Variant report

Variant	esv12863
Chromosome Location	chr1:154158242-154161302
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	chr1:154159321-154159871	K562	blood:	n/a	n/a
3	ATF1	chr1:154158633-154158895	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	chr1:154159627-154159909	HepG2	liver:	n/a	n/a
9	CEBPB	chr1:154159599-154160194	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr1:154158983-154159260	HepG2	liver:	n/a	chr1:154159149-154159160
11	CEBPB	chr1:154158997-154159285	IMR90	lung:	n/a	chr1:154159149-154159160
12	CEBPB	chr1:154158897-154160345	K562	blood:	n/a	chr1:154159149-154159160
13	CEBPB	chr1:154159001-154159295	Hela-S3	cervix:	n/a	chr1:154159149-154159160
14	CEBPB	chr1:154159609-154159880	K562	blood:	n/a	n/a
15	CEBPB	chr1:154158935-154159958	K562	blood:	n/a	chr1:154159149-154159160
16	CEBPB	chr1:154159577-154159982	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr1:154159062-154159279	H1-hESC	embryonic stem cell:	n/a	chr1:154159149-154159160
18	CEBPB	chr1:154159620-154159916	A549	lung:	n/a	n/a
19	CEBPB	chr1:154158973-154159276	A549	lung:	n/a	chr1:154159149-154159160
20	CEBPD	chr1:154158708-154159966	K562	blood:	n/a	n/a
21	CEBPD	chr1:154159286-154160016	K562	blood:	n/a	n/a
22	CHD2	chr1:154158736-154158814	K562	blood:	n/a	n/a
23	CTCF	chr1:154158660-154158810	BJ	skin:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
24	CTCF	chr1:154158552-154158959	H1-hESC	embryonic stem cell:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
25	CTCF	chr1:154158640-154158790	HA-sp	spinal cord:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
26	CTCF	chr1:154158589-154158955	HepG2	liver:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
27	CTCF	chr1:154158260-154158410	BE2_C	brain:	n/a	n/a
28	CTCF	chr1:154158700-154158850	GM12864	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
29	CTCF	chr1:154158636-154158847	Pancreas_OC	pancreas:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
30	CTCF	chr1:154158700-154158850	Hela-S3	cervix:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
31	CTCF	chr1:154158760-154158910	HCM	heart:	n/a	n/a
32	CTCF	chr1:154158700-154158850	GM12872	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
33	CTCF	chr1:154158616-154158884	GM12878	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
34	CTCF	chr1:154158680-154158830	NHEK	skin:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
35	CTCF	chr1:154158649-154158854	ProgFib	skin:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
36	CTCF	chr1:154158740-154158890	RPTEC	kidney:	n/a	n/a
37	CTCF	chr1:154158640-154158790	GM12866	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
38	CTCF	chr1:154158616-154158897	A549	lung:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
39	CTCF	chr1:154158700-154158850	HCT-116	colon:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
40	CTCF	chr1:154158631-154158864	GM19240	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
41	CTCF	chr1:154158546-154158946	GM12878	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
42	CTCF	chr1:154158720-154158870	RPTEC	kidney:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
43	CTCF	chr1:154158629-154158864	MCF-7	breast:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
44	CTCF	chr1:154158680-154158830	HMEC	breast:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
45	CTCF	chr1:154158640-154158790	GM12870	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
46	CTCF	chr1:154158613-154158852	HepG2	liver:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
47	CTCF	chr1:154158640-154158790	GM12874	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
48	CTCF	chr1:154158581-154158944	K562	blood:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
49	CTCF	chr1:154158240-154158390	SAEC	small airway:	n/a	n/a
50	CTCF	chr1:154158680-154158830	AG09309	skin:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154159226-154159276	PFSK-1	brain:	n/a
2	chr1:154159226-154159276	BJ	skin:	n/a
3	chr1:154159226-154159276	AG04450	lung:	fetal
4	chr1:154159226-154159276	Hela-S3	cervix:	n/a
5	chr1:154159226-154159276	LNCaP	prostate:	n/a
6	chr1:154159226-154159276	AG09309	skin:	n/a
7	chr1:154159226-154159276	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:154159226-154159276	HL-60	blood:	n/a
9	chr1:154159226-154159276	HCPEpiC	choroid plexus:	n/a
10	chr1:154159226-154159276	SK-N-SH_RA	brain:	n/a
11	chr1:154159226-154159276	HIPEpiC	eye:	n/a
12	chr1:154159226-154159276	GM19239	blood:	n/a
13	chr1:154159226-154159276	IMR90	lung:	fetal
14	chr1:154159226-154159276	HRCEpiC	kidney:	n/a
15	chr1:154159226-154159276	ProgFib	skin:	n/a
16	chr1:154159226-154159276	GM12892	blood:	n/a
17	chr1:154159226-154159276	Caco-2	colon:	n/a
18	chr1:154159226-154159276	K562	blood:	n/a
19	chr1:154159226-154159276	AG10803	skin:	n/a
20	chr1:154159226-154159276	U87	brain:	n/a
21	chr1:154159226-154159276	T-47D	breast:	n/a
22	chr1:154159226-154159276	BE2_C	brain:	n/a
23	chr1:154159226-154159276	HNPCEpiC	eye:	n/a
24	chr1:154159226-154159276	GM06990	blood:	n/a
25	chr1:154159226-154159276	SK-N-SH	brain:	n/a
26	chr1:154159226-154159276	HCT-116	colon:	n/a
27	chr1:154159226-154159276	MCF-7	breast:	n/a
28	chr1:154159226-154159276	PrEC	prostate:	n/a
29	chr1:154159226-154159276	Hepatocyte	liver:	n/a
30	chr1:154159226-154159276	GM12891	blood:	n/a
31	chr1:154159226-154159276	ovcar-3	ovarian:	n/a
32	chr1:154159226-154159276	CMK	blood:	n/a
33	chr1:154159226-154159276	AG04449	skin:	fetal
34	chr1:154159226-154159276	H1-hESC	embryonic stem cell:	embryo
35	chr1:154159226-154159276	HEK293	kidney:	embryo
36	chr1:154159226-154159276	NT2-D1	testis:	n/a
37	chr1:154159226-154159276	Jurkat	blood:	n/a
38	chr1:154159226-154159276	GM12878	blood:	n/a
39	chr1:154159226-154159276	A549	lung:	n/a
