Variant report

Variant	esv3453085
Chromosome Location	chr1:154156328-154161626
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	chr1:154158624-154159915	K562	blood:	n/a	n/a
2	ATF1	chr1:154158633-154158895	K562	blood:	n/a	n/a
3	ATF1	chr1:154159321-154159871	K562	blood:	n/a	n/a
4	BHLHE40	chr1:154158700-154158934	K562	blood:	n/a	n/a
5	CBX3	chr1:154159565-154159900	K562	blood:	n/a	n/a
6	CBX3	chr1:154159525-154159938	K562	blood:	n/a	n/a
7	CCNT2	chr1:154159243-154159880	K562	blood:	n/a	n/a
8	CEBPB	chr1:154159577-154159982	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr1:154159001-154159295	Hela-S3	cervix:	n/a	chr1:154159149-154159160
10	CEBPB	chr1:154158935-154159958	K562	blood:	n/a	chr1:154159149-154159160
11	CEBPB	chr1:154159620-154159916	A549	lung:	n/a	n/a
12	CEBPB	chr1:154159627-154159909	HepG2	liver:	n/a	n/a
13	CEBPB	chr1:154159062-154159279	H1-hESC	embryonic stem cell:	n/a	chr1:154159149-154159160
14	CEBPB	chr1:154158973-154159276	A549	lung:	n/a	chr1:154159149-154159160
15	CEBPB	chr1:154158897-154160345	K562	blood:	n/a	chr1:154159149-154159160
16	CEBPB	chr1:154159609-154159880	K562	blood:	n/a	n/a
17	CEBPB	chr1:154159599-154160194	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr1:154158997-154159285	IMR90	lung:	n/a	chr1:154159149-154159160
19	CEBPB	chr1:154158983-154159260	HepG2	liver:	n/a	chr1:154159149-154159160
20	CEBPD	chr1:154159286-154160016	K562	blood:	n/a	n/a
21	CEBPD	chr1:154158708-154159966	K562	blood:	n/a	n/a
22	CHD1	chr1:154155822-154156368	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr1:154158736-154158814	K562	blood:	n/a	n/a
24	CTCF	chr1:154158680-154158830	GM12868	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
25	CTCF	chr1:154158700-154158850	Hela-S3	cervix:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
26	CTCF	chr1:154159040-154159190	HCM	heart:	n/a	n/a
27	CTCF	chr1:154158660-154158850	Fibrobl	skin:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
28	CTCF	chr1:154158720-154158870	NHDF-neo	bronchial:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
29	CTCF	chr1:154158640-154158790	GM12870	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
30	CTCF	chr1:154158680-154158830	NHLF	lung:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
31	CTCF	chr1:154158680-154158830	NHEK	skin:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
32	CTCF	chr1:154158477-154158967	MCF-7	breast:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
33	CTCF	chr1:154158660-154158810	GM12873	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
34	CTCF	chr1:154158680-154158830	GM12865	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
35	CTCF	chr1:154158525-154158946	K562	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
36	CTCF	chr1:154158780-154158930	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr1:154158600-154158813	SK-N-SH_RA	brain:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
38	CTCF	chr1:154158740-154158890	BE2_C	brain:	n/a	n/a
39	CTCF	chr1:154158720-154158870	HMEC	breast:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
40	CTCF	chr1:154158676-154158781	Kidney_OC	kidney:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
41	CTCF	chr1:154158680-154158830	HMEC	breast:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
42	CTCF	chr1:154158636-154158847	Pancreas_OC	pancreas:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
43	CTCF	chr1:154158740-154158890	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr1:154158720-154158870	WI-38	lung:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
45	CTCF	chr1:154158651-154158844	LNCaP	prostate:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
46	CTCF	chr1:154158700-154158850	GM12864	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
47	CTCF	chr1:154158618-154158894	NHEK	skin:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
48	CTCF	chr1:154158558-154158999	K562	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
49	CTCF	chr1:154158660-154158810	HCFaa	heart:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
50	CTCF	chr1:154158630-154158869	GM13977	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154159226-154159276	GM12878	blood:	n/a
2	chr1:154159226-154159276	BE2_C	brain:	n/a
3	chr1:154159226-154159276	Hela-S3	cervix:	n/a
4	chr1:154159226-154159276	NHDF-neo	bronchial:	n/a
5	chr1:154159226-154159276	HRE	kidney:	n/a
6	chr1:154159226-154159276	HCT-116	colon:	n/a
7	chr1:154159226-154159276	GM12892	blood:	n/a
8	chr1:154159226-154159276	BJ	skin:	n/a
9	chr1:154159226-154159276	Hepatocyte	liver:	n/a
10	chr1:154159226-154159276	HCF	heart:	n/a
11	chr1:154159226-154159276	HCPEpiC	choroid plexus:	n/a
12	chr1:154159226-154159276	GM12891	blood:	n/a
13	chr1:154159226-154159276	AG04450	lung:	fetal
