Variant report

Variant	esv3435512
Chromosome Location	chr1:225838929-225842227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:449)
CpG islands
(count:549)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr1:225841286-225841826	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr1:225841086-225841925	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	BHLHE40	chr1:225841274-225841682	A549	lung:	n/a	chr1:225841474-225841490
9	BRCA1	chr1:225840762-225840767	HepG2	liver:	n/a	n/a
10	BRCA1	chr1:225839259-225840054	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr1:225841395-225841584	HepG2	liver:	n/a	n/a
12	CCNT2	chr1:225841317-225841692	K562	blood:	n/a	n/a
13	CEBPB	chr1:225841558-225841790	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr1:225840632-225840851	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr1:225841523-225841773	HepG2	liver:	n/a	n/a
16	CEBPB	chr1:225839567-225840150	A549	lung:	n/a	chr1:225839739-225839751
17	CEBPB	chr1:225839073-225839868	A549	lung:	n/a	chr1:225839739-225839751
18	CEBPB	chr1:225840738-225840919	HepG2	liver:	n/a	n/a
19	CEBPB	chr1:225841470-225842164	A549	lung:	n/a	n/a
20	CEBPB	chr1:225839036-225839768	IMR90	lung:	n/a	chr1:225839739-225839751
21	CEBPB	chr1:225838999-225839885	Hela-S3	cervix:	n/a	chr1:225839739-225839751
22	CEBPB	chr1:225841455-225841884	IMR90	lung:	n/a	n/a
23	CEBPD	chr1:225840699-225841023	HepG2	liver:	n/a	n/a
24	CEBPD	chr1:225840599-225841365	HepG2	liver:	n/a	n/a
25	CHD1	chr1:225838523-225839040	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD1	chr1:225842024-225842301	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr1:225841335-225841789	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr1:225839300-225840704	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr1:225839621-225840387	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr1:225840644-225841097	Hela-S3	cervix:	n/a	chr1:225840811-225840821
31	CHD2	chr1:225840957-225841932	H1-hESC	embryonic stem cell:	n/a	chr1:225841790-225841800
32	CHD2	chr1:225840615-225841753	HepG2	liver:	n/a	chr1:225840811-225840821
33	CHD2	chr1:225839585-225840471	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr1:225839712-225839990	HepG2	liver:	n/a	n/a
35	CREB1	chr1:225840439-225841956	HepG2	liver:	n/a	chr1:225841631-225841644
36	CREB1	chr1:225840330-225841904	A549	lung:	n/a	chr1:225841631-225841644
37	CTCF	chr1:225840520-225840670	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr1:225841460-225841610	A549	lung:	n/a	n/a
39	CTCF	chr1:225840440-225840590	HEK293	kidney:	n/a	chr1:225840465-225840474
40	CTCF	chr1:225841360-225841510	HMEC	breast:	n/a	n/a
41	CTCF	chr1:225840580-225840730	AG04449	skin:	n/a	n/a
42	CTCF	chr1:225839760-225839910	HEK293	kidney:	n/a	n/a
43	CTCF	chr1:225840360-225840510	HCPEpiC	choroid plexus:	n/a	chr1:225840465-225840474
44	CTCF	chr1:225839700-225839850	AG04449	skin:	n/a	n/a
45	CTCF	chr1:225841489-225841493	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:225840460-225840610	HRPEpiC	eye:	n/a	chr1:225840465-225840474
47	CTCF	chr1:225839740-225839890	SAEC	small airway:	n/a	n/a
48	CTCF	chr1:225840480-225840630	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr1:225839787-225839850	A549	lung:	n/a	n/a
50	CTCF	chr1:225839821-225839857	Medullo	brain:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:225840508-225840558	HNPCEpiC	eye:	n/a
2	chr1:225841650-225841700	SK-N-SH_RA	brain:	n/a
3	chr1:225840508-225840558	HUVEC	blood vessel:	n/a
4	chr1:225840831-225840881	HIPEpiC	eye:	n/a
5	chr1:225841794-225841844	NH-A	brain:	n/a
6	chr1:225840109-225840159	SK-N-SH	brain:	n/a
7	chr1:225840520-225840570	AG04449	skin:	fetal
8	chr1:225841605-225841655	MCF10A-Er-Src	breast:	n/a
9	chr1:225841201-225841251	IMR90	lung:	fetal
10	chr1:225840520-225840570	HepG2	liver:	n/a
11	chr1:225840109-225840159	SK-N-MC	brain:	n/a
12	chr1:225841201-225841251	NH-A	brain:	n/a
13	chr1:225840508-225840558	PFSK-1	brain:	n/a
14	chr1:225841605-225841655	AoSMC	blood vessel:	n/a
15	chr1:225840520-225840570	ovcar-3	ovarian:	n/a
16	chr1:225840520-225840570	HMEC	breast:	n/a
17	chr1:225840376-225840426	HepG2	liver:	n/a
18	chr1:225840109-225840159	ProgFib	skin:	n/a
19	chr1:225840831-225840881	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:225841201-225841251	PrEC	prostate:	n/a
21	chr1:225841201-225841251	HEK293	kidney:	embryo
22	chr1:225840508-225840558	NHDF-neo	bronchial:	n/a
23	chr1:225841605-225841655	IMR90	lung:	fetal
24	chr1:225840520-225840570	AG10803	skin:	n/a
25	chr1:225841794-225841844	AG10803	skin:	n/a
