Variant report

Variant	esv3429530
Chromosome Location	chr2:20423096-20425644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:894)
CpG islands
(count:977)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:894 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:20425005-20425452	GM12878	blood:	n/a	n/a
2	ATF3	chr2:20423157-20423733	A549	lung:	n/a	chr2:20423168-20423177 chr2:20423356-20423365 chr2:20423342-20423362
3	ATF3	chr2:20425043-20425479	A549	lung:	n/a	n/a
4	BACH1	chr2:20425034-20425769	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:20423677-20423815	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:20424409-20424534	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr2:20422836-20423892	A549	lung:	n/a	chr2:20423173-20423182 chr2:20423256-20423265 chr2:20423168-20423181
8	BCL3	chr2:20424576-20425814	A549	lung:	n/a	chr2:20424952-20424965 chr2:20425487-20425500 chr2:20424671-20424684 chr2:20424655-20424668 chr2:20425064-20425072
9	BCLAF1	chr2:20424993-20425399	GM12878	blood:	n/a	chr2:20425064-20425072
10	BCLAF1	chr2:20423600-20424199	GM12878	blood:	n/a	n/a
11	BCLAF1	chr2:20424356-20424863	GM12878	blood:	n/a	chr2:20424671-20424684 chr2:20424655-20424668 chr2:20424428-20424441
12	BHLHE40	chr2:20425072-20425392	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:20424408-20424680	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:20423652-20423964	HepG2	liver:	n/a	n/a
15	BHLHE40	chr2:20422908-20424005	GM12878	blood:	n/a	chr2:20423349-20423365 chr2:20423396-20423412
16	BHLHE40	chr2:20424450-20424565	K562	blood:	n/a	n/a
17	BHLHE40	chr2:20424340-20424715	HepG2	liver:	n/a	chr2:20424665-20424681
18	BHLHE40	chr2:20423037-20423386	HepG2	liver:	n/a	chr2:20423349-20423365
19	BRCA1	chr2:20423540-20423687	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr2:20425175-20425272	HepG2	liver:	n/a	n/a
21	CBX3	chr2:20425068-20425319	K562	blood:	n/a	n/a
22	CCNT2	chr2:20425040-20425390	K562	blood:	n/a	n/a
23	CCNT2	chr2:20424020-20424202	K562	blood:	n/a	n/a
24	CCNT2	chr2:20424451-20424825	K562	blood:	n/a	chr2:20424472-20424481
25	CEBPB	chr2:20425186-20425304	Hela-S3	cervix:	n/a	n/a
26	CEBPD	chr2:20424453-20425498	HepG2	liver:	n/a	n/a
27	CEBPD	chr2:20423028-20423570	HepG2	liver:	n/a	n/a
28	CEBPD	chr2:20424965-20425323	HepG2	liver:	n/a	n/a
29	CEBPD	chr2:20423805-20424242	HepG2	liver:	n/a	n/a
30	CHD1	chr2:20423486-20423929	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr2:20424503-20424505	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr2:20424324-20425364	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr2:20423683-20423914	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr2:20425007-20425562	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr2:20424762-20424777	HepG2	liver:	n/a	n/a
36	CHD2	chr2:20423373-20423725	GM12878	blood:	n/a	n/a
37	CHD2	chr2:20423318-20423703	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr2:20425193-20425491	HepG2	liver:	n/a	n/a
39	CREB1	chr2:20424317-20424939	A549	lung:	n/a	n/a
40	CREB1	chr2:20423016-20423741	A549	lung:	n/a	n/a
41	CREB1	chr2:20423769-20424211	A549	lung:	n/a	n/a
42	CREB1	chr2:20424958-20425421	A549	lung:	n/a	n/a
43	CTBP2	chr2:20424350-20424800	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr2:20424996-20425435	H1-hESC	embryonic stem cell:	n/a	chr2:20425315-20425325
45	CTCF	chr2:20425160-20425310	GM12866	blood:	n/a	n/a
46	CTCF	chr2:20425108-20425340	H1-hESC	embryonic stem cell:	n/a	chr2:20425315-20425325
47	CTCF	chr2:20425140-20425290	AG10803	skin:	n/a	n/a
48	CTCF	chr2:20425160-20425310	GM12873	blood:	n/a	n/a
49	CTCF	chr2:20425490-20425633	GM19240	blood:	n/a	n/a
50	CTCF	chr2:20423360-20423510	NHDF-neo	bronchial:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20425340-20425390	IMR90	lung:	fetal
2	chr2:20425340-20425390	IMR90	lung:	fetal
3	chr2:20425246-20425296	K562	blood:	n/a
4	chr2:20425246-20425296	ovcar-3	ovarian:	n/a
5	chr2:20423114-20423164	HUVEC	blood vessel:	n/a
6	chr2:20424326-20424376	Caco-2	colon:	n/a
7	chr2:20423114-20423164	AoSMC	blood vessel:	n/a
8	chr2:20425324-20425374	K562	blood:	n/a
9	chr2:20425310-20425360	AoSMC	blood vessel:	n/a
10	chr2:20425343-20425393	PFSK-1	brain:	n/a
11	chr2:20424975-20425025	GM12892	blood:	n/a
12	chr2:20425343-20425393	SK-N-SH_RA	brain:	n/a
13	chr2:20423429-20423479	HRCEpiC	kidney:	n/a
14	chr2:20425343-20425393	T-47D	breast:	n/a
15	chr2:20424984-20425034	AG04450	lung:	fetal
16	chr2:20424423-20424473	HPAEpiC	pulmonary alveolar:	n/a
17	chr2:20425340-20425390	GM06990	blood:	n/a
18	chr2:20423846-20423896	ProgFib	skin:	n/a
19	chr2:20423429-20423479	HAEpiC	amniotic membrane:	n/a
20	chr2:20424989-20425039	SK-N-SH_RA	brain:	n/a
21	chr2:20424984-20425034	GM12892	blood:	n/a
22	chr2:20424984-20425034	HCT-116	colon:	n/a
23	chr2:20424804-20424854	GM12891	blood:	n/a
24	chr2:20425310-20425360	BE2_C	brain:	n/a
25	chr2:20425343-20425393	GM12891	blood:	n/a
26	chr2:20423114-20423164	NHDF-neo	bronchial:	n/a
27	chr2:20425395-20425445	HPAEpiC	pulmonary alveolar:	n/a
28	chr2:20424423-20424473	AG09319	gingival:	n/a
29	chr2:20425395-20425445	ovcar-3	ovarian:	n/a
