Variant report

Variant	esv3419574
Chromosome Location	chr1:228397729-228402327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:506)
CpG islands
(count:733)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr1:228401243-228401328	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:228399752-228400928	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	chr1:228401265-228401396	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr1:228400888-228400928	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr1:228401247-228401364	H1-hESC	embryonic stem cell:	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	chr1:228400194-228400985	K562	blood:	n/a	n/a
14	CBX3	chr1:228401045-228401572	K562	blood:	n/a	n/a
15	CCNT2	chr1:228401152-228401498	K562	blood:	n/a	n/a
16	CCNT2	chr1:228401770-228401921	K562	blood:	n/a	n/a
17	CEBPB	chr1:228397767-228397982	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr1:228401189-228401413	IMR90	lung:	n/a	n/a
19	CEBPB	chr1:228401282-228401391	K562	blood:	n/a	n/a
20	CEBPB	chr1:228401206-228401485	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr1:228401243-228401395	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr1:228401196-228401409	A549	lung:	n/a	n/a
23	CHD1	chr1:228400776-228401951	IMR90	lung:	n/a	n/a
24	CHD2	chr1:228401228-228401428	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr1:228400398-228400976	H1-hESC	embryonic stem cell:	n/a	chr1:228400688-228400698 chr1:228400683-228400693
26	CHD2	chr1:228401212-228401551	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr1:228397752-228397977	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr1:228400717-228400968	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr1:228401212-228401376	K562	blood:	n/a	n/a
30	CREB1	chr1:228401077-228401473	A549	lung:	n/a	n/a
31	CREB1	chr1:228401066-228401635	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr1:228400704-228401652	K562	blood:	n/a	n/a
33	CREB1	chr1:228400960-228401650	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr1:228401171-228401649	GM12878	blood:	n/a	n/a
35	CREB1	chr1:228401188-228401429	A549	lung:	n/a	n/a
36	CTCF	chr1:228401300-228401450	GM12865	blood:	n/a	n/a
37	CTCF	chr1:228401240-228401390	HEK293	kidney:	n/a	n/a
38	CTCF	chr1:228401228-228401481	GM10266	blood:	n/a	n/a
39	CTCF	chr1:228401260-228401410	HMF	breast:	n/a	n/a
40	CTCF	chr1:228401280-228401430	AG04450	lung:	n/a	n/a
41	CTCF	chr1:228401260-228401410	GM12866	blood:	n/a	n/a
42	CTCF	chr1:228399895-228399963	GM13976	blood:	n/a	n/a
43	CTCF	chr1:228401212-228401464	HepG2	liver:	n/a	n/a
44	CTCF	chr1:228401120-228401474	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr1:228401190-228401525	NHEK	skin:	n/a	n/a
46	CTCF	chr1:228400930-228401753	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr1:228401300-228401450	RPTEC	kidney:	n/a	n/a
48	CTCF	chr1:228401246-228401471	GM13976	blood:	n/a	n/a
49	CTCF	chr1:228401082-228401619	MCF-7	breast:	n/a	n/a
50	CTCF	chr1:228401240-228401390	NHEK	skin:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228402305-228402355	PrEC	prostate:	n/a
2	chr1:228402305-228402355	PrEC	prostate:	n/a
3	chr1:228401186-228401236	AG10803	skin:	n/a
4	chr1:228400217-228400267	ECC-1	luminal epithelium:	n/a
5	chr1:228401186-228401236	BJ	skin:	n/a
6	chr1:228400628-228400678	AoSMC	blood vessel:	n/a
7	chr1:228401278-228401328	MCF-7	breast:	n/a
8	chr1:228401758-228401808	HRE	kidney:	n/a
9	chr1:228400217-228400267	SK-N-SH	brain:	n/a
10	chr1:228401278-228401328	NHBE	bronchial:	n/a
11	chr1:228402305-228402355	Caco-2	colon:	n/a
12	chr1:228401186-228401236	NT2-D1	testis:	n/a
13	chr1:228402305-228402355	HPAEpiC	pulmonary alveolar:	n/a
14	chr1:228401186-228401236	GM19239	blood:	n/a
15	chr1:228401186-228401236	MCF-7	breast:	n/a
16	chr1:228401278-228401328	HRE	kidney:	n/a
17	chr1:228400693-228400743	CMK	blood:	n/a
18	chr1:228399562-228399612	AG10803	skin:	n/a
19	chr1:228400693-228400743	A549	lung:	n/a
20	chr1:228397977-228398027	AG09309	skin:	n/a
21	chr1:228400217-228400267	HEEpiC	esophagus:	n/a
22	chr1:228397977-228398027	GM12892	blood:	n/a
23	chr1:228401186-228401236	ECC-1	luminal epithelium:	n/a
24	chr1:228400217-228400267	K562	blood:	n/a
25	chr1:228401758-228401808	SKMC	muscle:	n/a
26	chr1:228400628-228400678	GM12892	blood:	n/a
27	chr1:228401186-228401236	HCF	heart:	n/a
28	chr1:228399562-228399612	PrEC	prostate:	n/a
29	chr1:228400693-228400743	T-47D	breast:	n/a
30	chr1:228401758-228401808	GM12892	blood:	n/a
31	chr1:228397977-228398027	Hepatocyte	liver:	n/a
32	chr1:228402305-228402355	SK-N-MC	brain:	n/a
33	chr1:228400217-228400267	AG09319	gingival:	n/a
34	chr1:228397977-228398027	HRCEpiC	kidney:	n/a
35	chr1:228402305-228402355	HCT-116	colon:	n/a
36	chr1:228401186-228401236	Hepatocyte	liver:	n/a
37	chr1:228401758-228401808	NH-A	brain:	n/a
38	chr1:228401572-228401622	NH-A	brain:	n/a
39	chr1:228401758-228401808	SAEC	small airway:	n/a
40	chr1:228400628-228400678	HCM	heart:	n/a
41	chr1:228397977-228398027	PANC-1	pancreas:	n/a
42	chr1:228400628-228400678	SK-N-SH_RA	brain:	n/a
43	chr1:228400693-228400743	HL-60	blood:	n/a
44	chr1:228400419-228400469	ProgFib	skin:	n/a
