Variant report

Variant	esv3450392
Chromosome Location	chr15:45479060-45481133
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	ATF2	chr15:45480522-45481055	GM12878	blood:	n/a	n/a
2	ATF2	chr15:45480577-45481067	GM12878	blood:	n/a	n/a
3	BACH1	chr15:45480450-45480957	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr15:45480673-45480964	GM12878	blood:	n/a	n/a
5	BCL11A	chr15:45480662-45480952	GM12878	blood:	n/a	n/a
6	BCL11A	chr15:45480592-45481056	GM12878	blood:	n/a	n/a
7	BHLHE40	chr15:45480313-45481041	GM12878	blood:	n/a	n/a
8	BHLHE40	chr15:45480306-45480528	K562	blood:	n/a	n/a
9	BRCA1	chr15:45480820-45480823	GM12878	blood:	n/a	n/a
10	CEBPD	chr15:45479846-45480498	HepG2	liver:	n/a	n/a
11	CHD1	chr15:45480372-45480803	GM12878	blood:	n/a	n/a
12	CHD1	chr15:45479999-45480005	GM12878	blood:	n/a	n/a
13	CHD2	chr15:45480284-45480454	K562	blood:	n/a	n/a
14	CHD2	chr15:45480088-45481036	GM12878	blood:	n/a	chr15:45480242-45480252 chr15:45480231-45480241
15	CHD2	chr15:45479127-45479427	HepG2	liver:	n/a	n/a
16	CHD2	chr15:45478921-45479481	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr15:45479840-45479990	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr15:45479660-45479810	GM12870	blood:	n/a	n/a
19	CTCF	chr15:45480500-45480650	AG04449	skin:	n/a	n/a
20	CTCF	chr15:45479780-45479930	AG04449	skin:	n/a	n/a
21	CTCF	chr15:45479860-45480010	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr15:45479800-45479950	GM12871	blood:	n/a	n/a
23	CTCF	chr15:45479760-45479910	GM12869	blood:	n/a	n/a
24	CTCF	chr15:45479760-45479910	GM12868	blood:	n/a	n/a
25	CTCF	chr15:45479720-45479870	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr15:45479831-45479870	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr15:45479760-45479910	GM12867	blood:	n/a	n/a
28	CTCF	chr15:45479680-45479830	BJ	skin:	n/a	n/a
29	CUX1	chr15:45480537-45480971	GM12878	blood:	n/a	n/a
30	E2F6	chr15:45479996-45480169	K562	blood:	n/a	chr15:45480018-45480028
31	E2F6	chr15:45478617-45479396	H1-hESC	embryonic stem cell:	n/a	n/a
32	E2F6	chr15:45480691-45480963	K562	blood:	n/a	n/a
33	EBF1	chr15:45480510-45480955	GM12878	blood:	n/a	chr15:45480777-45480787 chr15:45480777-45480788
34	EBF1	chr15:45480376-45481102	GM12878	blood:	n/a	chr15:45480777-45480787 chr15:45480777-45480788
35	EBF1	chr15:45480537-45481035	GM12878	blood:	n/a	chr15:45480777-45480787 chr15:45480777-45480788
36	EGR1	chr15:45480696-45480962	GM12878	blood:	n/a	chr15:45480854-45480868 chr15:45480915-45480924 chr15:45480911-45480920
37	EGR1	chr15:45479644-45480173	K562	blood:	n/a	chr15:45479955-45479969 chr15:45480022-45480032 chr15:45480021-45480031
38	EGR1	chr15:45480680-45480920	GM12878	blood:	n/a	chr15:45480854-45480868 chr15:45480911-45480920
39	EGR1	chr15:45479596-45480191	K562	blood:	n/a	chr15:45479955-45479969 chr15:45480022-45480032 chr15:45480021-45480031
40	EGR1	chr15:45480622-45480953	K562	blood:	n/a	chr15:45480854-45480868 chr15:45480915-45480924 chr15:45480911-45480920
41	EGR1	chr15:45480008-45480189	GM12878	blood:	n/a	chr15:45480022-45480032 chr15:45480021-45480031
42	EGR1	chr15:45479617-45480332	GM12878	blood:	n/a	chr15:45480235-45480250 chr15:45480236-45480249 chr15:45479955-45479969 chr15:45480241-45480251 chr15:45480238-45480248 chr15:45480236-45480249 chr15:45480022-45480032 chr15:45480021-45480031
43	EGR1	chr15:45480662-45480955	GM12878	blood:	n/a	chr15:45480854-45480868 chr15:45480915-45480924 chr15:45480911-45480920
44	ELK1	chr15:45480389-45481026	GM12878	blood:	n/a	n/a
45	EP300	chr15:45480599-45481088	GM12878	blood:	n/a	n/a
46	EP300	chr15:45479237-45479445	HepG2	liver:	n/a	n/a
47	EP300	chr15:45480574-45481078	GM12878	blood:	n/a	n/a
48	EP300	chr15:45480639-45481073	GM12878	blood:	n/a	n/a
49	EP300	chr15:45480529-45481064	GM12878	blood:	n/a	n/a
50	FOXM1	chr15:45480508-45481108	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45480185-45480235	NT2-D1	testis:	n/a
2	chr15:45480917-45480967	NB4	blood:	n/a
3	chr15:45480168-45480218	GM19239	blood:	n/a
4	chr15:45479977-45480027	ProgFib	skin:	n/a
5	chr15:45479462-45479512	GM12891	blood:	n/a
6	chr15:45480429-45480479	ProgFib	skin:	n/a
7	chr15:45479462-45479512	GM12892	blood:	n/a
8	chr15:45479462-45479512	Hela-S3	cervix:	n/a
9	chr15:45479755-45479805	AG10803	skin:	n/a
10	chr15:45480196-45480246	SK-N-SH	brain:	n/a
11	chr15:45479462-45479512	HMEC	breast:	n/a
12	chr15:45480788-45480838	NH-A	brain:	n/a
13	chr15:45479462-45479512	NHDF-neo	bronchial:	n/a
14	chr15:45480917-45480967	GM19239	blood:	n/a
15	chr15:45480917-45480967	AG04449	skin:	fetal
16	chr15:45480168-45480218	AG04450	lung:	fetal
17	chr15:45479977-45480027	HL-60	blood:	n/a
18	chr15:45480917-45480967	ProgFib	skin:	n/a
19	chr15:45479462-45479512	AG10803	skin:	n/a
20	chr15:45479642-45479692	NT2-D1	testis:	n/a
21	chr15:45479642-45479692	HMEC	breast:	n/a
22	chr15:45480168-45480218	HCPEpiC	choroid plexus:	n/a
23	chr15:45480185-45480235	HMEC	breast:	n/a
24	chr15:45480788-45480838	ECC-1	luminal epithelium:	n/a
25	chr15:45479462-45479512	AoSMC	blood vessel:	n/a
26	chr15:45479642-45479692	BJ	skin:	n/a
27	chr15:45479755-45479805	BJ	skin:	n/a
28	chr15:45480196-45480246	AG09309	skin:	n/a
