Variant report

Variant	nsv547950
Chromosome Location	chr1:154474233-154480318
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	BACH1	chr1:154474694-154474836	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr1:154474924-154475153	GM12878	blood:	n/a	chr1:154475043-154475059 chr1:154474975-154474991 chr1:154475094-154475110
3	CEBPB	chr1:154474120-154474489	IMR90	lung:	n/a	chr1:154474300-154474311
4	CEBPB	chr1:154474136-154474472	A549	lung:	n/a	chr1:154474300-154474311
5	CEBPB	chr1:154474047-154474519	MCF-7	breast:	n/a	chr1:154474300-154474311
6	CEBPB	chr1:154474113-154474492	HepG2	liver:	n/a	chr1:154474300-154474311
7	CEBPB	chr1:154474207-154474525	A549	lung:	n/a	chr1:154474300-154474311
8	CEBPB	chr1:154474119-154474493	K562	blood:	n/a	chr1:154474300-154474311
9	CEBPB	chr1:154474201-154474450	K562	blood:	n/a	chr1:154474300-154474311
10	CEBPB	chr1:154474183-154474434	HepG2	liver:	n/a	chr1:154474300-154474311
11	CEBPB	chr1:154474221-154474356	HepG2	liver:	n/a	chr1:154474300-154474311
12	CEBPB	chr1:154474135-154474513	MCF-7	breast:	n/a	chr1:154474300-154474311
13	CEBPB	chr1:154474124-154474479	ECC-1	luminal epithelium:	n/a	chr1:154474300-154474311
14	CEBPB	chr1:154473971-154474633	A549	lung:	n/a	chr1:154474300-154474311
15	CEBPB	chr1:154474117-154474492	HepG2	liver:	n/a	chr1:154474300-154474311
16	CEBPB	chr1:154474271-154474320	Hela-S3	cervix:	n/a	chr1:154474300-154474311
17	CEBPB	chr1:154474046-154474595	ECC-1	luminal epithelium:	n/a	chr1:154474300-154474311
18	CEBPB	chr1:154474069-154474504	H1-hESC	embryonic stem cell:	n/a	chr1:154474300-154474311
19	CHD2	chr1:154475227-154475499	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr1:154475567-154475657	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr1:154474920-154475070	HUVEC	blood vessel:	n/a	chr1:154474958-154474971 chr1:154474956-154474974
22	CTCF	chr1:154475451-154475510	Fibrobl	skin:	n/a	n/a
23	E2F6	chr1:154473973-154475840	H1-hESC	embryonic stem cell:	n/a	chr1:154475683-154475692 chr1:154474738-154474747 chr1:154475247-154475254 chr1:154474983-154474992 chr1:154475362-154475374 chr1:154475038-154475048
24	E2F6	chr1:154474013-154475849	H1-hESC	embryonic stem cell:	n/a	chr1:154475683-154475692 chr1:154474738-154474747 chr1:154475247-154475254 chr1:154474983-154474992 chr1:154475362-154475374 chr1:154475038-154475048
25	EGR1	chr1:154474464-154474658	GM12878	blood:	n/a	chr1:154474574-154474587 chr1:154474571-154474585 chr1:154474573-154474587 chr1:154474522-154474532 chr1:154474575-154474584 chr1:154474575-154474585
26	EGR1	chr1:154474189-154474363	K562	blood:	n/a	chr1:154474311-154474325
27	EGR1	chr1:154474701-154474830	GM12878	blood:	n/a	chr1:154474734-154474748 chr1:154474817-154474830 chr1:154474735-154474745
28	EGR1	chr1:154474175-154474487	ECC-1	luminal epithelium:	n/a	chr1:154474311-154474325
29	EGR1	chr1:154474203-154474402	GM12878	blood:	n/a	chr1:154474311-154474325
30	EGR1	chr1:154474220-154474410	K562	blood:	n/a	chr1:154474311-154474325
31	GABPA	chr1:154474068-154474427	H1-hESC	embryonic stem cell:	n/a	n/a
32	GTF2F1	chr1:154475046-154475533	H1-hESC	embryonic stem cell:	n/a	n/a
33	HMGN3	chr1:154475062-154475189	K562	blood:	n/a	n/a
34	JUN	chr1:154475060-154475282	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUND	chr1:154474421-154474445	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAFF	chr1:154476433-154476685	K562	blood:	n/a	n/a
37	MAFF	chr1:154476443-154476719	HepG2	liver:	n/a	n/a
38	MAFK	chr1:154476496-154476662	K562	blood:	n/a	n/a
39	MAFK	chr1:154476491-154476677	Hela-S3	cervix:	n/a	n/a
40	MAFK	chr1:154476427-154476722	IMR90	lung:	n/a	n/a
41	MAFK	chr1:154476426-154476728	HepG2	liver:	n/a	n/a
42	MAFK	chr1:154476411-154476756	HepG2	liver:	n/a	n/a
43	MAX	chr1:154474923-154475703	H1-hESC	embryonic stem cell:	n/a	chr1:154475552-154475562 chr1:154475484-154475493 chr1:154475160-154475179 chr1:154475164-154475175
44	MAX	chr1:154475185-154475538	ECC-1	luminal epithelium:	n/a	chr1:154475484-154475493
45	MAX	chr1:154474862-154475636	HUVEC	blood vessel:	n/a	chr1:154475552-154475562 chr1:154475484-154475493 chr1:154475160-154475179 chr1:154475164-154475175
46	MAX	chr1:154474027-154475856	H1-hESC	embryonic stem cell:	n/a	chr1:154474736-154474746 chr1:154475552-154475562 chr1:154474854-154474864 chr1:154475484-154475493 chr1:154474576-154474585 chr1:154475160-154475179 chr1:154475164-154475175
47	MAX	chr1:154474033-154475830	H1-hESC	embryonic stem cell:	n/a	chr1:154474736-154474746 chr1:154475552-154475562 chr1:154474854-154474864 chr1:154475484-154475493 chr1:154474576-154474585 chr1:154475160-154475179 chr1:154475164-154475175
48	MXI1	chr1:154474997-154475323	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr1:154475289-154475570	HUVEC	blood vessel:	n/a	chr1:154475552-154475562 chr1:154475484-154475493
50	MYC	chr1:154474193-154474421	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154476306-154476356	HL-60	blood:	n/a
2	chr1:154474528-154474578	GM12892	blood:	n/a
3	chr1:154476306-154476356	HL-60	blood:	n/a
4	chr1:154474528-154474578	GM12892	blood:	n/a
5	chr1:154475173-154475223	MCF10A-Er-Src	breast:	n/a
6	chr1:154476306-154476356	T-47D	breast:	n/a
7	chr1:154479415-154479465	HRCEpiC	kidney:	n/a
8	chr1:154475688-154475738	Hela-S3	cervix:	n/a
9	chr1:154476306-154476356	AG09319	gingival:	n/a
10	chr1:154475269-154475319	K562	blood:	n/a