30	chr2:20425246-20425296	BJ	skin:	n/a
31	chr2:20425340-20425390	NB4	blood:	n/a
32	chr2:20424984-20425034	Caco-2	colon:	n/a
33	chr2:20425246-20425296	HMEC	breast:	n/a
34	chr2:20424804-20424854	HUVEC	blood vessel:	n/a
35	chr2:20425395-20425445	Jurkat	blood:	n/a
36	chr2:20423846-20423896	Hela-S3	cervix:	n/a
37	chr2:20425000-20425050	GM12878	blood:	n/a
38	chr2:20425246-20425296	NHDF-neo	bronchial:	n/a
39	chr2:20424984-20425034	GM12878	blood:	n/a
40	chr2:20423846-20423896	AG04449	skin:	fetal
41	chr2:20425000-20425050	CMK	blood:	n/a
42	chr2:20423429-20423479	HCT-116	colon:	n/a
43	chr2:20425000-20425050	HAEpiC	amniotic membrane:	n/a
44	chr2:20425000-20425050	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:20423114-20423164	U87	brain:	n/a
46	chr2:20423429-20423479	SK-N-SH	brain:	n/a
47	chr2:20423114-20423164	CMK	blood:	n/a
48	chr2:20424975-20425025	H1-hESC	embryonic stem cell:	embryo
49	chr2:20424423-20424473	HCM	heart:	n/a
50	chr2:20425000-20425050	GM12892	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20421499..20423791-chr2:20425335..20427623,2	K562	blood:
2	chr2:20422608..20425941-chr2:20442995..20447318,5	MCF-7	breast:
3	chr2:20249888..20254017-chr2:20419396..20423263,3	MCF-7	breast:
4	chr2:20422151..20423763-chr2:20440457..20442911,2	MCF-7	breast:
5	chr2:20423460..20425374-chr2:20445845..20448782,3	MCF-7	breast:
6	chr2:20306351..20307044-chr2:20424834..20425592,2	MCF-7	breast:
7	chr2:20352822..20355874-chr2:20423290..20424865,3	MCF-7	breast:
8	chr2:20097107..20100415-chr2:20424161..20425989,3	K562	blood:
9	chr2:20249637..20253449-chr2:20421472..20424385,3	MCF-7	breast:
10	chr2:20424066..20426931-chr2:20646792..20649592,2	MCF-7	breast:
11	chr2:20306020..20309024-chr2:20421635..20424090,4	MCF-7	breast:
12	chr2:20249233..20252415-chr2:20424056..20425890,4	MCF-7	breast:
13	chr2:20299695..20307724-chr2:20421846..20426859,15	MCF-7	breast:

No data

Variant related genes	Relation type
SDC1	TF binding region
SDC1	CpG island
ENSG00000235411	chromatin interactions
ENSG00000115884	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000238735	chromatin interactions
ENSG00000223734	chromatin interactions
ENSG00000213729	chromatin interactions
ENSG00000068697	chromatin interactions
ENSG00000234378	chromatin interactions
ENSG00000183891	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566624301	chr2:20423140-20423141	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs539264289	chr2:20423148-20423149	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs552457866	chr2:20423150-20423151	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs4666375	chr2:20423154-20423155	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565087771	chr2:20423161-20423162	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs538125465	chr2:20423180-20423181	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs74651173	chr2:20423192-20423193	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs374635105	chr2:20423239-20423240	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs554618401	chr2:20423269-20423270	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs151139022	chr2:20423371-20423372	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs533746406	chr2:20423408-20423409	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs140119662	chr2:20423414-20423415	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs115328534	chr2:20423429-20423430	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs186449411	chr2:20423471-20423472	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs531246297	chr2:20423498-20423499	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs562516194	chr2:20423509-20423510	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs374331987	chr2:20423511-20423512	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs541757109	chr2:20423535-20423536	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs561627920	chr2:20423557-20423558	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs116829071	chr2:20423558-20423559	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs539953034	chr2:20423598-20423599	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs62109732	chr2:20423604-20423605	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375539919	chr2:20423637-20423638	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs532456874	chr2:20423655-20423656	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs140912312	chr2:20423671-20423672	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs368930692	chr2:20423739-20423740	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs145082417	chr2:20423764-20423765	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs548925555	chr2:20423845-20423846	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs568766343	chr2:20423868-20423869	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs530212985	chr2:20423908-20423909	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs138986173	chr2:20424062-20424063	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs553762358	