Variant report

Variant	esv3417273
Chromosome Location	chr1:120254479-120256427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:468)
CpG islands
(count:549)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:120255388-120255550	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:120255401-120255734	K562	blood:	n/a	n/a
3	ARID3A	chr1:120254222-120254721	HepG2	liver:	n/a	n/a
4	ATF1	chr1:120255335-120255605	K562	blood:	n/a	n/a
5	ATF2	chr1:120255388-120255822	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr1:120255237-120255598	K562	blood:	n/a	chr1:120255313-120255322
7	BHLHE40	chr1:120255956-120255967	K562	blood:	n/a	n/a
8	BHLHE40	chr1:120254425-120255573	K562	blood:	n/a	n/a
9	BHLHE40	chr1:120256239-120256703	K562	blood:	n/a	n/a
10	BRCA1	chr1:120254338-120254782	HepG2	liver:	n/a	n/a
11	BRCA1	chr1:120254167-120254790	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr1:120255024-120256100	Hela-S3	cervix:	n/a	n/a
13	CCNT2	chr1:120254333-120255788	K562	blood:	n/a	chr1:120255155-120255164 chr1:120255297-120255306 chr1:120255313-120255322 chr1:120255306-120255315
14	CEBPB	chr1:120255228-120255994	IMR90	lung:	n/a	n/a
15	CEBPB	chr1:120254191-120254570	K562	blood:	n/a	chr1:120254423-120254434
16	CEBPB	chr1:120254169-120254650	ECC-1	luminal epithelium:	n/a	chr1:120254423-120254434
17	CEBPB	chr1:120254235-120254619	HepG2	liver:	n/a	chr1:120254423-120254434
18	CEBPB	chr1:120254176-120254677	MCF-7	breast:	n/a	chr1:120254423-120254434
19	CEBPB	chr1:120254277-120254519	HepG2	liver:	n/a	chr1:120254423-120254434
20	CEBPB	chr1:120255956-120256142	K562	blood:	n/a	n/a
21	CEBPB	chr1:120255317-120255542	K562	blood:	n/a	n/a
22	CEBPB	chr1:120254198-120254661	A549	lung:	n/a	chr1:120254423-120254434
23	CEBPB	chr1:120254949-120255617	HepG2	liver:	n/a	n/a
24	CEBPB	chr1:120254216-120254634	MCF-7	breast:	n/a	chr1:120254423-120254434
25	CEBPB	chr1:120255312-120255609	ECC-1	luminal epithelium:	n/a	n/a
26	CEBPB	chr1:120255324-120255651	A549	lung:	n/a	n/a
27	CEBPB	chr1:120255237-120255618	K562	blood:	n/a	n/a
28	CEBPB	chr1:120255312-120255714	MCF-7	breast:	n/a	n/a
29	CEBPB	chr1:120255269-120255596	A549	lung:	n/a	n/a
30	CEBPB	chr1:120255307-120255535	HepG2	liver:	n/a	n/a
31	CEBPB	chr1:120254224-120254718	H1-hESC	embryonic stem cell:	n/a	chr1:120254423-120254434
32	CEBPB	chr1:120254240-120254688	IMR90	lung:	n/a	chr1:120254423-120254434
33	CEBPB	chr1:120254159-120256664	Hela-S3	cervix:	n/a	chr1:120254423-120254434
34	CEBPB	chr1:120255246-120255618	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr1:120255300-120255540	HepG2	liver:	n/a	n/a
36	CEBPB	chr1:120254205-120254495	ECC-1	luminal epithelium:	n/a	chr1:120254423-120254434
37	CEBPB	chr1:120254234-120254607	K562	blood:	n/a	chr1:120254423-120254434
38	CEBPB	chr1:120254342-120254484	K562	blood:	n/a	chr1:120254423-120254434
39	CEBPB	chr1:120255202-120255630	MCF-7	breast:	n/a	n/a
40	CEBPB	chr1:120255186-120255639	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr1:120255293-120255581	K562	blood:	n/a	n/a
42	CEBPB	chr1:120254263-120254715	A549	lung:	n/a	chr1:120254423-120254434
43	CEBPB	chr1:120255228-120255937	HepG2	liver:	n/a	n/a
44	CEBPD	chr1:120255072-120255610	HepG2	liver:	n/a	n/a
45	CEBPD	chr1:120255292-120255566	HepG2	liver:	n/a	n/a
46	CEBPD	chr1:120254407-120254737	HepG2	liver:	n/a	n/a
47	CHD1	chr1:120254177-120256969	H1-hESC	embryonic stem cell:	n/a	chr1:120255487-120255497 chr1:120254931-120254941 chr1:120256615-120256622
48	CHD2	chr1:120255814-120256165	HepG2	liver:	n/a	n/a
49	CHD2	chr1:120255424-120255532	K562	blood:	n/a	chr1:120255487-120255497
50	CHD2	chr1:120254206-120255633	Hela-S3	cervix:	n/a	chr1:120255487-120255497 chr1:120254931-120254941

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120254845-120254895	HRE	kidney:	n/a
2	chr1:120255387-120255437	HMEC	breast:	n/a
3	chr1:120255011-120255061	H1-hESC	embryonic stem cell:	embryo
4	chr1:120254664-120254714	NHBE	bronchial:	n/a
5	chr1:120255387-120255437	HRCEpiC	kidney:	n/a
6	chr1:120254664-120254714	ProgFib	skin:	n/a
7	chr1:120254664-120254714	HAEpiC	amniotic membrane:	n/a
8	chr1:120255941-120255991	ProgFib	skin:	n/a
9	chr1:120255011-120255061	SAEC	small airway:	n/a
10	chr1:120254845-120254895	PANC-1	pancreas:	n/a
11	chr1:120255941-120255991	SKMC	muscle:	n/a
12	chr1:120255992-120256042	NT2-D1	testis:	n/a
13	chr1:120255941-120255991	MCF10A-Er-Src	breast:	n/a
14	chr1:120255318-120255368	HCF	heart:	n/a
15	chr1:120255992-120256042	HRE	kidney:	n/a
16	chr1:120254619-120254669	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:120254845-120254895	CMK	blood:	n/a
18	chr1:120255387-120255437	HCT-116	colon:	n/a
19	chr1:120254845-120254895	HNPCEpiC	eye:	n/a
20	chr1:120255941-120255991	GM06990	blood:	n/a
21	chr1:120255104-120255154	NT2-D1	testis:	n/a
22	chr1:120254619-120254669	ECC-1	luminal epithelium:	n/a
23	chr1:120254664-120254714	Hela-S3	cervix:	n/a
24	chr1:120255992-120256042	NHBE	bronchial:	n/a
25	chr1:120254664-120254714	NHDF-neo	bronchial:	n/a
26	chr1:120255104-120255154	HCM	heart:	n/a
27	chr1:120255318-120255368	GM12892	blood:	n/a
28	chr1:120255104-120255154	HIPEpiC	eye:	n/a
