	PFSK-1	brain:	n/a
13	chr15:75249876-75249926	HCF	heart:	n/a
14	chr15:75249807-75249857	AG04450	lung:	fetal
15	chr15:75248496-75248546	HCT-116	colon:	n/a
16	chr15:75252565-75252615	ovcar-3	ovarian:	n/a
17	chr15:75251581-75251631	BE2_C	brain:	n/a
18	chr15:75249807-75249857	SKMC	muscle:	n/a
19	chr15:75249380-75249430	NHBE	bronchial:	n/a
20	chr15:75249444-75249494	MCF10A-Er-Src	breast:	n/a
21	chr15:75249816-75249866	T-47D	breast:	n/a
22	chr15:75249380-75249430	Hepatocyte	liver:	n/a
23	chr15:75255681-75255731	AG04449	skin:	fetal
24	chr15:75249203-75249253	HEK293	kidney:	embryo
25	chr15:75249787-75249837	HEK293	kidney:	embryo
26	chr15:75249816-75249866	U87	brain:	n/a
27	chr15:75250560-75250610	ovcar-3	ovarian:	n/a
28	chr15:75251581-75251631	GM12892	blood:	n/a
29	chr15:75249203-75249253	GM12892	blood:	n/a
30	chr15:75248086-75248136	NT2-D1	testis:	n/a
31	chr15:75249890-75249940	HRCEpiC	kidney:	n/a
32	chr15:75248496-75248546	HepG2	liver:	n/a
33	chr15:75249890-75249940	MCF-7	breast:	n/a
34	chr15:75251491-75251541	HCM	heart:	n/a
35	chr15:75248768-75248818	HRPEpiC	eye:	n/a
36	chr15:75248086-75248136	SKMC	muscle:	n/a
37	chr15:75251733-75251783	GM12892	blood:	n/a
38	chr15:75252565-75252615	GM06990	blood:	n/a
39	chr15:75251491-75251541	HAEpiC	amniotic membrane:	n/a
40	chr15:75249816-75249866	NHBE	bronchial:	n/a
41	chr15:75250560-75250610	PANC-1	pancreas:	n/a
42	chr15:75248768-75248818	MCF-7	breast:	n/a
43	chr15:75252565-75252615	U87	brain:	n/a
44	chr15:75255681-75255731	SK-N-SH_RA	brain:	n/a
45	chr15:75249203-75249253	HL-60	blood:	n/a
46	chr15:75249890-75249940	HEK293	kidney:	embryo
47	chr15:75248496-75248546	NB4	blood:	n/a
48	chr15:75249787-75249837	Hepatocyte	liver:	n/a
49	chr15:75248496-75248546	HEEpiC	esophagus:	n/a
50	chr15:75252565-75252615	HCF	heart:	n/a