45	chr1:228402036-228402086	GM06990	blood:	n/a
46	chr1:228401186-228401236	HCT-116	colon:	n/a
47	chr1:228397977-228398027	NH-A	brain:	n/a
48	chr1:228397977-228398027	NT2-D1	testis:	n/a
49	chr1:228402305-228402355	HEK293	kidney:	embryo
50	chr1:228402305-228402355	NH-A	brain:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228400032..228401961-chr1:228675104..228677391,2	MCF-7	breast:
2	chr1:228399084..228400867-chr1:228463770..228467227,3	K562	blood:
3	chr1:228352301..228356055-chr1:228400478..228402839,5	K562	blood:
4	chr1:228395695..228398626-chr1:228460759..228464017,3	K562	blood:
5	chr1:228399534..228402324-chr1:228461653..228463776,2	MCF-7	breast:
6	chr1:228401876..228404808-chr1:228460949..228463356,3	K562	blood:
7	chr1:228399724..228401498-chr1:228644939..228647172,2	MCF-7	breast:
8	chr1:228379718..228382551-chr1:228396432..228398212,3	K562	blood:
9	chr1:228397487..228399234-chr1:228400392..228402021,2	K562	blood:
10	chr1:228400987..228403639-chr1:228644070..228647036,3	K562	blood:
11	chr1:228401076..228403639-chr1:228645192..228647036,2	K562	blood:
12	chr1:228400809..228401396-chr19:36631414..36632120,2	Hela-S3	cervix:
13	chr1:228352180..228354320-chr1:228400730..228402843,3	MCF-7	breast:
14	chr1:228399573..228401373-chr1:228480199..228482605,2	K562	blood:
15	chr1:228270338..228271968-chr1:228400103..228402238,2	MCF-7	breast:
16	chr1:228360767..228363057-chr1:228399837..228402220,2	MCF-7	breast:
17	chr1:228396809..228398324-chr1:228556061..228558817,2	K562	blood:
18	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
ENSG00000143761	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000269890	chromatin interactions
ENSG00000154370	chromatin interactions
ENSG00000168159	chromatin interactions
ENSG00000154358	chromatin interactions
ENSG00000269934	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000126247	chromatin interactions
ENSG00000196890	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560467711	chr1:228397747-228397748	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs74142653	chr1:228397752-228397753	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs191891438	chr1:228397756-228397757	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs531848328	chr1:228397759-228397760	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs369730824	chr1:228397789-228397790	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs151162687	chr1:228397793-228397794	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs571793052	chr1:228397809-228397810	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs72757829	chr1:228397810-228397811	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs548102528	chr1:228397814-228397815	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs549295330	chr1:228397880-228397881	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs61042747	chr1:228397881-228397882	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535391943	chr1:228398092-228398093	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs555422674	chr1:228398121-228398122	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs371877359	chr1:228398126-228398127	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs562714004	chr1:228398149-228398150	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs140111274	chr1:228398169-228398170	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs947085	chr1:228398192-228398193	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577763636	chr1:228398194-228398195	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs74142654	chr1:228398233-228398234	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34957811	chr1:228398260-228398261	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs35843500	chr1:228398262-228398263	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs2313601	chr1:228398318-228398319	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs71650382	chr1:228398376-228398377	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs551216725	chr1:228398454-228398455	Weak transcription Enhancers Flanking Bivalent TSS/Enh 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	rs573621852	chr1:228398456-228398457	Weak transcription Enhancers Flanking Bivalent TSS/Enh 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	rs10799471	chr1:228398546-228398547	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs562885012	chr1:228398586-228398587	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs576388765	chr1:228398622-228398623	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs376036023	chr1:228398645-228398646	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs533571220	chr1:228398654-228398655	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs547331215	chr1:228398704-228398705	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147649280	chr1:228398757-228398758	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12024649	chr1:228398777-228398778	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs142271463	chr1:228398818-228398819	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs183325075	chr1:228398849-228398850	