26	chr1:225840831-225840881	RPTEC	kidney:	n/a
27	chr1:225841794-225841844	GM12878	blood:	n/a
28	chr1:225840109-225840159	NT2-D1	testis:	n/a
29	chr1:225840109-225840159	NHDF-neo	bronchial:	n/a
30	chr1:225840508-225840558	HCM	heart:	n/a
31	chr1:225840831-225840881	Jurkat	blood:	n/a
32	chr1:225840508-225840558	HRCEpiC	kidney:	n/a
33	chr1:225840508-225840558	GM19239	blood:	n/a
34	chr1:225840831-225840881	SKMC	muscle:	n/a
35	chr1:225841794-225841844	Hepatocyte	liver:	n/a
36	chr1:225840831-225840881	BE2_C	brain:	n/a
37	chr1:225841201-225841251	GM12891	blood:	n/a
38	chr1:225841794-225841844	AG04449	skin:	fetal
39	chr1:225840376-225840426	CMK	blood:	n/a
40	chr1:225840376-225840426	SAEC	small airway:	n/a
41	chr1:225840109-225840159	HRPEpiC	eye:	n/a
42	chr1:225841605-225841655	Jurkat	blood:	n/a
43	chr1:225840520-225840570	HEK293	kidney:	embryo
44	chr1:225840508-225840558	PANC-1	pancreas:	n/a
45	chr1:225840109-225840159	LNCaP	prostate:	n/a
46	chr1:225840376-225840426	HIPEpiC	eye:	n/a
47	chr1:225840109-225840159	Hepatocyte	liver:	n/a
48	chr1:225840831-225840881	NB4	blood:	n/a
49	chr1:225841650-225841700	AG09309	skin:	n/a
50	chr1:225840831-225840881	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:225766054..225768167-chr1:225839556..225842131,2	MCF-7	breast:
2	chr1:225839775..225842863-chr1:225886341..225888955,3	MCF-7	breast:
3	chr1:225811629..225814682-chr1:225837317..225840214,3	MCF-7	breast:
4	chr1:225842059..225843604-chr1:225963580..225966384,2	K562	blood:
5	chr1:225839309..225842570-chr1:226062972..226068660,6	MCF-7	breast:
6	chr1:225837427..225840377-chr1:226110786..226113665,3	MCF-7	breast:
7	chr1:225841590..225843627-chr1:225887293..225890031,4	MCF-7	breast:
8	chr1:225839693..225840682-chr19:13049150..13050042,2	Hela-S3	cervix:
9	chr1:225838732..225840997-chr1:226248323..226251215,2	MCF-7	breast:
10	chr1:225692749..225695160-chr1:225840876..225842568,2	MCF-7	breast:
11	chr1:225840996..225843850-chr1:225947438..225950251,2	MCF-7	breast:
12	chr1:225841158..225843185-chr1:226308432..226310542,2	MCF-7	breast:
13	chr1:225839962..225842492-chr1:226249684..226252539,2	MCF-7	breast:
14	chr1:225837738..225841787-chr1:225965241..225967265,3	MCF-7	breast:
15	chr1:225839340..225843768-chr1:225964006..225968066,9	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
ENSG00000272562	chromatin interactions
ENSG00000143811	chromatin interactions
ENSG00000196187	chromatin interactions
ENSG00000179218	chromatin interactions
ENSG00000143742	chromatin interactions
ENSG00000163041	chromatin interactions
ENSG00000154380	chromatin interactions
ENSG00000227496	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372073437	chr1:225838978-225838979	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs201921824	chr1:225838995-225838996	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs542478163	chr1:225839017-225839018	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs563915401	chr1:225839019-225839020	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs199884730	chr1:225839053-225839054	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs189883322	chr1:225839059-225839060	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs546396921	chr1:225839075-225839076	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs183648685	chr1:225839136-225839137	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs558015376	chr1:225839147-225839148	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs138699852	chr1:225839167-225839168	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs375433599	chr1:225839168-225839169	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs55657934	chr1:225839197-225839198	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546387127	chr1:225839254-225839255	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs189144843	chr1:225839326-225839327	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs368567152	chr1:225839334-225839335	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs528896910	chr1:225839347-225839348	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs111623924	chr1:225839350-225839351	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs550586997	chr1:225839365-225839366	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs562462758	chr1:225839372-225839373	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs112320104	chr1:225839400-225839401	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs568790525	chr1:225839456-225839457	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs539397783	