29	chr15:45479977-45480027	PANC-1	pancreas:	n/a
30	chr15:45480196-45480246	HAEpiC	amniotic membrane:	n/a
31	chr15:45479462-45479512	SAEC	small airway:	n/a
32	chr15:45480185-45480235	ECC-1	luminal epithelium:	n/a
33	chr15:45480917-45480967	NHDF-neo	bronchial:	n/a
34	chr15:45480917-45480967	MCF-7	breast:	n/a
35	chr15:45480917-45480967	PFSK-1	brain:	n/a
36	chr15:45480788-45480838	HPAEpiC	pulmonary alveolar:	n/a
37	chr15:45480185-45480235	ovcar-3	ovarian:	n/a
38	chr15:45480168-45480218	HCT-116	colon:	n/a
39	chr15:45479462-45479512	HAEpiC	amniotic membrane:	n/a
40	chr15:45479462-45479512	GM12878	blood:	n/a
41	chr15:45479642-45479692	PrEC	prostate:	n/a
42	chr15:45479977-45480027	HPAEpiC	pulmonary alveolar:	n/a
43	chr15:45480917-45480967	HEK293	kidney:	embryo
44	chr15:45479977-45480027	HIPEpiC	eye:	n/a
45	chr15:45480917-45480967	K562	blood:	n/a
46	chr15:45479977-45480027	MCF-7	breast:	n/a
47	chr15:45479755-45479805	GM19239	blood:	n/a
48	chr15:45480168-45480218	AG04449	skin:	fetal
49	chr15:45480917-45480967	Caco-2	colon:	n/a
50	chr15:45479462-45479512	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45465443..45468186-chr15:45479581..45482219,2	MCF-7	breast:
2	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
3	chr15:45457736..45460170-chr15:45478587..45480947,2	MCF-7	breast:
4	chr15:45471595..45473672-chr15:45478332..45480462,2	MCF-7	breast:
5	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
6	chr15:45465361..45468029-chr15:45478692..45480743,2	MCF-7	breast:
7	chr15:45474753..45476915-chr15:45477928..45479578,2	MCF-7	breast:
8	chr15:45477456..45480320-chr15:45491100..45493481,2	MCF-7	breast:
9	chr15:45464668..45467281-chr15:45477714..45479302,2	K562	blood:
10	chr15:45461602..45463661-chr15:45476012..45479858,4	K562	blood:
11	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
12	chr15:45478077..45482452-chr15:45491020..45494377,5	MCF-7	breast:

Variant related genes	Relation type
SHF	TF binding region
SHF	CpG island
ENSG00000259519	chromatin interactions
ENSG00000260035	chromatin interactions
ENSG00000138606	chromatin interactions
ENSG00000259932	chromatin interactions
ENSG00000259539	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573862899	chr15:45479071-45479072	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs182206888	chr15:45479112-45479113	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs368230384	chr15:45479115-45479116	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs533561735	chr15:45479168-45479169	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs553327745	chr15:45479213-45479214	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs186093229	chr15:45479248-45479249	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs539146246	chr15:45479252-45479253	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs147774375	chr15:45479285-45479286	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs141088471	chr15:45479305-45479306	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs371907779	chr15:45479318-45479319	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs376526674	chr15:45479322-45479323	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs530944041	chr15:45479325-45479326	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs147016040	chr15:45479332-45479333	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs1706823	chr15:45479351-45479352	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115379967	chr15:45479396-45479397	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs532699214	chr15:45479398-45479399	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs546323178	chr15:45479486-45479487	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs562798045	chr15:45479514-45479515	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs373485756	chr15:45479523-45479524	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs531546345	chr15:45479535-45479536	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs548050950	chr15:45479556-45479557	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs568369952	chr15:45479567-45479568	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs374728758	chr15:45479600-45479601	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs527574002	chr15:45479625-45479626	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs541641952	chr15:45479766-45479767	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs547038377	chr15:45479787-45479788	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs570119413	chr15:45480036-45480037	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs192008945	chr15:45480047-45480048	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs183555490	chr15:45480314-45480315	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs62026661	chr15:45480316-45480317	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569623714	chr15:45480321-45480322	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs538462025	chr15:45480322-45480323	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs373367853	chr15:45480432-45480433	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs554849603	chr15:45480444-45480445	