Variant report

Variant	esv3392983
Chromosome Location	chr1:154529853-154532901
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	chr1:154531230-154532305	HepG2	liver:	n/a	chr1:154531322-154531330
2	ATF1	chr1:154531197-154531588	K562	blood:	n/a	n/a
3	ATF2	chr1:154531299-154532111	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr1:154531640-154532424	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:154531080-154531617	GM12878	blood:	n/a	n/a
6	ATF2	chr1:154531789-154532375	GM12878	blood:	n/a	n/a
7	ATF3	chr1:154531106-154531610	K562	blood:	n/a	chr1:154531276-154531296 chr1:154531276-154531285 chr1:154531535-154531544
8	ATF3	chr1:154531111-154532240	A549	lung:	n/a	chr1:154531276-154531296 chr1:154531276-154531285 chr1:154531535-154531544
9	ATF3	chr1:154531126-154531571	HepG2	liver:	n/a	chr1:154531276-154531296 chr1:154531276-154531285 chr1:154531535-154531544
10	ATF3	chr1:154531117-154531874	GM12878	blood:	n/a	chr1:154531276-154531296 chr1:154531276-154531285 chr1:154531535-154531544
11	ATF3	chr1:154531100-154531650	H1-hESC	embryonic stem cell:	n/a	chr1:154531276-154531296 chr1:154531276-154531285 chr1:154531535-154531544
12	ATF3	chr1:154531143-154531556	GM12878	blood:	n/a	chr1:154531276-154531296 chr1:154531276-154531285 chr1:154531535-154531544
13	ATF3	chr1:154531106-154531635	K562	blood:	n/a	chr1:154531276-154531296 chr1:154531276-154531285 chr1:154531535-154531544
14	ATF3	chr1:154531133-154531590	A549	lung:	n/a	chr1:154531276-154531296 chr1:154531276-154531285 chr1:154531535-154531544
15	ATF3	chr1:154531130-154531605	H1-hESC	embryonic stem cell:	n/a	chr1:154531276-154531296 chr1:154531276-154531285 chr1:154531535-154531544
16	ATF3	chr1:154531146-154531475	K562	blood:	n/a	chr1:154531276-154531296 chr1:154531276-154531285
17	ATF3	chr1:154531112-154531735	HepG2	liver:	n/a	chr1:154531276-154531296 chr1:154531276-154531285 chr1:154531535-154531544
18	BACH1	chr1:154531219-154532249	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL3	chr1:154531107-154532425	A549	lung:	n/a	chr1:154531160-154531169 chr1:154531534-154531543 chr1:154531535-154531548
20	BCL3	chr1:154531096-154532289	A549	lung:	n/a	chr1:154531160-154531169 chr1:154531534-154531543 chr1:154531535-154531548
21	BCL3	chr1:154531122-154531694	K562	blood:	n/a	chr1:154531160-154531169 chr1:154531534-154531543 chr1:154531535-154531548
22	BCLAF1	chr1:154531081-154532413	GM12878	blood:	n/a	chr1:154531160-154531169 chr1:154531534-154531543 chr1:154531535-154531548
23	BCLAF1	chr1:154531092-154531701	K562	blood:	n/a	chr1:154531160-154531169 chr1:154531534-154531543 chr1:154531535-154531548
24	BHLHE40	chr1:154531093-154532330	K562	blood:	n/a	chr1:154531270-154531291 chr1:154531276-154531285 chr1:154531277-154531286 chr1:154531274-154531287 chr1:154531203-154531219 chr1:154531276-154531285
25	BHLHE40	chr1:154531180-154531677	HepG2	liver:	n/a	chr1:154531270-154531291 chr1:154531276-154531285 chr1:154531277-154531286 chr1:154531274-154531287 chr1:154531203-154531219 chr1:154531276-154531285
26	BHLHE40	chr1:154531057-154532330	HepG2	liver:	n/a	chr1:154531270-154531291 chr1:154531276-154531285 chr1:154531277-154531286 chr1:154531274-154531287 chr1:154531203-154531219 chr1:154531276-154531285
27	BHLHE40	chr1:154531170-154531602	HepG2	liver:	n/a	chr1:154531270-154531291 chr1:154531276-154531285 chr1:154531277-154531286 chr1:154531274-154531287 chr1:154531203-154531219 chr1:154531276-154531285
28	BHLHE40	chr1:154531103-154532376	GM12878	blood:	n/a	chr1:154531270-154531291 chr1:154531276-154531285 chr1:154531277-154531286 chr1:154531274-154531287 chr1:154531203-154531219 chr1:154531276-154531285
29	BHLHE40	chr1:154531138-154531919	A549	lung:	n/a	chr1:154531270-154531291 chr1:154531276-154531285 chr1:154531277-154531286 chr1:154531274-154531287 chr1:154531203-154531219 chr1:154531276-154531285
30	BRCA1	chr1:154531181-154532346	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr1:154531238-154531487	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr1:154531310-154532172	HepG2	liver:	n/a	n/a