chr1:225839457-225839458	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs557522770	chr1:225839459-225839460	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs113339152	chr1:225839474-225839475	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs535072297	chr1:225839476-225839477	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs531309702	chr1:225839490-225839491	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs543445200	chr1:225839524-225839525	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs574738935	chr1:225839540-225839541	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs551057790	chr1:225839571-225839572	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs192836498	chr1:225839647-225839648	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs557417929	chr1:225839657-225839658	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs570746446	chr1:225839660-225839661	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs185227271	chr1:225839710-225839711	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs34666347	chr1:225839734-225839735	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225815800-225839000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:225825600-225839600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:225826200-225839400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:225830400-225839200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:225830400-225839200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:225830400-225839600	Weak transcription	Gastric	stomach
7	chr1:225834200-225839200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:225834800-225839200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:225836200-225839200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:225836200-225840400	Active TSS	Right Atrium	heart
11	chr1:225836200-225842000	Active TSS	Aorta	Aorta
12	chr1:225836600-225841400	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:225836600-225842200	Active TSS	Right Ventricle	heart
14	chr1:225836600-225842200	Active TSS	Stomach Smooth Muscle	stomach
15	chr1:225836800-225842200	Active TSS	NHLF	lung
16	chr1:225837000-225842000	Active TSS	Ovary	ovary
17	chr1:225837000-225842800	Active TSS	Psoas Muscle	Psoas
18	chr1:225837200-225839000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:225837200-225841800	Active TSS	Osteobl	bone
20	chr1:225837200-225842800	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr1:225837400-225839000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:225837400-225839200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr1:225837400-225842200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:225837600-225841600	Active TSS	Fetal Muscle Leg	muscle
25	chr1:225837600-225841800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:225837600-225842000	Active TSS	Fetal Lung	lung
27	chr1:225837600-225842000	Active TSS	Rectal Smooth Muscle	rectum
28	chr1:225837600-225842400	Active TSS	H1 Cell Line	embryonic stem cell
29	chr1:225838000-225839200	Weak transcription	Brain Anterior Caudate	brain
30	chr1:225838000-225841400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:225838000-225841800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:225838000-225841800	Active TSS	Colon Smooth Muscle	Colon
33	chr1:225838000-225842000	Active TSS	Fetal Stomach	stomach
34	chr1:225838000-225842200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:225838000-225842400	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:225838000-225842400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr1:225838000-225842800	Active TSS	A549	lung
38	chr1:225838200-225839200	Active TSS	Adipose Nuclei	Adipose
39	chr1:225838200-225839200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:225838200-225839400	Active TSS	HepG2	liver
41	chr1:225838200-225839600	Active TSS	Brain Germinal Matrix	brain
42	chr1:225838200-225841600	Active TSS	Fetal Brain Female	brain
43	chr1:225838200-225841800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:225838200-225841800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:225838200-225842000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:225838200-225842000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:225838200-225842000	Active TSS	NH-A	brain
48	chr1:225838200-225842200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:225838200-225842200	Active TSS	HSMM	muscle
50	chr1:225838200-225842200	Active TSS	HSMMtube	muscle

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