11	chr1:154475269-154475319	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:154476306-154476356	SK-N-SH_RA	brain:	n/a
13	chr1:154475269-154475319	A549	lung:	n/a
14	chr1:154474800-154474850	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:154475139-154475189	U87	brain:	n/a
16	chr1:154475688-154475738	HRCEpiC	kidney:	n/a
17	chr1:154474518-154474568	NT2-D1	testis:	n/a
18	chr1:154474800-154474850	HCM	heart:	n/a
19	chr1:154479415-154479465	AG09309	skin:	n/a
20	chr1:154479415-154479465	ovcar-3	ovarian:	n/a
21	chr1:154479415-154479465	Caco-2	colon:	n/a
22	chr1:154474344-154474394	NT2-D1	testis:	n/a
23	chr1:154474518-154474568	HRE	kidney:	n/a
24	chr1:154475139-154475189	GM06990	blood:	n/a
25	chr1:154475139-154475189	NT2-D1	testis:	n/a
26	chr1:154476306-154476356	AG04450	lung:	fetal
27	chr1:154475068-154475118	HRPEpiC	eye:	n/a
28	chr1:154475139-154475189	HAEpiC	amniotic membrane:	n/a
29	chr1:154474518-154474568	A549	lung:	n/a
30	chr1:154476306-154476356	K562	blood:	n/a
31	chr1:154475139-154475189	CMK	blood:	n/a
32	chr1:154474344-154474394	SK-N-SH_RA	brain:	n/a
33	chr1:154475173-154475223	ovcar-3	ovarian:	n/a
34	chr1:154475173-154475223	PrEC	prostate:	n/a
35	chr1:154476306-154476356	LNCaP	prostate:	n/a
36	chr1:154475269-154475319	MCF10A-Er-Src	breast:	n/a
37	chr1:154475139-154475189	HL-60	blood:	n/a
38	chr1:154474344-154474394	AG10803	skin:	n/a
39	chr1:154475688-154475738	HMEC	breast:	n/a
40	chr1:154475269-154475319	LNCaP	prostate:	n/a
41	chr1:154475269-154475319	PrEC	prostate:	n/a
42	chr1:154475269-154475319	HEEpiC	esophagus:	n/a
43	chr1:154474800-154474850	AG09309	skin:	n/a
44	chr1:154475068-154475118	AG09319	gingival:	n/a
45	chr1:154475139-154475189	NHBE	bronchial:	n/a
46	chr1:154475688-154475738	HEK293	kidney:	embryo
47	chr1:154474344-154474394	BJ	skin:	n/a
48	chr1:154475173-154475223	HRPEpiC	eye:	n/a
49	chr1:154475173-154475223	HCPEpiC	choroid plexus:	n/a
50	chr1:154475688-154475738	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154191216..154193063-chr1:154472171..154474701,2	K562	blood:
2	chr1:154473384..154476326-chr1:154529885..154532539,2	MCF-7	breast:
3	chr1:154473005..154476684-chr1:154478833..154482478,5	K562	blood:
4	chr1:154479773..154481330-chr1:154485043..154487707,2	MCF-7	breast:

Variant related genes	Relation type
TDRD10	TF binding region
SHE	TF binding region
TDRD10	CpG island
SHE	CpG island
ENSG00000160714	chromatin interactions
ENSG00000143569	chromatin interactions
ENSG00000143612	chromatin interactions
ENSG00000169291	chromatin interactions
ENSG00000163239	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12729294	chr1:154474285-154474286	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs12752655	chr1:154474291-154474292	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs12729317	chr1:154474322-154474323	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs12752818	chr1:154474377-154474378	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs544000805	chr1:154474384-154474385	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs531927015	chr1:154474395-154474396	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs562292274	chr1:154474397-154474398	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs529541565	chr1:154474398-154474399	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs541896340	chr1:154474432-154474433	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs185662597	chr1:154474438-154474439	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs577298426	chr1:154474487-154474488	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs6703672	chr1:154474557-154474558	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551889098	chr1:154474580-154474581	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs564000149	chr1:154474583-154474584	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs531517408	chr1:154474659-154474660	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs549536550	chr1:154474684-154474685	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs567890722	chr1:154474694-154474695	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs535323982	chr1:154474730-154474731	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs573755066	chr1:154474735-154474736	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs547857946	chr1:154474827-154474828	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs566085872	chr1:154474829-154474830	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs539771654	chr1:154474874-154474875	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs12753666	chr1:154474875-154474876	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576784511	chr1:154474890-154474891	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs12753680	chr1:154474900-154474901	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs113385519	chr1:154474943-154474944	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs542764780	chr1:154474967-154474968	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs556131172	chr1:154474978-154474979	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs574276765	chr1:154474984-154474985	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs116533679	chr1:154475001-154475002	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs12738129	chr1:154475037-154475038	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs12753872	chr1:154475050-154475051	