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs151004457	chr15:45480542-45480543	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs140848486	chr15:45480564-45480565	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs574493556	chr15:45480657-45480658	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs150139581	chr15:45480708-45480709	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs577320362	chr15:45480719-45480720	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs545841458	chr15:45480726-45480727	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs563019096	chr15:45480730-45480731	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs541421631	chr15:45480732-45480733	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs531687844	chr15:45480789-45480790	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs563278071	chr15:45480796-45480797	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs138559651	chr15:45480837-45480838	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs371070599	chr15:45480845-45480846	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs142860595	chr15:45480949-45480950	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs527439856	chr15:45480950-45480951	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs547301018	chr15:45480953-45480954	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs570382324	chr15:45481020-45481021	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
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
Basal cell lymphoma	17053054	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
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45473200-45480400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:45475800-45479400	Flanking Active TSS	Fetal Brain Female	brain
3	chr15:45476000-45480200	Weak transcription	K562	blood
4	chr15:45476600-45479200	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr15:45476800-45479400	Flanking Active TSS	HepG2	liver
6	chr15:45477200-45479600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:45477200-45480400	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr15:45477400-45479200	Enhancers	Brain Substantia Nigra	brain
9	chr15:45477400-45479400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr15:45477400-45479800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:45477600-45479200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:45477800-45479400	Flanking Active TSS	HSMM	muscle
13	chr15:45477800-45479600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:45477800-45479800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:45478000-45479200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:45478000-45479200	Enhancers	Aorta	Aorta
17	chr15:45478000-45479400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:45478000-45479400	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr15:45478000-45479400	Flanking Active TSS	HSMMtube	muscle
20	chr15:45478000-45479600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr15:45478000-45479600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:45478000-45480200	Enhancers	Placenta	Placenta
23	chr15:45478200-45479200	Enhancers	Lung	lung
24	chr15:45478200-45479200	Enhancers	NH-A	brain
25	chr15:45478200-45479400	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr15:45478200-45479600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr15:45478200-45479800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr15:45478200-45480600	Active TSS	Fetal Kidney	kidney
29	chr15:45478400-45479200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr15:45478400-45479200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:45478400-45479200	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr15:45478400-45479200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
33	chr15:45478400-45479400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:45478600-45479200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:45478600-45479200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr15:45478600-45479200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:45478600-45479400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr15:45478600-45479400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:45478600-45479400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:45478600-45479400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:45478600-45479400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr15:45478600-45479400	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr15:45478600-45479400	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr15:45478600-45479400	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr15:45478600-45479400	Flanking Active TSS	Colonic Mucosa	Colon
46	chr15:45478600-45479400	Flanking Active TSS	Fetal Brain Male	brain
47	chr15:45478600-45479400	Flanking Active TSS	Fetal Stomach	stomach
48	chr15:45478600-45479600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr15:45478600-45479600	Flanking Active TSS	Liver	Liver
50	chr15:45478600-45479600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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