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:11967935..11968914-chr15:75249539..75250130,2	Hela-S3	cervix:
2	chr14:50234573..50235413-chr15:75248615..75249128,2	Hela-S3	cervix:
3	chr15:75248174..75249163-chr6:86388387..86389171,2	Hela-S3	cervix:
4	chr15:75252668..75254763-chr15:75257442..75260198,2	K562	blood:
5	chr15:75252668..75254763-chr15:75257442..75260198,2	K562	blood:
6	chr15:75246752..75249656-chr15:75313121..75316891,3	K562	blood:
7	chr15:75250762..75251638-chr22:50246556..50247418,2	Hela-S3	cervix:
8	chr15:75182085..75184679-chr15:75247604..75250598,2	MCF-7	breast:
9	chr15:75274950..75276613-chr15:75287594..75290045,3	K562	blood:
10	chr15:75072881..75075069-chr15:75249092..75251017,2	K562	blood:
11	chr15:75227438..75230244-chr15:75276379..75279123,2	MCF-7	breast:
12	chr15:75197919..75201119-chr15:75247045..75249740,3	K562	blood:
13	chr15:75249528..75251223-chr15:75287946..75289828,2	K562	blood:
14	chr15:75275080..75277543-chr15:75287594..75290421,2	K562	blood:
15	chr15:75076309..75078257-chr15:75245859..75248166,2	K562	blood:
16	chr15:75063133..75064034-chr15:75280031..75281063,7	MCF-7	breast:
17	chr15:75250701..75253480-chr15:75254260..75256998,2	K562	blood:
18	chr15:75226056..75232063-chr15:75248745..75252832,9	MCF-7	breast:
19	chr15:75248236..75249066-chr15:75280065..75280985,3	MCF-7	breast:
20	chr10:70480816..70481772-chr15:75249232..75249785,2	Hela-S3	cervix:
21	chr15:75194037..75196796-chr15:75249908..75252544,2	K562	blood:
22	chr15:75248947..75249801-chr19:11491683..11492566,2	Hela-S3	cervix:
23	chr15:38544473..38545101-chr15:75248720..75249565,2	Hela-S3	cervix:
24	chr15:75274624..75277019-chr15:75280477..75282648,3	MCF-7	breast:
25	chr15:75246992..75249290-chr15:75273200..75275582,2	K562	blood:
26	chr15:75247055..75248613-chr15:75284445..75287146,2	K562	blood:
27	chr15:75250875..75251506-chr3:149375277..149375820,2	Hela-S3	cervix:
28	chr15:75246242..75248692-chr15:75492051..75494718,2	K562	blood:
29	chr15:75246342..75249068-chr15:75626976..75630362,3	K562	blood:
30	chr15:75250034..75252437-chr15:75257925..75259887,2	K562	blood:
31	chr15:75248787..75249569-chr5:68389697..68390264,2	Hela-S3	cervix:
32	chr15:75245998..75247980-chr15:75288102..75290194,2	MCF-7	breast:
33	chr15:75248806..75249569-chr3:141456730..141457559,2	Hela-S3	cervix:
34	chr15:75129762..75131472-chr15:75249225..75252165,2	K562	blood:
35	chr15:75164206..75166633-chr15:75265227..75267613,2	MCF-7	breast:
36	chr15:75271593..75273347-chr15:75286990..75289602,2	MCF-7	breast:
37	chr15:75249439..75250408-chr15:75315837..75316367,2	Hela-S3	cervix:
38	chr15:75248607..75249544-chr3:183853080..183853960,2	Hela-S3	cervix:
39	chr15:75107962..75109830-chr15:75247955..75249471,2	K562	blood:
40	chr15:75253764..75255399-chr15:75314587..75316252,2	MCF-7	breast:
41	chr1:162467263..162468203-chr15:75248774..75249567,2	Hela-S3	cervix:
42	chr15:75193631..75194372-chr15:75279911..75280528,2	MCF-7	breast:
43	chr1:78148330..78149194-chr15:75249209..75250004,2	Hela-S3	cervix:
44	chr15:75247875..75248635-chr5:271125..272052,2	Hela-S3	cervix:
45	chr15:75248197..75251380-chr15:75494107..75498676,4	MCF-7	breast:
46	chr14:81687022..81687670-chr15:75248682..75249196,2	Hela-S3	cervix:
47	chr11:61734252..61735028-chr15:75248615..75249148,2	Hela-S3	cervix:
48	chr15:75246590..75249281-chr15:75285572..75288569,4	MCF-7	breast:
49	chr15:75247469..75252493-chr15:75314645..75318771,7	MCF-7	breast:
50	chr15:75249281..75249930-chr17:36861616..36862123,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPP25-1	chr15:75268581-75268914	NONHSAT047282

No data

Variant related genes	Relation type
ENSG00000261813	TF binding region
RPP25	TF binding region
SCAMP5	TF binding region
ENSG00000199580	TF binding region
ENSG00000261813	CpG island
RPP25	CpG island
SCAMP5	CpG island
ENSG00000199580	CpG island
ENSG00000248925	chromatin interactions
ENSG00000178741	chromatin interactions
ENSG00000178761	chromatin interactions
ENSG00000169714	chromatin interactions
ENSG00000127528	chromatin interactions
ENSG00000167173	chromatin interactions
ENSG00000171574	chromatin interactions
ENSG00000167996	chromatin interactions
ENSG00000198794	chromatin interactions
ENSG00000261813	chromatin interactions
ENSG00000138621	chromatin interactions
ENSG00000036549	chromatin interactions
ENSG00000145740	chromatin interactions
ENSG00000204389	chromatin interactions
ENSG00000018408	chromatin interactions
ENSG00000060339	chromatin interactions
ENSG00000072571	chromatin interactions
ENSG00000178718	chromatin interactions
ENSG00000178802	chromatin interactions
ENSG00000198824	chromatin interactions
ENSG00000203875	chromatin interactions
ENSG00000249915	chromatin interactions
ENSG00000166068	chromatin interactions
ENSG00000152332	chromatin interactions
ENSG00000145191	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000260919	chromatin interactions
ENSG00000267275	chromatin interactions
ENSG00000140474	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000215021	chromatin interactions
ENSG00000213578	chromatin interactions
ENSG00000165516	chromatin interactions
ENSG00000199580	chromatin interactions
ENSG00000106263	chromatin interactions
ENSG00000260483	chromatin interactions
ENSG00000108292	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000103653	chromatin interactions
ENSG00000140365	chromatin interactions
ENSG00000114125	chromatin interactions
ENSG00000261606	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000179335	chromatin interactions
ENSG00000140497	chromatin interactions
ENSG00000187266	chromatin interactions

