Variant report

Variant	esv3361766
Chromosome Location	chr1:228399154-228401702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:452)
CpG islands
(count:489)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:452 , 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	ATF3	chr1:228401191-228401451	K562	blood:	n/a	n/a
2	BACH1	chr1:228399752-228400928	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:228401243-228401328	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr1:228401080-228401459	A549	lung:	n/a	n/a
5	BCLAF1	chr1:228401157-228401400	GM12878	blood:	n/a	n/a
6	BHLHE40	chr1:228401203-228401535	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:228401158-228401469	K562	blood:	n/a	n/a
8	BRCA1	chr1:228400888-228400928	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr1:228401247-228401364	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr1:228401265-228401396	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr1:228401269-228401307	GM12878	blood:	n/a	n/a
12	CBX3	chr1:228401095-228401450	K562	blood:	n/a	n/a
13	CBX3	chr1:228401045-228401572	K562	blood:	n/a	n/a
14	CBX3	chr1:228400194-228400985	K562	blood:	n/a	n/a
15	CCNT2	chr1:228401152-228401498	K562	blood:	n/a	n/a
16	CEBPB	chr1:228401243-228401395	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr1:228401189-228401413	IMR90	lung:	n/a	n/a
18	CEBPB	chr1:228401282-228401391	K562	blood:	n/a	n/a
19	CEBPB	chr1:228401206-228401485	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr1:228401196-228401409	A549	lung:	n/a	n/a
21	CHD1	chr1:228400776-228401951	IMR90	lung:	n/a	n/a
22	CHD2	chr1:228401228-228401428	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr1:228400398-228400976	H1-hESC	embryonic stem cell:	n/a	chr1:228400688-228400698 chr1:228400683-228400693
24	CHD2	chr1:228400717-228400968	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr1:228401212-228401551	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr1:228401212-228401376	K562	blood:	n/a	n/a
27	CREB1	chr1:228401066-228401635	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr1:228401188-228401429	A549	lung:	n/a	n/a
29	CREB1	chr1:228400960-228401650	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr1:228401077-228401473	A549	lung:	n/a	n/a
31	CREB1	chr1:228401171-228401649	GM12878	blood:	n/a	n/a
32	CREB1	chr1:228400704-228401652	K562	blood:	n/a	n/a
33	CTCF	chr1:228401260-228401410	AoAF	blood vessel:	n/a	n/a
34	CTCF	chr1:228401218-228401484	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:228401222-228401516	LNCaP	prostate:	n/a	n/a
36	CTCF	chr1:228401265-228401451	ECC-1	luminal epithelium:	n/a	n/a
37	CTCF	chr1:228401300-228401450	GM12872	blood:	n/a	n/a
38	CTCF	chr1:228401200-228401428	A549	lung:	n/a	n/a
39	CTCF	chr1:228401227-228401483	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr1:228400780-228400930	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr1:228401263-228401477	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr1:228401300-228401450	HFF	foreskin:	n/a	n/a
43	CTCF	chr1:228401260-228401410	GM12868	blood:	n/a	n/a
44	CTCF	chr1:228401280-228401430	GM12865	blood:	n/a	n/a
45	CTCF	chr1:228401280-228401430	AG04449	skin:	n/a	n/a
46	CTCF	chr1:228400930-228401753	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr1:228401240-228401390	K562	blood:	n/a	n/a
48	CTCF	chr1:228401188-228401446	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr1:228401260-228401410	HPF	lung:	n/a	n/a
50	CTCF	chr1:228401280-228401430	HMEC	breast:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228399562-228399612	SKMC	muscle:	n/a
2	chr1:228399562-228399612	SKMC	muscle:	n/a
3	chr1:228401278-228401328	U87	brain:	n/a
4	chr1:228401572-228401622	LNCaP	prostate:	n/a
5	chr1:228399562-228399612	NHDF-neo	bronchial:	n/a
6	chr1:228400217-228400267	BJ	skin:	n/a
7	chr1:228399562-228399612	HepG2	liver:	n/a
8	chr1:228401278-228401328	SAEC	small airway:	n/a
9	chr1:228400217-228400267	ProgFib	skin:	n/a
10	chr1:228400628-228400678	Caco-2	colon:	n/a
11	chr1:228401186-228401236	H1-hESC	embryonic stem cell:	embryo
12	chr1:228400628-228400678	HepG2	liver:	n/a
13	chr1:228400693-228400743	NT2-D1	testis:	n/a
14	chr1:228400419-228400469	ProgFib	skin:	n/a
15	chr1:228401572-228401622	Hela-S3	cervix:	n/a
16	chr1:228401278-228401328	GM12892	blood:	n/a
17	chr1:228400628-228400678	NT2-D1	testis:	n/a
18	chr1:228400628-228400678	T-47D	breast:	n/a
19	chr1:228400419-228400469	CMK	blood:	n/a
20	chr1:228400628-228400678	PrEC	prostate:	n/a
21	chr1:228401278-228401328	SKMC	muscle:	n/a
22	chr1:228400628-228400678	SAEC	small airway:	n/a
23	chr1:228400419-228400469	Hela-S3	cervix:	n/a
24	chr1:228401572-228401622	NHBE	bronchial:	n/a
25	chr1:228401186-228401236	BJ	skin:	n/a
26	chr1:228399562-228399612	PFSK-1	brain:	n/a
27	chr1:228401572-228401622	CMK	blood:	n/a
28	chr1:228401278-228401328	HCM	heart:	n/a
29	chr1:228399562-228399612	SK-N-MC	brain:	n/a
30	chr1:228400628-228400678	SK-N-SH	brain:	n/a
31	chr1:228400419-228400469	HCPEpiC	choroid plexus:	n/a
32	chr1:228401572-228401622	GM12878	blood:	n/a
33	chr1:228401572-228401622	HepG2	liver:	n/a
34	chr1:228400419-228400469	SK-N-MC	brain:	n/a
35	chr1:228401278-228401328	H1-hESC	embryonic stem cell:	embryo