33	CBX3	chr1:154531058-154532359	K562	blood:	n/a	n/a
34	CBX3	chr1:154531075-154532533	HCT-116	colon:	n/a	n/a
35	CBX3	chr1:154531125-154531605	K562	blood:	n/a	n/a
36	CBX3	chr1:154531062-154532467	HCT-116	colon:	n/a	n/a
37	CCNT2	chr1:154530737-154531710	K562	blood:	n/a	chr1:154531535-154531544
38	CEBPB	chr1:154531188-154531426	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr1:154531629-154532287	H1-hESC	embryonic stem cell:	n/a	chr1:154532243-154532260
40	CEBPB	chr1:154531174-154532307	Hela-S3	cervix:	n/a	chr1:154532243-154532260
41	CEBPD	chr1:154531095-154531415	HepG2	liver:	n/a	n/a
42	CEBPD	chr1:154530953-154531565	K562	blood:	n/a	n/a
43	CEBPD	chr1:154530942-154531689	K562	blood:	n/a	n/a
44	CEBPD	chr1:154530935-154531691	HepG2	liver:	n/a	n/a
45	CHD1	chr1:154530309-154530435	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr1:154530416-154530828	GM12878	blood:	n/a	n/a
47	CHD1	chr1:154531151-154531682	GM12878	blood:	n/a	n/a
48	CHD2	chr1:154531134-154531703	GM12878	blood:	n/a	n/a
49	CHD2	chr1:154531157-154531541	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr1:154531152-154532272	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154530688-154530738	HRPEpiC	eye:	n/a
2	chr1:154530781-154530831	SK-N-SH_RA	brain:	n/a
3	chr1:154531422-154531472	A549	lung:	n/a
4	chr1:154530688-154530738	HRPEpiC	eye:	n/a
5	chr1:154530781-154530831	SK-N-SH_RA	brain:	n/a
6	chr1:154531422-154531472	A549	lung:	n/a
7	chr1:154530902-154530952	HEK293	kidney:	embryo
8	chr1:154530688-154530738	H1-hESC	embryonic stem cell:	embryo
9	chr1:154531422-154531472	HMEC	breast:	n/a
10	chr1:154530902-154530952	PANC-1	pancreas:	n/a
11	chr1:154530688-154530738	IMR90	lung:	fetal
12	chr1:154531422-154531472	Jurkat	blood:	n/a
13	chr1:154531564-154531614	PANC-1	pancreas:	n/a
14	chr1:154531418-154531468	CMK	blood:	n/a
15	chr1:154530688-154530738	Caco-2	colon:	n/a
16	chr1:154530688-154530738	SK-N-SH	brain:	n/a
17	chr1:154530902-154530952	GM12878	blood:	n/a
18	chr1:154530781-154530831	HRPEpiC	eye:	n/a
19	chr1:154531393-154531443	PANC-1	pancreas:	n/a
20	chr1:154529936-154529986	PFSK-1	brain:	n/a
21	chr1:154530688-154530738	ECC-1	luminal epithelium:	n/a
22	chr1:154531418-154531468	HMEC	breast:	n/a
23	chr1:154531641-154531691	Caco-2	colon:	n/a
24	chr1:154531432-154531482	HEEpiC	esophagus:	n/a
25	chr1:154529936-154529986	HRE	kidney:	n/a
26	chr1:154531393-154531443	HRE	kidney:	n/a
27	chr1:154530682-154530732	CMK	blood:	n/a
28	chr1:154531418-154531468	ECC-1	luminal epithelium:	n/a
29	chr1:154531641-154531691	HL-60	blood:	n/a
30	chr1:154530781-154530831	HepG2	liver:	n/a
31	chr1:154530781-154530831	H1-hESC	embryonic stem cell:	embryo
32	chr1:154530902-154530952	Hepatocyte	liver:	n/a
33	chr1:154530781-154530831	HCPEpiC	choroid plexus:	n/a
34	chr1:154531418-154531468	SK-N-SH_RA	brain:	n/a
35	chr1:154531418-154531468	PANC-1	pancreas:	n/a
36	chr1:154530902-154530952	HL-60	blood:	n/a
37	chr1:154530682-154530732	SK-N-MC	brain:	n/a
38	chr1:154531641-154531691	PFSK-1	brain:	n/a
39	chr1:154530688-154530738	BJ	skin:	n/a
40	chr1:154531393-154531443	HEK293	kidney:	embryo
41	chr1:154531564-154531614	HCF	heart:	n/a
42	chr1:154530688-154530738	NH-A	brain:	n/a
43	chr1:154531564-154531614	Jurkat	blood:	n/a
44	chr1:154531641-154531691	HCPEpiC	choroid plexus:	n/a
45	chr1:154531422-154531472	SKMC	muscle:	n/a
46	chr1:154531418-154531468	MCF-7	breast:	n/a
47	chr1:154529936-154529986	SK-N-SH	brain:	n/a
48	chr1:154530781-154530831	HCF	heart:	n/a
49	chr1:154531641-154531691	HEK293	kidney:	embryo
50	chr1:154531641-154531691	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154450828..154453659-chr1:154529713..154531945,2	MCF-7	breast:
2	chr1:154531579..154532180-chr1:154850720..154851668,3	K562	blood:
3	chr1:154532149..154532898-chr1:154732612..154733164,2	K562	blood:
4	chr1:154529667..154532782-chr1:154942768..154945185,3	MCF-7	breast:
5	chr1:154163875..154165876-chr1:154529636..154532185,2	MCF-7	breast:
6	chr1:154529336..154531391-chr1:154925736..154927605,2	MCF-7	breast:
7	chr1:154528624..154530149-chr1:155054658..155056691,2	MCF-7	breast:
8	chr1:154530350..154531883-chr1:154574415..154576930,2	MCF-7	breast:
9	chr1:154529851..154531893-chr1:154548972..154552165,3	MCF-7	breast:
10	chr1:154530842..154531643-chr12:27090977..27091858,2	Hela-S3	cervix:
11	chr1:154528898..154533098-chr1:154907799..154911445,7	MCF-7	breast:
12	chr1:154530233..154533708-chr1:154538204..154541561,4	K562	blood:
13	chr1:154531587..154533271-chr1:154842628..154845356,2	K562	blood:
14	chr1:154300262..154302109-chr1:154529497..154531413,2	MCF-7	breast:
15	chr1:154529223..154531101-chr1:154799055..154800739,2	K562	blood:
16	chr1:154191162..154194521-chr1:154529038..154532016,3	MCF-7	breast:
17	chr1:154532086..154532771-chr1:154539815..154540467,3	K562	blood:
18	chr1:154530922..154531876-chr3:48754303..48754928,2	HCT-116	colon:
19	chr1:154528419..154530769-chr1:154535384..154537634,2	MCF-7	breast:
20	chr1:154531125..154531942-chr10:35415007..35415704,2	Hela-S3	cervix:
21	chr1:154529929..154534088-chr1:154598976..154602957,6	MCF-7	breast:
22	chr1:154460459..154462764-chr1:154527677..154529936,2	K562	blood:
23	chr1:154532080..154532611-chr1:155033694..155034624,3	K562	blood:
24	chr1:154531772..154532575-chr1:154989868..154990469,3	K562	blood:
25	chr1:154531786..154532424-chr1:154721263..154721855,3	MCF-7	breast:
26	chr1:154528881..154534687-chr1:154578685..154583746,8	MCF-7	breast:
27	chr1:154530233..154532966-chr1:154538204..154541561,3	K562	blood:
28	chr1:154512152..154513982-chr1:154532786..154534564,2	K562	blood:
29	chr1:154532005..154532550-chr1:154723468..154724185,2	MCF-7	breast:
30	chr1:154529257..154532572-chr1:154598516..154601356,4	MCF-7	breast:
31	chr1:154532085..154532922-chr1:154850731..154851574,4	MCF-7	breast:
32	chr1:154530639..154532673-chr1:154599012..154601442,2	K562	blood:
33	chr1:154530841..154531520-chr12:121837303..121837817,2	Hela-S3	cervix:
34	chr1:154529464..154531504-chr1:155098937..155100767,2	MCF-7	breast:
35	chr1:154529028..154532359-chr1:155034427..155037689,4	MCF-7	breast:
36	chr1:154505955..154508916-chr1:154529670..154532236,2	K562	blood:
37	chr1:154531958..154532634-chr1:154714061..154714662,4	MCF-7	breast:
38	chr1:154458190..154460389-chr1:154527899..154530840,2	K562	blood:
39	chr1:154473384..154476326-chr1:154529885..154532539,2	MCF-7	breast:
40	chr1:154529703..154532693-chr1:155057067..155059987,2	K562	blood:
41	chr1:154531670..154532759-chr1:154732301..154733673,8	MCF-7	breast:
42	chr1:154531510..154533485-chr1:154539706..154542838,3	MCF-7	breast:
43	chr1:154531434..154533129-chr1:154974211..154976130,2	MCF-7	breast:

Variant related genes	Relation type
UBE2Q1	TF binding region
UBE2Q1	CpG island
ENSG00000251246	chromatin interactions
ENSG00000143612	chromatin interactions
ENSG00000111790	chromatin interactions
ENSG00000273110	chromatin interactions
ENSG00000163346	chromatin interactions
ENSG00000143537	chromatin interactions
ENSG00000169242	chromatin interactions
ENSG00000064102	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000143569	chromatin interactions
ENSG00000068745	chromatin interactions
ENSG00000160685	chromatin interactions
ENSG00000230534	chromatin interactions
ENSG00000143603	chromatin interactions
ENSG00000270361	chromatin interactions
ENSG00000163239	chromatin interactions
ENSG00000160716	chromatin interactions
ENSG00000169291	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000243364	chromatin interactions
ENSG00000233875	chromatin interactions
ENSG00000160710	chromatin interactions
ENSG00000143515	chromatin interactions
ENSG00000163344	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150628483	chr1:154529863-154529864	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
2	rs545778879	chr1:154529891-154529892	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
3	rs114697639	chr1:154529926-154529927	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
4	rs182217226	chr1:154529957-154529958	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
5	rs543781164	chr1:154530033-154530034	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
