Variant report

Variant	esv3329174
Chromosome Location	chr1:225839754-225842702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:459)
CpG islands
(count:550)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:225839171-225839964	HepG2	liver:	n/a	chr1:225839589-225839605
2	ARID3A	chr1:225841270-225841463	HepG2	liver:	n/a	n/a
3	ATF2	chr1:225841086-225841925	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr1:225841286-225841826	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:225840778-225840826	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:225841218-225841819	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr1:225841233-225841949	A549	lung:	n/a	chr1:225841480-225841493
8	BCL3	chr1:225842650-225844106	A549	lung:	n/a	n/a
9	BHLHE40	chr1:225841274-225841682	A549	lung:	n/a	chr1:225841474-225841490
10	BRCA1	chr1:225840762-225840767	HepG2	liver:	n/a	n/a
11	BRCA1	chr1:225839259-225840054	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr1:225841395-225841584	HepG2	liver:	n/a	n/a
13	CBX3	chr1:225842654-225843860	HCT-116	colon:	n/a	n/a
14	CCNT2	chr1:225841317-225841692	K562	blood:	n/a	n/a
15	CEBPB	chr1:225839036-225839768	IMR90	lung:	n/a	chr1:225839739-225839751
16	CEBPB	chr1:225841558-225841790	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr1:225841470-225842164	A549	lung:	n/a	n/a
18	CEBPB	chr1:225839073-225839868	A549	lung:	n/a	chr1:225839739-225839751
19	CEBPB	chr1:225840738-225840919	HepG2	liver:	n/a	n/a
20	CEBPB	chr1:225840632-225840851	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr1:225841523-225841773	HepG2	liver:	n/a	n/a
22	CEBPB	chr1:225839567-225840150	A549	lung:	n/a	chr1:225839739-225839751
23	CEBPB	chr1:225841455-225841884	IMR90	lung:	n/a	n/a
24	CEBPB	chr1:225838999-225839885	Hela-S3	cervix:	n/a	chr1:225839739-225839751
25	CEBPD	chr1:225840599-225841365	HepG2	liver:	n/a	n/a
26	CEBPD	chr1:225840699-225841023	HepG2	liver:	n/a	n/a
27	CHD1	chr1:225841335-225841789	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr1:225842024-225842301	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr1:225839300-225840704	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr1:225839621-225840387	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr1:225840615-225841753	HepG2	liver:	n/a	chr1:225840811-225840821
32	CHD2	chr1:225840957-225841932	H1-hESC	embryonic stem cell:	n/a	chr1:225841790-225841800
33	CHD2	chr1:225839712-225839990	HepG2	liver:	n/a	n/a
34	CHD2	chr1:225840644-225841097	Hela-S3	cervix:	n/a	chr1:225840811-225840821
35	CHD2	chr1:225839585-225840471	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr1:225840439-225841956	HepG2	liver:	n/a	chr1:225841631-225841644
37	CREB1	chr1:225840330-225841904	A549	lung:	n/a	chr1:225841631-225841644
38	CTCF	chr1:225839760-225839910	HEK293	kidney:	n/a	n/a
39	CTCF	chr1:225839740-225839890	SAEC	small airway:	n/a	n/a
40	CTCF	chr1:225839774-225839879	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr1:225840460-225840610	HRPEpiC	eye:	n/a	chr1:225840465-225840474
42	CTCF	chr1:225841240-225841390	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr1:225840420-225840570	SAEC	small airway:	n/a	chr1:225840465-225840474
44	CTCF	chr1:225839822-225839839	HepG2	liver:	n/a	n/a
45	CTCF	chr1:225841489-225841493	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:225840480-225840630	HMEC	breast:	n/a	n/a
47	CTCF	chr1:225841360-225841510	HMEC	breast:	n/a	n/a
48	CTCF	chr1:225839760-225839910	HMEC	breast:	n/a	n/a
49	CTCF	chr1:225840420-225840570	SK-N-SH_RA	brain:	n/a	chr1:225840465-225840474
50	CTCF	chr1:225839720-225839870	Caco-2	colon:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:225841605-225841655	ECC-1	luminal epithelium:	n/a
2	chr1:225841605-225841655	ECC-1	luminal epithelium:	n/a
3	chr1:225841605-225841655	GM12892	blood:	n/a
4	chr1:225841201-225841251	HCM	heart:	n/a
5	chr1:225840520-225840570	MCF-7	breast:	n/a
6	chr1:225841201-225841251	AG04450	lung:	fetal
7	chr1:225840109-225840159	Hela-S3	cervix:	n/a
8	chr1:225841794-225841844	ovcar-3	ovarian:	n/a
9	chr1:225840508-225840558	HNPCEpiC	eye:	n/a
10	chr1:225841201-225841251	BJ	skin:	n/a
11	chr1:225840831-225840881	SKMC	muscle:	n/a
12	chr1:225840376-225840426	T-47D	breast:	n/a
13	chr1:225840109-225840159	CMK	blood:	n/a
14	chr1:225840520-225840570	RPTEC	kidney:	n/a
15	chr1:225841794-225841844	NHDF-neo	bronchial:	n/a
16	chr1:225840109-225840159	NB4	blood:	n/a
17	chr1:225841794-225841844	PANC-1	pancreas:	n/a
18	chr1:225840831-225840881	GM06990	blood:	n/a
19	chr1:225840520-225840570	AG09309	skin:	n/a
20	chr1:225840109-225840159	ECC-1	luminal epithelium:	n/a
21	chr1:225840831-225840881	RPTEC	kidney:	n/a
22	chr1:225840831-225840881	PFSK-1	brain:	n/a
23	chr1:225840508-225840558	GM12878	blood:	n/a
24	chr1:225840109-225840159	HUVEC	blood vessel:	n/a
25	chr1:225841201-225841251	HRPEpiC	eye:	n/a
26	chr1:225840520-225840570	U87	brain:	n/a
27	chr1:225840508-225840558	HPAEpiC	pulmonary alveolar:	n/a
28	chr1:225840831-225840881	HEK293	kidney:	embryo
29	chr1:225841605-225841655	SK-N-MC	brain:	n/a
30	chr1:225840520-225840570	PANC-1	pancreas:	n/a
31	chr1:225840376-225840426	MCF-7	breast:	n/a
32	chr1:225840376-225840426	HCM	heart:	n/a