36	chr1:228401278-228401328	PANC-1	pancreas:	n/a
37	chr1:228401572-228401622	GM12892	blood:	n/a
38	chr1:228400693-228400743	HRCEpiC	kidney:	n/a
39	chr1:228401186-228401236	SK-N-SH	brain:	n/a
40	chr1:228401572-228401622	HMEC	breast:	n/a
41	chr1:228401186-228401236	AG04449	skin:	fetal
42	chr1:228400693-228400743	Hepatocyte	liver:	n/a
43	chr1:228401186-228401236	HCT-116	colon:	n/a
44	chr1:228400217-228400267	GM12891	blood:	n/a
45	chr1:228401572-228401622	MCF-7	breast:	n/a
46	chr1:228399562-228399612	GM19239	blood:	n/a
47	chr1:228400217-228400267	NHDF-neo	bronchial:	n/a
48	chr1:228401278-228401328	NH-A	brain:	n/a
49	chr1:228400693-228400743	HRPEpiC	eye:	n/a
50	chr1:228400693-228400743	IMR90	lung:	fetal

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228401076..228403639-chr1:228645192..228647036,2	K562	blood:
2	chr1:228360767..228363057-chr1:228399837..228402220,2	MCF-7	breast:
3	chr1:228352301..228356055-chr1:228400478..228402839,5	K562	blood:
4	chr1:228399084..228400867-chr1:228463770..228467227,3	K562	blood:
5	chr1:228400809..228401396-chr19:36631414..36632120,2	Hela-S3	cervix:
6	chr1:228399534..228402324-chr1:228461653..228463776,2	MCF-7	breast:
7	chr1:228400032..228401961-chr1:228675104..228677391,2	MCF-7	breast:
8	chr1:228399724..228401498-chr1:228644939..228647172,2	MCF-7	breast:
9	chr1:228400987..228403639-chr1:228644070..228647036,3	K562	blood:
10	chr1:228352180..228354320-chr1:228400730..228402843,3	MCF-7	breast:
11	chr1:228270338..228271968-chr1:228400103..228402238,2	MCF-7	breast:
12	chr1:228397487..228399234-chr1:228400392..228402021,2	K562	blood:
13	chr1:228399573..228401373-chr1:228480199..228482605,2	K562	blood:
14	chr1:228400118..228403034-chr1:228591844..228593875,2	MCF-7	breast:

No data

Variant related genes	Relation type
C1orf145	TF binding region
OBSCN	TF binding region
C1orf145	CpG island
OBSCN	CpG island
ENSG00000162913	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000126247	chromatin interactions
ENSG00000154370	chromatin interactions
ENSG00000269934	chromatin interactions
ENSG00000143761	chromatin interactions
ENSG00000168159	chromatin interactions
ENSG00000154358	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000269890	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545085228	chr1:228399180-228399181	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs565336123	chr1:228399214-228399215	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs372119785	chr1:228399224-228399225	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs541600360	chr1:228399228-228399229	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs188334893	chr1:228399260-228399261	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374145857	chr1:228399291-228399292	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138837985	chr1:228399314-228399315	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550445490	chr1:228399387-228399388	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs74142656	chr1:228399421-228399422	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531295082	chr1:228399472-228399473	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11804508	chr1:228399482-228399483	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs191837710	chr1:228399519-228399520	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200696787	chr1:228399551-228399552	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs370650364	chr1:228399556-228399557	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs373711216	chr1:228399572-228399573	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs367580537	chr1:228399575-228399576	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs371338112	chr1:228399584-228399585	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs371783634	chr1:228399614-228399615	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs375311214	chr1:228399619-228399620	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs114375717	chr1:228399628-228399629	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs117484136	chr1:228399671-228399672	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs567122736	chr1:228399684-228399685	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs375685401	chr1:228399691-228399692	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs369422629	chr1:228399695-228399696	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs556386335	chr1:228399710-228399711	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs55971985	chr1:228399766-228399767	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs538993456	chr1:228399784-228399785	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs11582369	chr1:228399799-228399800	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377006803	chr1:228399851-228399852	Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs541514255	chr1:228399919-228399920	Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs555146765	chr1:228399980-228399981	Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs141283602	chr1:228400063-228400064	Bivalent/Poised TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs543663736	