Variant report

Variant	esv3341618
Chromosome Location	chr15:73975424-73978272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:73975949-73976467	HepG2	liver:	n/a	n/a
2	ATF2	chr15:73976001-73976428	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr15:73976084-73976509	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr15:73976109-73976675	A549	lung:	n/a	chr15:73976485-73976498 chr15:73976501-73976510
5	BHLHE40	chr15:73976942-73976945	K562	blood:	n/a	n/a
6	BHLHE40	chr15:73975873-73976186	K562	blood:	n/a	n/a
7	BHLHE40	chr15:73975954-73976556	HepG2	liver:	n/a	n/a
8	BRCA1	chr15:73976304-73976504	Hela-S3	cervix:	n/a	n/a
9	CCNT2	chr15:73976669-73976961	K562	blood:	n/a	n/a
10	CEBPB	chr15:73976131-73976511	Hela-S3	cervix:	n/a	n/a
11	CEBPD	chr15:73976509-73976794	HepG2	liver:	n/a	n/a
12	CHD2	chr15:73975942-73977765	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr15:73975999-73976520	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr15:73976312-73976488	K562	blood:	n/a	n/a
15	CHD2	chr15:73976054-73976563	HepG2	liver:	n/a	n/a
16	CTBP2	chr15:73975901-73977620	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr15:73976120-73976270	MCF-7	breast:	n/a	n/a
18	CTCF	chr15:73976100-73976250	HFF-Myc	foreskin:	n/a	chr15:73976101-73976122 chr15:73976103-73976110
19	CTCF	chr15:73976040-73976190	NHDF-neo	bronchial:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
20	CTCF	chr15:73976050-73976177	LNCaP	prostate:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
21	CTCF	chr15:73976040-73976190	HCPEpiC	choroid plexus:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
22	CTCF	chr15:73976060-73976210	HUVEC	blood vessel:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
23	CTCF	chr15:73976060-73976210	K562	blood:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
24	CTCF	chr15:73975979-73976234	MCF-7	breast:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
25	CTCF	chr15:73976020-73976170	AG09319	gingival:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
26	CTCF	chr15:73975971-73976258	MCF-7	breast:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
27	CTCF	chr15:73975980-73976130	HRPEpiC	eye:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
28	CTCF	chr15:73976060-73976210	A549	lung:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
29	CTCF	chr15:73975980-73976130	GM06990	blood:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
30	CTCF	chr15:73976020-73976170	GM12865	blood:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
31	CTCF	chr15:73976080-73976230	HCT-116	colon:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
32	CTCF	chr15:73976052-73976165	GM13977	blood:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
33	CTCF	chr15:73976020-73976170	RPTEC	kidney:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
34	CTCF	chr15:73976040-73976190	AG04449	skin:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
35	CTCF	chr15:73976020-73976170	GM06990	blood:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
36	CTCF	chr15:73975873-73976274	H1-hESC	embryonic stem cell:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
37	CTCF	chr15:73975980-73976130	GM12878	blood:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
38	CTCF	chr15:73975900-73976050	HMEC	breast:	n/a	n/a
39	CTCF	chr15:73976097-73976102	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr15:73975827-73976275	K562	blood:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
41	CTCF	chr15:73975991-73976218	Gliobla	brain:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
42	CTCF	chr15:73975960-73976110	WI-38	lung:	n/a	chr15:73976103-73976110
43	CTCF	chr15:73976320-73976470	AG04449	skin:	n/a	n/a
44	CTCF	chr15:73976000-73976202	SK-N-SH_RA	brain:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
45	CTCF	chr15:73975997-73976217	NHEK	skin:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
46	CTCF	chr15:73976060-73976210	AG10803	skin:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
47	CTCF	chr15:73976000-73976150	HPF	lung:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
48	CTCF	chr15:73975982-73976232	MCF-7	breast:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
49	CTCF	chr15:73975800-73975950	NHEK	skin:	n/a	n/a
50	CTCF	chr15:73975970-73976221	Kidney_OC	kidney:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:73976389-73976439	AG09309	skin:	n/a
2	chr15:73976389-73976439	AG09309	skin:	n/a
3	chr15:73977283-73977333	ECC-1	luminal epithelium:	n/a
4	chr15:73976389-73976439	A549	lung:	n/a
5	chr15:73976389-73976439	GM12878	blood:	n/a
6	chr15:73976537-73976587	RPTEC	kidney:	n/a
7	chr15:73976229-73976279	HPAEpiC	pulmonary alveolar:	n/a
8	chr15:73977283-73977333	AG04450	lung:	fetal
9	chr15:73976679-73976729	PFSK-1	brain:	n/a
10	chr15:73977201-73977251	SKMC	muscle:	n/a
11	chr15:73977283-73977333	SKMC	muscle:	n/a
12	chr15:73976537-73976587	H1-hESC	embryonic stem cell:	embryo
13	chr15:73976229-73976279	AG09309	skin:	n/a
14	chr15:73976537-73976587	ovcar-3	ovarian:	n/a
15	chr15:73976389-73976439	HCT-116	colon:	n/a
16	chr15:73977201-73977251	SK-N-SH	brain:	n/a
17	chr15:73976229-73976279	HL-60	blood:	n/a
18	chr15:73976389-73976439	HAEpiC	amniotic membrane:	n/a
19	chr15:73976679-73976729	HCPEpiC	choroid plexus:	n/a
20	chr15:73976511-73976561	SK-N-SH	brain:	n/a
21	chr15:73976229-73976279	K562	blood:	n/a