14	chr1:154159226-154159276	U87	brain:	n/a
15	chr1:154159226-154159276	ovcar-3	ovarian:	n/a
16	chr1:154159226-154159276	PANC-1	pancreas:	n/a
17	chr1:154159226-154159276	SKMC	muscle:	n/a
18	chr1:154159226-154159276	GM19239	blood:	n/a
19	chr1:154159226-154159276	HIPEpiC	eye:	n/a
20	chr1:154159226-154159276	PrEC	prostate:	n/a
21	chr1:154159226-154159276	HRPEpiC	eye:	n/a
22	chr1:154159226-154159276	NT2-D1	testis:	n/a
23	chr1:154159226-154159276	AoSMC	blood vessel:	n/a
24	chr1:154159226-154159276	AG09319	gingival:	n/a
25	chr1:154159226-154159276	SK-N-MC	brain:	n/a
26	chr1:154159226-154159276	LNCaP	prostate:	n/a
27	chr1:154159226-154159276	K562	blood:	n/a
28	chr1:154159226-154159276	A549	lung:	n/a
29	chr1:154159226-154159276	HUVEC	blood vessel:	n/a
30	chr1:154159226-154159276	NHBE	bronchial:	n/a
31	chr1:154159226-154159276	HAEpiC	amniotic membrane:	n/a
32	chr1:154159226-154159276	HEK293	kidney:	embryo
33	chr1:154159226-154159276	HEEpiC	esophagus:	n/a
34	chr1:154159226-154159276	GM06990	blood:	n/a
35	chr1:154159226-154159276	RPTEC	kidney:	n/a
36	chr1:154159226-154159276	SK-N-SH	brain:	n/a
37	chr1:154159226-154159276	AG09309	skin:	n/a
38	chr1:154159226-154159276	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:154159226-154159276	H1-hESC	embryonic stem cell:	embryo
40	chr1:154159226-154159276	SAEC	small airway:	n/a
41	chr1:154159226-154159276	AG10803	skin:	n/a
42	chr1:154159226-154159276	ProgFib	skin:	n/a
43	chr1:154159226-154159276	ECC-1	luminal epithelium:	n/a
44	chr1:154159226-154159276	PFSK-1	brain:	n/a
45	chr1:154159226-154159276	HL-60	blood:	n/a
46	chr1:154159226-154159276	T-47D	breast:	n/a
47	chr1:154159226-154159276	HMEC	breast:	n/a
48	chr1:154159226-154159276	CMK	blood:	n/a
49	chr1:154159226-154159276	HepG2	liver:	n/a
50	chr1:154159226-154159276	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153917479..153920688-chr1:154153090..154156398,3	MCF-7	breast:
2	chr1:154158680..154159404-chr8:91334673..91335355,2	MCF-7	breast:
3	chr1:154157620..154160474-chr1:154243122..154244827,3	MCF-7	breast:
4	chr1:154159154..154160815-chr1:154163047..154164875,2	MCF-7	breast:
5	chr1:153940285..153941977-chr1:154154150..154156390,2	MCF-7	breast:
6	chr1:154157284..154158987-chr1:154175294..154177755,2	K562	blood:
7	chr1:154145134..154153289-chr1:154153487..154160631,22	K562	blood:
8	chr1:153961765..153965852-chr1:154152407..154156955,8	K562	blood:
9	chr1:154155753..154156362-chr1:173836761..173837295,2	Hela-S3	cervix:
10	chr1:153915763..153918216-chr1:154155038..154156841,2	MCF-7	breast:
11	chr1:153962867..153965202-chr1:154154379..154156785,3	MCF-7	breast:
12	chr1:154155288..154157675-chr1:154160593..154163426,2	K562	blood:
13	chr1:154155037..154157341-chr1:154243497..154245632,3	MCF-7	breast:
14	chr1:154157441..154159782-chr1:154297521..154299444,2	MCF-7	breast:
15	chr1:154155826..154156719-chr11:67168555..67169361,2	Hela-S3	cervix:
16	chr1:154155019..154156953-chr1:154157061..154158850,3	MCF-7	breast:
17	chr1:153963118..153965520-chr1:154159636..154162394,3	K562	blood:
18	chr1:154161292..154163325-chr1:154245006..154246623,2	MCF-7	breast:
19	chr1:154158378..154160175-chr1:154161458..154162989,2	K562	blood:
20	chr1:154159143..154160750-chr1:154457957..154460845,2	MCF-7	breast:
21	chr1:154158245..154159342-chr1:154307445..154308150,3	K562	blood:
22	chr1:154158286..154159217-chr1:154244364..154245091,5	MCF-7	breast:
23	chr1:154149113..154161877-chr1:154185436..154196776,24	K562	blood:
24	chr1:154159712..154161711-chr1:154198727..154200350,2	K562	blood:
25	chr1:154158424..154161181-chr1:154245114..154247197,2	MCF-7	breast:
26	chr1:154158539..154161524-chr1:154242189..154245561,3	MCF-7	breast:
27	chr1:154158378..154160175-chr1:154161458..154162989,2	K562	blood:
28	chr1:154154597..154158912-chr1:154243474..154246502,4	K562	blood:
29	chr1:154154736..154156502-chr20:45945207..45947491,2	MCF-7	breast:
30	chr1:154129855..154131682-chr1:154158722..154160655,2	K562	blood:
31	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
32	chr1:154158089..154161877-chr1:154191453..154195317,5	K562	blood:
33	chr1:153961745..153965852-chr1:154153352..154156776,9	K562	blood:
34	chr1:153938202..153942686-chr1:154154566..154158952,5	MCF-7	breast:
35	chr1:154161421..154168420-chr1:154191340..154198003,13	MCF-7	breast:
36	chr1:154140357..154146704-chr1:154153646..154156969,7	MCF-7	breast:
37	chr1:154151605..154157694-chr1:154191153..154195788,18	MCF-7	breast:
38	chr1:154155278..154160143-chr1:154165338..154167782,4	K562	blood:
39	chr1:153961881..153966027-chr1:154151379..154156773,10	MCF-7	breast:
40	chr1:154156233..154161758-chr1:154162933..154167291,6	K562	blood:
41	chr1:154154370..154156741-chr1:154377003..154381011,5	MCF-7	breast:
42	chr1:154158282..154159260-chr1:154244542..154245527,2	MCF-7	breast:
43	chr1:153966341..153968649-chr1:154153580..154156511,2	K562	blood:
44	chr1:154158281..154159315-chr1:154244452..154245349,6	K562	blood:
45	chr1:154158527..154159393-chr1:154171168..154172306,5	MCF-7	breast:
46	chr1:153963252..153965177-chr1:154158511..154161067,3	MCF-7	breast:
47	chr1:154158325..154158864-chr1:154325830..154326669,2	MCF-7	breast:
48	chr1:154153643..154157449-chr1:154190048..154195510,8	K562	blood:
49	chr1:154154241..154157353-chr1:154161640..154168172,9	MCF-7	breast:
50	chr1:154158329..154159389-chr1:154307310..154308142,3	MCF-7	breast:

Variant related genes	Relation type
TPM3	TF binding region
TPM3	CpG island
ENSG00000215938	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000143575	chromatin interactions
ENSG00000267882	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000160712	chromatin interactions
ENSG00000273026	chromatin interactions
ENSG00000143612	chromatin interactions
ENSG00000143515	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000185278	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000228013	chromatin interactions
ENSG00000169291	chromatin interactions
ENSG00000198837	chromatin interactions
ENSG00000231416	chromatin interactions
ENSG00000143569	chromatin interactions

Extended variants
information (count: 185 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12745098	chr1:154156329-154156330	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556708488	chr1:154156353-154156354	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
3	rs549113277	chr1:154156360-154156361	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
4	rs1134622	chr1:154156365-154156366	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs567340518	chr1:154156370-154156371	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs1134620	chr1:154156373-154156374	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs150311528	chr1:154156425-154156426	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs552849717	chr1:154156426-154156427	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs1134618	chr1:154156432-154156433	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs1134617	chr1:154156439-154156440	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs574810854	chr1:154156459-154156460	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs577907923	chr1:154156492-154156493	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs575738536	chr1:154156508-154156509	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs538554359	chr1:154156535-154156536	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs184007537	chr1:154156550-154156551	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs540701423	chr1:154156552-154156553	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs144959621	chr1:154156564-154156565	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs187262100	chr1:154156596-154156597	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs369786034	chr1:154156597-154156598	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs190561558	chr1:154156608-154156609	Active TSS Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs182744912	chr1:154156665-154156666	Active TSS Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs370211975	chr1:154156686-154156687	Active TSS Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs565337152	chr1:154156691-154156692	Active TSS Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs12741019	chr1:154156712-154156713	Active TSS Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs12756686	chr1:154156726-154156727	Active TSS Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs201831212	chr1:154156727-154156728	Active TSS Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs532872181	chr1:154156731-154156732	Active TSS Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs544906964	chr1:154156745-154156746	Active TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs187030188	chr1:154156772-154156773	Active TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs115778762	chr1:154156823-154156824	Active TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs548949816	chr1:154156853-154156854	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs143124966	chr1:154156896-154156897	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs552807348	chr1:154157009-154157010	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs546818228	chr1:154157062-154157063	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs571330314	chr1:154157079-154157080	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs148254891	chr1:154157082-154157083	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs11265251	chr1:154157090-154157091	