6	rs11578203	chr1:154530053-154530054	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
7	rs186400015	chr1:154530338-154530339	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
8	rs529104794	chr1:154530396-154530397	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs560980532	chr1:154530493-154530494	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
10	rs77445265	chr1:154530517-154530518	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
11	rs139782907	chr1:154530588-154530589	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
12	rs376607858	chr1:154530608-154530609	Active TSS Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
13	rs376398955	chr1:154530668-154530669	Active TSS Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs370404940	chr1:154530693-154530694	Active TSS Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs144786832	chr1:154530733-154530734	Active TSS Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs200634239	chr1:154530745-154530746	Active TSS Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs200884226	chr1:154530746-154530747	Active TSS Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs372729486	chr1:154530752-154530753	Active TSS Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs375766283	chr1:154530765-154530766	Active TSS Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs202059318	chr1:154530774-154530775	Active TSS Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs372269665	chr1:154530775-154530776	Active TSS Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs376201812	chr1:154530786-154530787	Active TSS Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs369150212	chr1:154530797-154530798	Active TSS Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs368780315	chr1:154530826-154530827	Active TSS Weak transcription	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs531098568	chr1:154530880-154530881	Active TSS Weak transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
26	rs549444803	chr1:154530935-154530936	Active TSS Weak transcription	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
27	rs569049313	chr1:154531030-154531031	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
28	rs368389808	chr1:154531091-154531092	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
29	rs5777917	chr1:154531100-154531101	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
30	rs567823943	chr1:154531165-154531166	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs534875079	chr1:154531169-154531170	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs547184666	chr1:154531199-154531200	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs558069221	chr1:154531233-154531234	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs565735433	chr1:154531248-154531249	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs147935287	chr1:154531334-154531335	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs145464582	chr1:154531388-154531389	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs377710676	chr1:154531423-154531424	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
38	rs576142043	chr1:154531447-154531448	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
39	rs537332564	chr1:154531452-154531453	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
40	rs377206943	chr1:154531486-154531487	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
41	rs374888967	chr1:154531488-154531489	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
42	rs573893545	chr1:154531536-154531537	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs140116421	chr1:154531549-154531550	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
44	rs559125841	chr1:154531573-154531574	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
45	rs577712859	chr1:154531576-154531577	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
46	rs545136282	chr1:154531589-154531590	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
47	rs145647595	chr1:154531613-154531614	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