22	chr15:73976679-73976729	LNCaP	prostate:	n/a
23	chr15:73976968-73977018	Caco-2	colon:	n/a
24	chr15:73976679-73976729	HCM	heart:	n/a
25	chr15:73976679-73976729	HUVEC	blood vessel:	n/a
26	chr15:73976560-73976610	PFSK-1	brain:	n/a
27	chr15:73976229-73976279	PrEC	prostate:	n/a
28	chr15:73976537-73976587	AG09319	gingival:	n/a
29	chr15:73976968-73977018	HPAEpiC	pulmonary alveolar:	n/a
30	chr15:73976560-73976610	RPTEC	kidney:	n/a
31	chr15:73976968-73977018	RPTEC	kidney:	n/a
32	chr15:73976511-73976561	SAEC	small airway:	n/a
33	chr15:73976229-73976279	BJ	skin:	n/a
34	chr15:73976537-73976587	HAEpiC	amniotic membrane:	n/a
35	chr15:73977283-73977333	NHBE	bronchial:	n/a
36	chr15:73976389-73976439	SK-N-SH_RA	brain:	n/a
37	chr15:73977201-73977251	NHBE	bronchial:	n/a
38	chr15:73977283-73977333	HUVEC	blood vessel:	n/a
39	chr15:73977283-73977333	IMR90	lung:	fetal
40	chr15:73976679-73976729	AoSMC	blood vessel:	n/a
41	chr15:73976679-73976729	AG09309	skin:	n/a
42	chr15:73977201-73977251	K562	blood:	n/a
43	chr15:73976560-73976610	HCT-116	colon:	n/a
44	chr15:73976537-73976587	ECC-1	luminal epithelium:	n/a
45	chr15:73976511-73976561	HepG2	liver:	n/a
46	chr15:73977283-73977333	MCF-7	breast:	n/a
47	chr15:73976537-73976587	NHBE	bronchial:	n/a
48	chr15:73977283-73977333	A549	lung:	n/a
49	chr15:73976968-73977018	HRPEpiC	eye:	n/a
50	chr15:73976511-73976561	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:73975048..73981150-chr15:73987719..73994346,13	MCF-7	breast:
2	chr15:73975489..73977527-chr15:73994222..73997098,2	MCF-7	breast:
3	chr11:125462293..125463031-chr15:73976142..73976842,2	HCT-116	colon:
4	chr15:73976691..73979215-chr15:74216849..74218653,2	MCF-7	breast:
5	chr15:73923214..73925755-chr15:73977792..73979713,2	K562	blood:
6	chr15:73921937..73932817-chr15:73973872..73983627,19	MCF-7	breast:
7	chr15:73923335..73928580-chr15:73974636..73980559,10	MCF-7	breast:
8	chr15:73976707..73977570-chr17:73266758..73267281,2	HCT-116	colon:
9	chr15:73976209..73977099-chr5:179050114..179050702,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf60-1	chr15:73976555-73976801	NONHSAT047151

Variant related genes	Relation type
CD276	TF binding region
CD276	CpG island
ENSG00000169045	chromatin interactions
ENSG00000261801	chromatin interactions
ENSG00000156642	chromatin interactions
ENSG00000103855	chromatin interactions
ENSG00000129038	chromatin interactions
ENSG00000134910	chromatin interactions
ENSG00000125457	chromatin interactions
ENSG00000254671	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371940147	chr15:73975424-73975425	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs59468208	chr15:73975463-73975464	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs202010335	chr15:73975471-73975472	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs397809250	chr15:73975477-73975478	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs547968597	chr15:73975515-73975516	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566184323	chr15:73975594-73975595	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs371456518	chr15:73975665-73975666	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs374734450	chr15:73975672-73975673	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs540815374	chr15:73975708-73975709	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs189890463	chr15:73975802-73975803	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs111679668	chr15:73975804-73975805	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs537054643	chr15:73975875-73975876	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs150237087	chr15:73975878-73975879	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs375586480	chr15:73975884-73975885	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs28521304	chr15:73975912-73975913	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs558735386	chr15:73975982-73975983	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs570920002	chr15:73976098-73976099	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs534845848	chr15:73976168-73976169	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs369529987	chr15:73976181-73976182	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs74026247	chr15:73976252-73976253	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs536523015	chr15:73976260-73976261	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs368183381	chr15:73976331-73976332	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs200819633	chr15:73976340-73976341	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs144414408	chr15:73976341-73976342	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs192679813	chr15:73976434-73976435	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs576066682	chr15:73976435-73976436	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs543448774	chr15:73976490-73976491	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs370997437	chr15:73976492-73976493	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs564776799	chr15:73976550-73976551	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs527672813	chr15:73976621-73976622	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