chr1:228400076-228400077	Bivalent/Poised TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs563959105	chr1:228400153-228400154	Bivalent/Poised TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs532709986	chr1:228400179-228400180	Bivalent/Poised TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs546510424	chr1:228400190-228400191	Bivalent/Poised TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs564518456	chr1:228400201-228400202	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs199979779	chr1:228400211-228400212	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs547083500	chr1:228400215-228400216	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs531323105	chr1:228400217-228400218	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs373319553	chr1:228400238-228400239	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs528218022	chr1:228400262-228400263	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs377474179	chr1:228400271-228400272	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs371182058	chr1:228400297-228400298	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs373634674	chr1:228400366-228400367	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs376838633	chr1:228400378-228400379	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs370781461	chr1:228400399-228400400	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs183891173	chr1:228400400-228400401	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs373890356	chr1:228400443-228400444	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs368072203	chr1:228400449-228400450	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228394600-228400200	Weak transcription	Fetal Lung	lung
2	chr1:228395600-228399400	Weak transcription	Lung	lung
3	chr1:228395600-228400200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:228395800-228405200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
5	chr1:228396200-228400200	Weak transcription	Pancreas	Pancrea
6	chr1:228397000-228400400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:228397200-228401000	Enhancers	Fetal Heart	heart
8	chr1:228397600-228400200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:228397800-228399400	Enhancers	Hela-S3	cervix
10	chr1:228397800-228400800	Weak transcription	HSMMtube	muscle
11	chr1:228398200-228399400	Weak transcription	Esophagus	oesophagus
12	chr1:228398200-228400400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:228398400-228399200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr1:228398400-228399400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:228398400-228400200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:228398400-228400200	Weak transcription	Right Atrium	heart
17	chr1:228398400-228400400	Weak transcription	A549	lung
18	chr1:228398400-228400400	Weak transcription	HSMM	muscle
19	chr1:228398800-228399600	Strong transcription	Fetal Intestine Small	intestine
20	chr1:228398800-228399600	Enhancers	Left Ventricle	heart
21	chr1:228398800-228402000	Active TSS	Psoas Muscle	Psoas
22	chr1:228399000-228399600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:228399000-228399600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:228399000-228399600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr1:228399000-228399600	Flanking Active TSS	Spleen	Spleen
26	chr1:228399000-228400000	Genic enhancers	Right Ventricle	heart
27	chr1:228399000-228400200	Weak transcription	Brain Anterior Caudate	brain
28	chr1:228399000-228400200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:228399000-228400600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
30	chr1:228399200-228399600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
31	chr1:228399400-228399600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:228399400-228399600	Enhancers	Lung	lung
33	chr1:228399400-228399800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:228399400-228400200	Enhancers	Esophagus	oesophagus
35	chr1:228399400-228400200	Weak transcription	Hela-S3	cervix
36	chr1:228399600-228399800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:228399600-228399800	Weak transcription	Lung	lung
38	chr1:228399600-228400200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:228399600-228400200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:228399600-228400200	Weak transcription	Fetal Intestine Small	intestine
41	chr1:228399600-228400800	Genic enhancers	Left Ventricle	heart
42	chr1:228399600-228400800	Enhancers	Spleen	Spleen
43	chr1:228399800-228400000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:228399800-228400000	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr1:228399800-228400200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr1:228399800-228400400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:228399800-228400400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:228399800-228400400	Genic enhancers	Lung	lung
49	chr1:228399800-228400600	Bivalent Enhancer	Fetal Brain Male	brain
50	chr1:228400000-228400200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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