29	chr1:120255992-120256042	HPAEpiC	pulmonary alveolar:	n/a
30	chr1:120255011-120255061	ovcar-3	ovarian:	n/a
31	chr1:120255992-120256042	Hela-S3	cervix:	n/a
32	chr1:120255387-120255437	A549	lung:	n/a
33	chr1:120255992-120256042	HL-60	blood:	n/a
34	chr1:120255992-120256042	GM06990	blood:	n/a
35	chr1:120255011-120255061	AG04450	lung:	fetal
36	chr1:120255387-120255437	NT2-D1	testis:	n/a
37	chr1:120254619-120254669	HRPEpiC	eye:	n/a
38	chr1:120254845-120254895	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:120255011-120255061	ECC-1	luminal epithelium:	n/a
40	chr1:120255992-120256042	ProgFib	skin:	n/a
41	chr1:120255104-120255154	HCPEpiC	choroid plexus:	n/a
42	chr1:120255387-120255437	GM12892	blood:	n/a
43	chr1:120254845-120254895	HCT-116	colon:	n/a
44	chr1:120254845-120254895	IMR90	lung:	fetal
45	chr1:120255941-120255991	CMK	blood:	n/a
46	chr1:120255992-120256042	CMK	blood:	n/a
47	chr1:120255387-120255437	BE2_C	brain:	n/a
48	chr1:120255387-120255437	HRPEpiC	eye:	n/a
49	chr1:120255941-120255991	SK-N-SH	brain:	n/a
50	chr1:120255104-120255154	CMK	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120255317..120256884-chr1:120262274..120265030,2	K562	blood:
2	chr1:120188760..120191651-chr1:120254416..120257641,3	K562	blood:
3	chr1:120188760..120191459-chr1:120254916..120257641,2	K562	blood:
4	chr1:120186762..120190857-chr1:120254727..120257522,5	MCF-7	breast:
5	chr1:120228899..120230823-chr1:120252883..120254482,3	K562	blood:
6	chr1:120254449..120255374-chr3:25705936..25706569,2	Hela-S3	cervix:
7	chr1:120201333..120204049-chr1:120254351..120256217,2	MCF-7	breast:
8	chr1:120255588..120256130-chr10:32734472..32735272,2	NB4	blood:
9	chr1:120254553..120256088-chr2:64878581..64881512,2	K562	blood:
10	chr1:120253275..120257099-chr1:120276679..120281090,4	K562	blood:
11	chr1:120229496..120231621-chr1:120254696..120256885,2	K562	blood:

No data

Variant related genes	Relation type
PHGDH	TF binding region
PHGDH	CpG island
ENSG00000077097	chromatin interactions
ENSG00000216937	chromatin interactions
ENSG00000264219	chromatin interactions
ENSG00000143067	chromatin interactions
ENSG00000179833	chromatin interactions
ENSG00000092621	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587702263	chr1:120254504-120254505	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs561931	chr1:120254506-120254507	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs587655284	chr1:120254514-120254515	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs139151932	chr1:120254536-120254537	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs11555913	chr1:120254545-120254546	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs3748710	chr1:120254582-120254583	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs141640017	chr1:120254619-120254620	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs199784256	chr1:120254670-120254671	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs587615037	chr1:120254713-120254714	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs151172409	chr1:120254723-120254724	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs147049140	chr1:120254732-120254733	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs376722247	chr1:120254735-120254736	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs587727613	chr1:120254769-120254770	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs587623477	chr1:120254774-120254775	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs143217390	chr1:120254783-120254784	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs377293412	chr1:120254795-120254796	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs115928667	chr1:120254807-120254808	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs374927702	chr1:120254809-120254810	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs587709994	chr1:120254833-120254834	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs138275645	chr1:120254913-120254914	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs587661939	chr1:120254936-120254937	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs587749060	chr1:120254958-120254959	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs587622502	chr1:120254987-120254988	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs587679533	chr1:120254991-120254992	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs587734989	chr1:120255036-120255037	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs478093	chr1:120255126-120255127	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