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs12753874	chr1:154475054-154475055	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs560146078	chr1:154475091-154475092	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs367554573	chr1:154475100-154475101	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs572056689	chr1:154475115-154475116	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs545749019	chr1:154475182-154475183	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs563760756	chr1:154475200-154475201	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs12734685	chr1:154475210-154475211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs372259475	chr1:154475264-154475265	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs573531409	chr1:154475293-154475294	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs531233424	chr1:154475309-154475310	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs549648762	chr1:154475320-154475321	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs6658175	chr1:154475330-154475331	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs374945337	chr1:154475331-154475332	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs188460497	chr1:154475332-154475333	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs369073958	chr1:154475339-154475340	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs566121746	chr1:154475347-154475348	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs539574829	chr1:154475379-154475380	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs60903547	chr1:154475417-154475418	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154471200-154475400	Active TSS	Right Atrium	heart
2	chr1:154472000-154475200	Bivalent/Poised TSS	Left Ventricle	heart
3	chr1:154472200-154475400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr1:154472200-154475400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
5	chr1:154472400-154474400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
6	chr1:154472400-154475400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
7	chr1:154472800-154474800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:154472800-154475200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:154472800-154475200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
10	chr1:154472800-154475200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr1:154473000-154475000	Active TSS	Lung	lung
12	chr1:154473200-154474400	Flanking Active TSS	Liver	Liver
13	chr1:154473200-154475200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:154473200-154475200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
15	chr1:154473200-154475600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr1:154473200-154475600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:154473400-154474800	Bivalent/Poised TSS	Aorta	Aorta
18	chr1:154473400-154475000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
19	chr1:154473400-154475200	Active TSS	HUVEC	blood vessel
20	chr1:154473400-154475400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
21	chr1:154473800-154474400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:154473800-154474400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:154473800-154474400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
24	chr1:154473800-154474400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr1:154473800-154474600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
26	chr1:154473800-154474600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
27	chr1:154473800-154474800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr1:154473800-154474800	Flanking Active TSS	Pancreas	Pancrea
29	chr1:154473800-154475200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr1:154473800-154475200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
31	chr1:154473800-154475400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:154473800-154475400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:154473800-154475400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr1:154473800-154475400	Bivalent Enhancer	Primary B cells from cord blood	blood
35	chr1:154473800-154475400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr1:154473800-154475400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:154473800-154475400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:154473800-154475400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:154473800-154475400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr1:154473800-154475400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr1:154474000-154474400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:154474000-154474400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
43	chr1:154474000-154474400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:154474000-154474400	Flanking Active TSS	Placenta	Placenta
45	chr1:154474000-154474400	Bivalent/Poised TSS	HepG2	liver
46	chr1:154474000-154474600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:154474000-154474600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:154474000-154474600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:154474000-154474600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:154474000-154474600	Bivalent/Poised TSS	A549	lung

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