31	rs58176469	chr15:73976917-73976918	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs397975953	chr15:73976920-73976921	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs576864329	chr15:73977047-73977048	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs540794958	chr15:73977070-73977071	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs559867427	chr15:73977078-73977079	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs530245003	chr15:73977112-73977113	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs548429923	chr15:73977117-73977118	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs563642131	chr15:73977150-73977151	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs375107218	chr15:73977159-73977160	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs368055899	chr15:73977164-73977165	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs11631560	chr15:73977234-73977235	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs531156186	chr15:73977239-73977240	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs8032531	chr15:73977271-73977272	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570790416	chr15:73977294-73977295	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs535098031	chr15:73977309-73977310	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs546802069	chr15:73977321-73977322	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs58102870	chr15:73977332-73977333	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs8032727	chr15:73977336-73977337	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536460113	chr15:73977340-73977341	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs554860253	chr15:73977398-73977399	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Lung cancer	18438408	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
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	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
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73970000-73976000	Weak transcription	Pancreas	Pancrea
2	chr15:73970000-73976000	Weak transcription	Right Atrium	heart
3	chr15:73971800-73976000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:73972000-73977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:73972200-73976200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:73972400-73976000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:73973600-73975800	Enhancers	Osteobl	bone
8	chr15:73973600-73976000	Enhancers	Placenta	Placenta
9	chr15:73973800-73975600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:73973800-73975800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:73973800-73975800	Enhancers	Hela-S3	cervix
12	chr15:73973800-73976000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr15:73974000-73975600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:73974000-73975600	Weak transcription	Fetal Brain Female	brain
15	chr15:73974000-73975800	Weak transcription	Spleen	Spleen
16	chr15:73974000-73976000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:73974000-73976000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:73974200-73976000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:73974200-73976000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr15:73974200-73976000	Enhancers	NHDF-Ad	bronchial
21	chr15:73974200-73976200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr15:73974400-73976000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:73974400-73976200	Enhancers	HSMM	muscle
24	chr15:73974400-73976200	Enhancers	HSMMtube	muscle
25	chr15:73974600-73975600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr15:73974600-73975800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:73974600-73975800	Bivalent Enhancer	HepG2	liver
28	chr15:73974600-73975800	Weak transcription	HMEC	breast
29	chr15:73974600-73976000	Enhancers	Fetal Muscle Leg	muscle
30	chr15:73974600-73976000	Weak transcription	NHEK	skin
31	chr15:73974800-73975800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr15:73974800-73975800	Enhancers	Adipose Nuclei	Adipose
33	chr15:73974800-73976000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:73974800-73976000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:73974800-73976000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:73974800-73976000	Enhancers	Fetal Muscle Trunk	muscle
37	chr15:73974800-73976000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr15:73975000-73975800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:73975000-73975800	Weak transcription	Right Ventricle	heart
40	chr15:73975000-73976000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:73975000-73976000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:73975000-73976200	Weak transcription	Left Ventricle	heart
43	chr15:73975200-73975600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:73975200-73975800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:73975200-73975800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr15:73975200-73976000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:73975400-73975800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:73975400-73975800	Weak transcription	Brain Angular Gyrus	brain
49	chr15:73975600-73975800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr15:73975600-73975800	Enhancers	Brain Hippocampus Middle	brain

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