40	chr1:154159226-154159276	NH-A	brain:	n/a
41	chr1:154159226-154159276	HUVEC	blood vessel:	n/a
42	chr1:154159226-154159276	NHBE	bronchial:	n/a
43	chr1:154159226-154159276	SK-N-MC	brain:	n/a
44	chr1:154159226-154159276	ECC-1	luminal epithelium:	n/a
45	chr1:154159226-154159276	HCM	heart:	n/a
46	chr1:154159226-154159276	AoSMC	blood vessel:	n/a
47	chr1:154159226-154159276	HAEpiC	amniotic membrane:	n/a
48	chr1:154159226-154159276	HepG2	liver:	n/a
49	chr1:154159226-154159276	SAEC	small airway:	n/a
50	chr1:154159226-154159276	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153938202..153942686-chr1:154154566..154158952,5	MCF-7	breast:
2	chr1:154161292..154163325-chr1:154245006..154246623,2	MCF-7	breast:
3	chr1:154158286..154159217-chr1:154244364..154245091,5	MCF-7	breast:
4	chr1:154158467..154161316-chr1:154169815..154172829,3	MCF-7	breast:
5	chr1:154149113..154161877-chr1:154185436..154196776,24	K562	blood:
6	chr1:154159712..154161711-chr1:154198727..154200350,2	K562	blood:
7	chr1:154129855..154131682-chr1:154158722..154160655,2	K562	blood:
8	chr1:154158539..154161524-chr1:154242189..154245561,3	MCF-7	breast:
9	chr1:154156233..154161758-chr1:154162933..154167291,6	K562	blood:
10	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
11	chr1:153963118..153965520-chr1:154159636..154162394,3	K562	blood:
12	chr1:154157284..154158987-chr1:154175294..154177755,2	K562	blood:
13	chr1:154159143..154160750-chr1:154457957..154460845,2	MCF-7	breast:
14	chr1:154155288..154157675-chr1:154160593..154163426,2	K562	blood:
15	chr1:154158281..154159315-chr1:154244452..154245349,6	K562	blood:
16	chr1:154155278..154160143-chr1:154165338..154167782,4	K562	blood:
17	chr1:154158462..154159551-chr1:154244419..154245220,5	MCF-7	breast:
18	chr1:154158282..154159260-chr1:154244542..154245527,2	MCF-7	breast:
19	chr1:154158329..154159389-chr1:154307310..154308142,3	MCF-7	breast:
20	chr1:153963252..153965177-chr1:154158511..154161067,3	MCF-7	breast:
21	chr1:154145134..154153289-chr1:154153487..154160631,22	K562	blood:
22	chr1:154157620..154160474-chr1:154243122..154244827,3	MCF-7	breast:
23	chr1:154158089..154161877-chr1:154191453..154195317,5	K562	blood:
24	chr1:154158245..154159342-chr1:154307445..154308150,3	K562	blood:
25	chr1:154155019..154156953-chr1:154157061..154158850,3	MCF-7	breast:
26	chr1:154158680..154159404-chr8:91334673..91335355,2	MCF-7	breast:
27	chr1:154157441..154159782-chr1:154297521..154299444,2	MCF-7	breast:
28	chr1:154158424..154161181-chr1:154245114..154247197,2	MCF-7	breast:
29	chr1:154158325..154158864-chr1:154325830..154326669,2	MCF-7	breast:
30	chr1:154154597..154158912-chr1:154243474..154246502,4	K562	blood:
31	chr1:154158378..154160175-chr1:154161458..154162989,2	K562	blood:
32	chr1:154158527..154159393-chr1:154171168..154172306,5	MCF-7	breast:
33	chr1:154159154..154160815-chr1:154163047..154164875,2	MCF-7	breast:

Variant related genes	Relation type
TPM3	TF binding region
TPM3	CpG island
ENSG00000177954	chromatin interactions
ENSG00000215938	chromatin interactions
ENSG00000143569	chromatin interactions
ENSG00000273026	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000143612	chromatin interactions
ENSG00000169291	chromatin interactions
ENSG00000143515	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000143575	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533941328	chr1:154158278-154158279	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs117634885	chr1:154158279-154158280	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs187216404	chr1:154158283-154158284	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs538336581	chr1:154158292-154158293	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs558342599	chr1:154158336-154158337	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs147537316	chr1:154158362-154158363	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs386635628	chr1:154158387-154158388	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs80242961	chr1:154158388-154158389	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs376438952	chr1:154158410-154158411	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs61806855	chr1:154158482-154158483	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs35841591	chr1:154158514-154158515	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs554189715	chr1:154158522-154158523	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs551051280	chr1:154158547-154158548	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs371012599	chr1:154158587-154158588	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs190713414	chr1:154158599-154158600	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs115669605	chr1:154158618-154158619	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs564895238	chr1:154158773-154158774	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs576559215	chr1:154158792-154158793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs543890518	chr1:154158815-154158816	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs562211480	chr1:154158862-154158863	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs71485834	chr1:154158881-154158882	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs10737174	chr1:154158882-154158883	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574761585	chr1:154158892-154158893	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs560194083	chr1:154158914-154158915	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs114799793	chr1:154159003-154159004	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs554260570	chr1:154159024-154159025	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs552334651	chr1:154159117-154159118	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs79923405	