chr2:20424117-20424118	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs558315715	chr2:20424129-20424130	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs539127054	chr2:20424146-20424147	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs556209930	chr2:20424217-20424218	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs576187526	chr2:20424256-20424257	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs376014122	chr2:20424319-20424320	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs541623153	chr2:20424353-20424354	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs561690119	chr2:20424359-20424360	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs114815037	chr2:20424364-20424365	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs192308917	chr2:20424448-20424449	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs183676529	chr2:20424466-20424467	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs59231157	chr2:20424573-20424574	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11544860	chr2:20424655-20424656	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs552422717	chr2:20424680-20424681	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs562977189	chr2:20424711-20424712	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs531987384	chr2:20424745-20424746	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs548790795	chr2:20424809-20424810	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs568778824	chr2:20424867-20424868	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs527942237	chr2:20424879-20424880	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20391800-20423200	Weak transcription	Right Atrium	heart
2	chr2:20415800-20423200	Weak transcription	Small Intestine	intestine
3	chr2:20416000-20423800	Transcr. at gene 5' and 3'	NHEK	skin
4	chr2:20416200-20423200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:20420400-20423200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:20421400-20423200	Weak transcription	HSMMtube	muscle
7	chr2:20421600-20423200	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr2:20421600-20423200	Enhancers	HSMM	muscle
9	chr2:20421600-20423800	Flanking Active TSS	GM12878-XiMat	blood
10	chr2:20421800-20424400	Enhancers	Fetal Brain Male	brain
11	chr2:20422000-20423200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:20422000-20425200	Active TSS	Esophagus	oesophagus
13	chr2:20422200-20423400	Bivalent Enhancer	Fetal Thymus	thymus
14	chr2:20422200-20425200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:20422400-20423200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:20422400-20423200	Flanking Bivalent TSS/Enh	Placenta	Placenta
17	chr2:20422400-20423200	Flanking Active TSS	Stomach Mucosa	stomach
18	chr2:20422400-20423800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:20422600-20423200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:20422600-20423200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr2:20422600-20423200	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr2:20422600-20423200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr2:20422600-20423200	Flanking Active TSS	NH-A	brain
24	chr2:20422600-20423400	Bivalent Enhancer	Spleen	Spleen
25	chr2:20422600-20424000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:20422600-20424200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:20422600-20425600	Active TSS	Fetal Brain Female	brain
28	chr2:20422600-20425800	Active TSS	Rectal Smooth Muscle	rectum
29	chr2:20422800-20423200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr2:20422800-20423200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr2:20422800-20423200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:20422800-20423200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr2:20422800-20423200	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr2:20422800-20423200	Flanking Active TSS	HepG2	liver
35	chr2:20422800-20423200	Flanking Active TSS	Osteobl	bone
36	chr2:20422800-20423400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr2:20422800-20423400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
38	chr2:20422800-20423400	Enhancers	Lung	lung
39	chr2:20422800-20423400	Flanking Active TSS	Pancreas	Pancrea
40	chr2:20422800-20423800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:20422800-20423800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr2:20422800-20423800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr2:20422800-20424600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr2:20422800-20424800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:20422800-20425400	Active TSS	Brain Angular Gyrus	brain
46	chr2:20422800-20425400	Active TSS	A549	lung
47	chr2:20422800-20425400	Active TSS	HMEC	breast
48	chr2:20422800-20425600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:20422800-20425600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:20422800-20425600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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