Extended variants
information (count: 1212 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1212 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11540266	chr15:75247755-75247756	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs566342380	chr15:75247800-75247801	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs140128898	chr15:75247857-75247858	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs548473738	chr15:75247873-75247874	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs373615227	chr15:75247877-75247878	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs185880647	chr15:75247894-75247895	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs570270643	chr15:75247916-75247917	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs537143969	chr15:75247987-75247988	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs552206383	chr15:75247989-75247990	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs536779041	chr15:75247997-75247998	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs373431100	chr15:75248033-75248034	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs570621253	chr15:75248077-75248078	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs143802990	chr15:75248121-75248122	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs552967980	chr15:75248139-75248140	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
15	rs191570961	chr15:75248148-75248149	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs572223720	chr15:75248179-75248180	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs536580332	chr15:75248190-75248191	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs554461275	chr15:75248212-75248213	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs539573340	chr15:75248225-75248226	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs372778400	chr15:75248282-75248283	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs368732506	chr15:75248285-75248286	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs375246945	chr15:75248289-75248290	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs543258006	chr15:75248296-75248297	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs201692379	chr15:75248301-75248302	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs373978443	chr15:75248309-75248310	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
26	rs376852498	chr15:75248319-75248320	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs202065793	chr15:75248320-75248321	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs374892225	chr15:75248321-75248322	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
29	rs577030667	chr15:75248355-75248356	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
30	rs145309524	chr15:75248357-75248358	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs559419935	chr15:75248364-75248365	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs530314566	chr15:75248379-75248380	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs377390980	chr15:75248392-75248393	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs370743236	chr15:75248404-75248405	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs187308597	chr15:75248443-75248444	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs202021794	chr15:75248448-75248449	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs192149396	chr15:75248459-75248460	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs375199366	chr15:75248464-75248465	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs377664769	chr15:75248466-75248467	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs377673698	chr15:75248485-75248486	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs570580762	chr15:75248506-75248507	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs370662533	chr15:75248519-75248520	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs183868237	chr15:75248559-75248560	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
44	rs368818408	chr15:75248565-75248566	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
45	rs201617577	chr15:75248595-75248596	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs367647922	chr15:75248600-75248601	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs536155288	chr15:75248626-75248627	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
48	rs554804104	chr15:75248724-75248725	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
49	rs371664316	chr15:75248771-75248772	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
50	rs576270779	chr15:75248772-75248773	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:975 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75242800-75248000	Weak transcription	Liver	Liver
2	chr15:75243000-75247800	Weak transcription	Brain Anterior Caudate	brain
3	chr15:75243000-75248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:75243000-75248200	Weak transcription	HMEC	breast
5	chr15:75243200-75248000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:75246400-75247800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:75246400-75247800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:75246400-75247800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:75246400-75247800	Enhancers	Brain Hippocampus Middle	brain
10	chr15:75246400-75247800	Enhancers	NHDF-Ad	bronchial
11	chr15:75246400-75248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:75246400-75248000	Enhancers	Gastric	stomach
13	chr15:75246400-75248000	Enhancers	Spleen	Spleen
14	chr15:75246400-75248200	Enhancers	Fetal Heart	heart
15	chr15:75246400-75248200	Enhancers	Lung	lung
16	chr15:75246400-75248400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:75246400-75249000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:75246600-75248000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:75246600-75248000	Enhancers	Pancreas	Pancrea
20	chr15:75246600-75248000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr15:75246600-75248000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr15:75246600-75248000	Enhancers	NH-A	brain
23	chr15:75246600-75248200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr15:75246600-75248200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr15:75246600-75248200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr15:75246600-75248400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr15:75246600-75248400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr15:75246600-75248400	Enhancers	Small Intestine	intestine
29	chr15:75246600-75248600	Enhancers	Primary hematopoietic stem cells	blood
30	chr15:75246600-75248600	Enhancers	Stomach Mucosa	stomach
31	chr15:75246600-75248800	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr15:75246600-75249000	Flanking Active TSS	Colonic Mucosa	Colon
33	chr15:75246800-75247800	Flanking Active TSS	A549	lung
34	chr15:75246800-75248000	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr15:75246800-75248800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr15:75246800-75251000	Active TSS	Ovary	ovary
37	chr15:75246800-75251800	Flanking Active TSS	HUVEC	blood vessel
38	chr15:75247000-75247800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr15:75247000-75247800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:75247000-75247800	Bivalent Enhancer	Fetal Stomach	stomach
41	chr15:75247000-75247800	Enhancers	GM12878-XiMat	blood
42	chr15:75247000-75248000	Enhancers	Primary T cells from cord blood	blood
43	chr15:75247000-75248000	Bivalent Enhancer	Colon Smooth Muscle	Colon
44	chr15:75247000-75248200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr15:75247000-75248200	Enhancers	Brain Substantia Nigra	brain
46	chr15:75247000-75248400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:75247000-75248800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr15:75247000-75249600	Bivalent/Poised TSS	Fetal Brain Female	brain
49	chr15:75247200-75247800	Active TSS	Fetal Kidney	kidney
50	chr15:75247200-75247800	Bivalent Enhancer	Fetal Muscle Leg	muscle

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