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs367979543	chr1:228398854-228398855	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535783032	chr1:228398900-228398901	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs550239234	chr1:228398912-228398913	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568812109	chr1:228398914-228398915	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs537489579	chr1:228398946-228398947	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs386640005	chr1:228398950-228398951	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs12726781	chr1:228398951-228398952	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs12745416	chr1:228398996-228398997	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs146037419	chr1:228399011-228399012	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	2 gene(s)	Overlapped CNVs	n/a
45	rs553566750	chr1:228399050-228399051	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	2 gene(s)	Overlapped CNVs	n/a
46	rs573535296	chr1:228399058-228399059	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	2 gene(s)	Overlapped CNVs	n/a
47	rs536119870	chr1:228399083-228399084	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	2 gene(s)	Overlapped CNVs	n/a
48	rs11799681	chr1:228399123-228399124	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)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs111275189	chr1:228399150-228399151	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
50	rs576377720	chr1:228399153-228399154	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

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:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228394600-228400200	Weak transcription	Fetal Lung	lung
2	chr1:228395000-228398400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:228395600-228398600	Active TSS	Left Ventricle	heart
4	chr1:228395600-228399400	Weak transcription	Lung	lung
5	chr1:228395600-228400200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:228395800-228398400	Active TSS	Psoas Muscle	Psoas
7	chr1:228395800-228398400	Active TSS	Right Atrium	heart
8	chr1:228395800-228405200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
9	chr1:228396200-228397800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:228396200-228398400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:228396200-228398800	Weak transcription	Fetal Intestine Small	intestine
12	chr1:228396200-228400200	Weak transcription	Pancreas	Pancrea
13	chr1:228396400-228399000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:228397000-228397800	Flanking Active TSS	Hela-S3	cervix
15	chr1:228397000-228398200	Weak transcription	Spleen	Spleen
16	chr1:228397000-228400400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:228397200-228397800	Active TSS	HSMMtube	muscle
18	chr1:228397200-228399000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:228397200-228401000	Enhancers	Fetal Heart	heart
20	chr1:228397400-228397800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr1:228397400-228398400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
22	chr1:228397400-228398600	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr1:228397600-228397800	Flanking Active TSS	Right Ventricle	heart
24	chr1:228397600-228398000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:228397600-228398200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:228397600-228398200	Enhancers	Esophagus	oesophagus
27	chr1:228397600-228398400	Enhancers	A549	lung
28	chr1:228397600-228398400	Enhancers	HSMM	muscle
29	chr1:228397600-228400200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:228397800-228398000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:228397800-228398000	Active TSS	Right Ventricle	heart
32	chr1:228397800-228398200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:228397800-228398200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:228397800-228398200	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr1:228397800-228399000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:228397800-228399400	Enhancers	Hela-S3	cervix
37	chr1:228397800-228400800	Weak transcription	HSMMtube	muscle
38	chr1:228398000-228398200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:228398000-228398600	Flanking Active TSS	Right Ventricle	heart
40	chr1:228398200-228398400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:228398200-228398400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:228398200-228398400	Bivalent Enhancer	Fetal Stomach	stomach
43	chr1:228398200-228398400	Enhancers	Spleen	Spleen
44	chr1:228398200-228399000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr1:228398200-228399400	Weak transcription	Esophagus	oesophagus
46	chr1:228398200-228400400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:228398400-228398600	Enhancers	Brain Anterior Caudate	brain
48	chr1:228398400-228398800	Flanking Active TSS	Psoas Muscle	Psoas
49	chr1:228398400-228398800	Weak transcription	Spleen	Spleen
50	chr1:228398400-228399200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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