33	chr1:225840508-225840558	U87	brain:	n/a
34	chr1:225840831-225840881	SAEC	small airway:	n/a
35	chr1:225841605-225841655	HMEC	breast:	n/a
36	chr1:225841605-225841655	GM12878	blood:	n/a
37	chr1:225840508-225840558	LNCaP	prostate:	n/a
38	chr1:225840508-225840558	GM12891	blood:	n/a
39	chr1:225840109-225840159	GM06990	blood:	n/a
40	chr1:225841794-225841844	SK-N-SH_RA	brain:	n/a
41	chr1:225841201-225841251	NHDF-neo	bronchial:	n/a
42	chr1:225841650-225841700	Jurkat	blood:	n/a
43	chr1:225840109-225840159	HAEpiC	amniotic membrane:	n/a
44	chr1:225841201-225841251	HCF	heart:	n/a
45	chr1:225841650-225841700	HL-60	blood:	n/a
46	chr1:225840109-225840159	HIPEpiC	eye:	n/a
47	chr1:225841650-225841700	H1-hESC	embryonic stem cell:	embryo
48	chr1:225841650-225841700	A549	lung:	n/a
49	chr1:225840520-225840570	GM12891	blood:	n/a
50	chr1:225840831-225840881	BJ	skin:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225837738..225841787-chr1:225965241..225967265,3	MCF-7	breast:
2	chr1:225692749..225695160-chr1:225840876..225842568,2	MCF-7	breast:
3	chr1:225766054..225768167-chr1:225839556..225842131,2	MCF-7	breast:
4	chr1:225838732..225840997-chr1:226248323..226251215,2	MCF-7	breast:
5	chr1:225842059..225843604-chr1:225963580..225966384,2	K562	blood:
6	chr1:225811629..225814682-chr1:225837317..225840214,3	MCF-7	breast:
7	chr1:225839775..225842863-chr1:225886341..225888955,3	MCF-7	breast:
8	chr1:225841590..225843627-chr1:225887293..225890031,4	MCF-7	breast:
9	chr1:225839962..225842492-chr1:226249684..226252539,2	MCF-7	breast:
10	chr1:225839693..225840682-chr19:13049150..13050042,2	Hela-S3	cervix:
11	chr1:225840996..225843850-chr1:225947438..225950251,2	MCF-7	breast:
12	chr1:225841158..225843185-chr1:226308432..226310542,2	MCF-7	breast:
13	chr1:225839340..225843768-chr1:225964006..225968066,9	MCF-7	breast:
14	chr1:225837427..225840377-chr1:226110786..226113665,3	MCF-7	breast:
15	chr1:225839309..225842570-chr1:226062972..226068660,6	MCF-7	breast:
16	chr1:225742063..225742688-chr1:225839412..225840063,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENAH	TF binding region
ENAH	CpG island
ENSG00000227496	chromatin interactions
ENSG00000143811	chromatin interactions
ENSG00000196187	chromatin interactions
ENSG00000163041	chromatin interactions
ENSG00000272562	chromatin interactions
ENSG00000154380	chromatin interactions
ENSG00000179218	chromatin interactions
ENSG00000143742	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187478494	chr1:225839794-225839795	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs112061381	chr1:225839803-225839804	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs191676119	chr1:225839808-225839809	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs184140090	chr1:225840071-225840072	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs561523104	chr1:225840079-225840080	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs540289466	chr1:225840109-225840110	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs114029834	chr1:225840135-225840136	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs546763850	chr1:225840145-225840146	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs529013749	chr1:225840166-225840167	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs371476369	chr1:225840203-225840204	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs550304019	chr1:225840221-225840222	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs188000671	chr1:225840256-225840257	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs533019062	chr1:225840283-225840284	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs551268743	chr1:225840312-225840313	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs566305037	chr1:225840315-225840316	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs533760820	chr1:225840328-225840329	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs549192720	chr1:225840373-225840374	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs568438717	chr1:225840380-225840381	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs535990558	chr1:225840394-225840395	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs557381839	chr1:225840407-225840408	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs575718619	chr1:225840427-225840428	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs540091993	chr1:225840436-225840437	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs558504433	chr1:225840445-225840446	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs200923180	chr1:225840452-225840453	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs376583227	chr1:225840454-225840455	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs540449549	chr1:225840473-225840474	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs11558604	chr1:225840474-225840475	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs562354633	chr1:225840511-225840512	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs116481763	chr1:225840539-225840540	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs543913091	chr1:225840573-225840574	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs149362944	