chr1:154159152-154159153	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs531876184	chr1:154159162-154159163	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs142519613	chr1:154159200-154159201	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs371796015	chr1:154159227-154159228	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs577424731	chr1:154159274-154159275	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs568538176	chr1:154159292-154159293	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs150940888	chr1:154159416-154159417	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs554335631	chr1:154159592-154159593	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs566292066	chr1:154159616-154159617	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs540104536	chr1:154159710-154159711	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs181868006	chr1:154159742-154159743	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs369829147	chr1:154159748-154159749	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs186030435	chr1:154159753-154159754	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs555846238	chr1:154159804-154159805	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs140767186	chr1:154159805-154159806	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs541695380	chr1:154159828-154159829	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs12129228	chr1:154159879-154159880	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs546384663	chr1:154159948-154159949	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs560289971	chr1:154159979-154159980	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs527616121	chr1:154159990-154159991	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs34064138	chr1:154160002-154160003	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs546061406	chr1:154160061-154160062	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs564337505	chr1:154160075-154160076	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 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:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154156200-154158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:154156200-154158400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:154156200-154158600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:154156200-154158800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:154156200-154163000	Weak transcription	Psoas Muscle	Psoas
6	chr1:154156400-154158400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:154156400-154158400	Weak transcription	Stomach Mucosa	stomach
8	chr1:154156400-154158400	Weak transcription	HSMM	muscle
9	chr1:154156400-154158600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:154156400-154158600	Weak transcription	Fetal Kidney	kidney
11	chr1:154156400-154158600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:154156400-154158800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:154156400-154158800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:154156400-154158800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:154156400-154159000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:154156400-154159000	Weak transcription	A549	lung
17	chr1:154156400-154159400	Weak transcription	Small Intestine	intestine
18	chr1:154156400-154159600	Weak transcription	GM12878-XiMat	blood
19	chr1:154156400-154163200	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:154156400-154164200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:154156600-154158400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:154156600-154158400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:154156600-154158400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:154156600-154158400	Weak transcription	HepG2	liver
25	chr1:154156600-154158600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:154156600-154158800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:154156600-154158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:154156600-154158800	Weak transcription	Pancreas	Pancrea
29	chr1:154156600-154164200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:154156800-154164200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:154157200-154164400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:154157400-154158600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:154157600-154158800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:154158000-154159600	Enhancers	Hela-S3	cervix
35	chr1:154158200-154158400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:154158200-154158400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr1:154158200-154158800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:154158200-154158800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:154158200-154158800	Enhancers	K562	blood
40	chr1:154158200-154159000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:154158200-154159000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:154158200-154159000	Enhancers	HSMMtube	muscle
43	chr1:154158200-154159600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:154158200-154159800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:154158400-154158600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr1:154158400-154159400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr1:154158400-154159400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:154158400-154159600	Enhancers	HSMM	muscle
49	chr1:154158400-154159800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr1:154158400-154159800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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