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs140398814	chr1:154157103-154157104	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs536258478	chr1:154157104-154157105	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs145601470	chr1:154157111-154157112	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs191872838	chr1:154157112-154157113	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs138789418	chr1:154157134-154157135	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs559143430	chr1:154157182-154157183	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs113380187	chr1:154157183-154157184	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs577385833	chr1:154157191-154157192	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs143450649	chr1:154157230-154157231	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs141958814	chr1:154157289-154157290	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs373288952	chr1:154157294-154157295	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs183250139	chr1:154157313-154157314	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs530374678	chr1:154157318-154157319	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154151600-154156400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:154152400-154156600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:154152800-154156600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:154153600-154156400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:154153800-154156400	Active TSS	GM12878-XiMat	blood
6	chr1:154153800-154156600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:154153800-154156600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:154153800-154156600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:154154000-154156400	Active TSS	Brain Germinal Matrix	brain
10	chr1:154154000-154156400	Active TSS	A549	lung
11	chr1:154154000-154157400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:154154200-154156400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:154154200-154156400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:154154200-154156400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:154154200-154156400	Active TSS	K562	blood
16	chr1:154154200-154156600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:154154400-154156400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:154154400-154156400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:154154600-154156400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr1:154154600-154156400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:154154600-154156400	Active TSS	HSMMtube	muscle
22	chr1:154154800-154156400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:154155000-154156600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:154155400-154156600	Active TSS	HepG2	liver
25	chr1:154155600-154156400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:154155800-154156400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:154155800-154156400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr1:154155800-154156400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:154155800-154156400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:154155800-154156400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:154155800-154156400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:154155800-154156400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr1:154155800-154156400	Flanking Active TSS	Fetal Thymus	thymus
34	chr1:154155800-154156400	Flanking Active TSS	Dnd41	blood
35	chr1:154155800-154156400	Flanking Active TSS	HMEC	breast
36	chr1:154155800-154156400	Flanking Active TSS	HSMM	muscle
37	chr1:154155800-154156400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:154155800-154156400	Flanking Active TSS	NH-A	brain
39	chr1:154155800-154156400	Flanking Active TSS	NHEK	skin
40	chr1:154155800-154156600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr1:154155800-154156600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:154156000-154156400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr1:154156000-154156400	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr1:154156000-154156400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr1:154156000-154156400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:154156000-154156400	Flanking Active TSS	Fetal Brain Female	brain
47	chr1:154156000-154156400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr1:154156000-154156400	Enhancers	Small Intestine	intestine
49	chr1:154156000-154156400	Flanking Active TSS	Stomach Mucosa	stomach
50	chr1:154156000-154156600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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