27	rs587686290	chr1:120255132-120255133	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs369746326	chr1:120255170-120255171	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs587760832	chr1:120255206-120255207	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs374722513	chr1:120255263-120255264	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs587691209	chr1:120255272-120255273	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs11583993	chr1:120255370-120255371	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs3790713	chr1:120255388-120255389	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs587670719	chr1:120255431-120255432	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs587725785	chr1:120255509-120255510	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs839615	chr1:120255578-120255579	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs587628954	chr1:120255621-120255622	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs587714672	chr1:120255641-120255642	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs587607107	chr1:120255682-120255683	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs587668124	chr1:120255686-120255687	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs587724579	chr1:120255710-120255711	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs78621095	chr1:120255790-120255791	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs587677550	chr1:120255814-120255815	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs587734563	chr1:120255827-120255828	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs587630180	chr1:120255854-120255855	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs114441074	chr1:120255861-120255862	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs587741638	chr1:120255873-120255874	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs115546878	chr1:120255893-120255894	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs587717240	chr1:120255894-120255895	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs587771177	chr1:120255899-120255900	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Cancer	21272361	CNVD
Pancreatic cancer	17952125	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120254000-120254600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:120254200-120254600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr1:120254200-120254600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:120254200-120254600	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
5	chr1:120254200-120254600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:120254200-120254600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:120254200-120254600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:120254200-120254600	Active TSS	Colonic Mucosa	Colon
9	chr1:120254200-120254600	Active TSS	Psoas Muscle	Psoas
10	chr1:120254200-120254600	Active TSS	Right Atrium	heart
11	chr1:120254200-120254800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
12	chr1:120254200-120254800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:120254200-120254800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:120254200-120254800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr1:120254200-120254800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:120254200-120254800	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:120254200-120255000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
18	chr1:120254200-120255000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr1:120254200-120255000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:120254200-120255000	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr1:120254200-120255000	Flanking Active TSS	Liver	Liver
22	chr1:120254200-120255000	Active TSS	Fetal Heart	heart
23	chr1:120254200-120255000	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr1:120254200-120255000	Flanking Active TSS	HUVEC	blood vessel
25	chr1:120254200-120255000	Flanking Active TSS	K562	blood
26	chr1:120254200-120255200	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr1:120254200-120255200	Bivalent/Poised TSS	HepG2	liver
28	chr1:120254200-120255200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:120254200-120255400	Active TSS	Primary T cells from cord blood	blood
30	chr1:120254200-120255400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:120254200-120255400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:120254200-120255400	Active TSS	Brain Cingulate Gyrus	brain
33	chr1:120254200-120255400	Active TSS	A549	lung
34	chr1:120254200-120255600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:120254200-120255600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:120254200-120255600	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr1:120254200-120255600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:120254200-120255600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr1:120254200-120255600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:120254200-120255600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:120254200-120255600	Active TSS	Brain Germinal Matrix	brain
42	chr1:120254200-120255600	Active TSS	Fetal Brain Female	brain
43	chr1:120254200-120255600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:120254200-120255600	Active TSS	Fetal Lung	lung
45	chr1:120254200-120255600	Active TSS	Fetal Stomach	stomach
46	chr1:120254200-120255600	Active TSS	Thymus	Thymus
47	chr1:120254200-120255600	Active TSS	HSMM	muscle
48	chr1:120254200-120255600	Active TSS	NH-A	brain
49	chr1:120254200-120255600	Active TSS	Osteobl	bone
50	chr1:120254200-120255800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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