chr1:225840629-225840630	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs368993614	chr1:225840759-225840760	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs532788718	chr1:225840761-225840762	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs574091282	chr1:225840894-225840895	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs559736104	chr1:225841035-225841036	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs551224078	chr1:225841087-225841088	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs34058358	chr1:225841093-225841094	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs560169439	chr1:225841094-225841095	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs35221216	chr1:225841095-225841096	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs372074272	chr1:225841116-225841117	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs180979661	chr1:225841119-225841120	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs185414012	chr1:225841122-225841123	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs567493113	chr1:225841233-225841234	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs535536736	chr1:225841236-225841237	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs569235324	chr1:225841253-225841254	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs551097333	chr1:225841264-225841265	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs537997693	chr1:225841337-225841338	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs533661475	chr1:225841360-225841361	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs558264608	chr1:225841420-225841421	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs573457261	chr1:225841440-225841441	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225836200-225840400	Active TSS	Right Atrium	heart
2	chr1:225836200-225842000	Active TSS	Aorta	Aorta
3	chr1:225836600-225841400	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr1:225836600-225842200	Active TSS	Right Ventricle	heart
5	chr1:225836600-225842200	Active TSS	Stomach Smooth Muscle	stomach
6	chr1:225836800-225842200	Active TSS	NHLF	lung
7	chr1:225837000-225842000	Active TSS	Ovary	ovary
8	chr1:225837000-225842800	Active TSS	Psoas Muscle	Psoas
9	chr1:225837200-225841800	Active TSS	Osteobl	bone
10	chr1:225837200-225842800	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr1:225837400-225842200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:225837600-225841600	Active TSS	Fetal Muscle Leg	muscle
13	chr1:225837600-225841800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:225837600-225842000	Active TSS	Fetal Lung	lung
15	chr1:225837600-225842000	Active TSS	Rectal Smooth Muscle	rectum
16	chr1:225837600-225842400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr1:225838000-225841400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:225838000-225841800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:225838000-225841800	Active TSS	Colon Smooth Muscle	Colon
20	chr1:225838000-225842000	Active TSS	Fetal Stomach	stomach
21	chr1:225838000-225842200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:225838000-225842400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:225838000-225842400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:225838000-225842800	Active TSS	A549	lung
25	chr1:225838200-225841600	Active TSS	Fetal Brain Female	brain
26	chr1:225838200-225841800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:225838200-225841800	Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:225838200-225842000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:225838200-225842000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:225838200-225842000	Active TSS	NH-A	brain
31	chr1:225838200-225842200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:225838200-225842200	Active TSS	HSMM	muscle
33	chr1:225838200-225842200	Active TSS	HSMMtube	muscle
34	chr1:225838200-225842400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr1:225838200-225842400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr1:225838200-225842400	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:225838200-225842800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:225838400-225842000	Active TSS	NHDF-Ad	bronchial
39	chr1:225838400-225842200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:225838400-225842200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:225838600-225842000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:225838600-225842000	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr1:225838600-225842000	Active TSS	Fetal Kidney	kidney
44	chr1:225838600-225842000	Active TSS	HMEC	breast
45	chr1:225838600-225842200	Active TSS	Fetal Muscle Trunk	muscle
46	chr1:225838800-225840000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:225838800-225840200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:225838800-225840400	Active TSS	Fetal Heart	heart
49	chr1:225838800-225841400	Active TSS	Fetal Intestine Small	intestine
50	chr1:225838800-225841600	Active TSS	Duodenum Mucosa	Duodenum

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