48	rs147756522	chr1:154531713-154531714	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
49	rs549378460	chr1:154531756-154531757	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs561384576	chr1:154531763-154531764	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 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:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154528400-154530600	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr1:154528600-154530000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr1:154528600-154530000	Flanking Active TSS	HSMMtube	muscle
4	chr1:154528600-154530200	Flanking Active TSS	HMEC	breast
5	chr1:154528600-154530400	Flanking Active TSS	Hela-S3	cervix
6	chr1:154528600-154530600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:154528600-154530600	Flanking Active TSS	HUVEC	blood vessel
8	chr1:154528800-154530000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:154528800-154530000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:154528800-154530000	Flanking Active TSS	NH-A	brain
11	chr1:154528800-154530200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:154528800-154530200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:154528800-154530200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:154528800-154530200	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr1:154528800-154530200	Flanking Active TSS	Fetal Heart	heart
16	chr1:154528800-154530400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:154528800-154530400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:154528800-154530400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:154528800-154530600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:154528800-154530600	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr1:154528800-154530600	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr1:154528800-154530600	Flanking Active TSS	NHEK	skin
23	chr1:154528800-154530800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:154528800-154531600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:154528800-154532000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:154529000-154530000	Flanking Active TSS	Right Atrium	heart
27	chr1:154529000-154530200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr1:154529000-154530200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:154529000-154530200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr1:154529000-154530400	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr1:154529000-154530400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr1:154529000-154530400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr1:154529000-154530400	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr1:154529000-154530400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr1:154529000-154530400	Flanking Active TSS	Osteobl	bone
36	chr1:154529000-154530600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:154529000-154530600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr1:154529000-154530600	Flanking Active TSS	Liver	Liver
39	chr1:154529000-154530600	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr1:154529000-154530600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:154529000-154530600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:154529000-154530800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr1:154529000-154530800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr1:154529000-154530800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:154529000-154530800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr1:154529000-154532200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:154529200-154530000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:154529200-154530200	Enhancers	Spleen	Spleen
49	chr1:154529200-154530400	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr1:154529200-154530400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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