Variant report

Variant	esv3355722
Chromosome Location	chr12:63327210-63330258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:63328780-63329249	HepG2	liver:	n/a	n/a
2	ATF2	chr12:63328915-63329240	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr12:63328780-63329266	K562	blood:	n/a	chr12:63328924-63328933 chr12:63328827-63328836
4	ATF3	chr12:63328829-63329287	H1-hESC	embryonic stem cell:	n/a	chr12:63328924-63328933
5	ATF3	chr12:63328522-63329137	A549	lung:	n/a	chr12:63328924-63328933 chr12:63328827-63328836
6	ATF3	chr12:63328821-63329274	H1-hESC	embryonic stem cell:	n/a	chr12:63328924-63328933 chr12:63328827-63328836
7	BACH1	chr12:63327254-63327630	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr12:63328322-63329341	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr12:63328759-63329150	A549	lung:	n/a	chr12:63329124-63329137 chr12:63328884-63328897 chr12:63329075-63329083 chr12:63328890-63328899 chr12:63328891-63328904
10	BHLHE40	chr12:63326926-63329361	K562	blood:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328667-63328683 chr12:63328526-63328542 chr12:63328523-63328539 chr12:63328885-63328901
11	BHLHE40	chr12:63328346-63329308	HepG2	liver:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328667-63328683 chr12:63328526-63328542 chr12:63328523-63328539 chr12:63328885-63328901
12	BHLHE40	chr12:63328606-63329178	GM12878	blood:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328667-63328683 chr12:63328885-63328901
13	BRCA1	chr12:63328757-63329251	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr12:63328926-63329271	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr12:63328802-63329119	HepG2	liver:	n/a	n/a
16	CBX3	chr12:63328775-63329248	K562	blood:	n/a	n/a
17	CBX3	chr12:63328676-63329433	HCT-116	colon:	n/a	n/a
18	CBX3	chr12:63328037-63328421	K562	blood:	n/a	n/a
19	CCNT2	chr12:63328126-63329198	K562	blood:	n/a	chr12:63328979-63328988 chr12:63329029-63329038 chr12:63328827-63328836
20	CEBPB	chr12:63328716-63329090	HepG2	liver:	n/a	n/a
21	CEBPB	chr12:63328865-63329451	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr12:63328789-63329404	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr12:63328159-63328561	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr12:63328958-63329030	K562	blood:	n/a	n/a
25	CEBPD	chr12:63328631-63329163	HepG2	liver:	n/a	n/a
26	CHD1	chr12:63328223-63328420	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr12:63327829-63327958	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr12:63328076-63328208	K562	blood:	n/a	n/a
29	CHD2	chr12:63328199-63329295	Hela-S3	cervix:	n/a	chr12:63328717-63328727
30	CHD2	chr12:63328742-63329289	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr12:63327150-63327266	K562	blood:	n/a	n/a
32	CHD2	chr12:63327166-63327327	HepG2	liver:	n/a	chr12:63327280-63327287
33	CHD2	chr12:63328668-63329216	K562	blood:	n/a	chr12:63328717-63328727
34	CHD2	chr12:63328754-63329197	HepG2	liver:	n/a	n/a
35	CHD2	chr12:63328417-63328439	HepG2	liver:	n/a	n/a
36	CHD2	chr12:63326860-63327484	H1-hESC	embryonic stem cell:	n/a	chr12:63327280-63327287
37	CHD2	chr12:63328177-63328204	HepG2	liver:	n/a	n/a
38	CHD2	chr12:63328838-63329187	GM12878	blood:	n/a	n/a
39	CREB1	chr12:63328786-63329339	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr12:63328185-63329187	A549	lung:	n/a	n/a
41	CREB1	chr12:63328598-63329316	HepG2	liver:	n/a	n/a
42	CTBP2	chr12:63328080-63329265	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTBP2	chr12:63327020-63327863	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr12:63328920-63329070	GM12867	blood:	n/a	n/a
45	CTCF	chr12:63328870-63329223	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:63327845-63328345	K562	blood:	n/a	n/a
47	CTCF	chr12:63328920-63329070	GM12864	blood:	n/a	n/a
48	CTCF	chr12:63328959-63329145	Medullo	brain:	n/a	n/a
49	CTCF	chr12:63328940-63329090	HEK293	kidney:	n/a	n/a
50	CTCF	chr12:63328940-63329090	GM12873	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:63327235-63327285	AG10803	skin:	n/a
2	chr12:63328783-63328833	NB4	blood:	n/a
3	chr12:63328556-63328606	HMEC	breast:	n/a
4	chr12:63328707-63328757	AG04450	lung:	fetal
5	chr12:63328783-63328833	HCF	heart:	n/a
6	chr12:63328705-63328755	HCT-116	colon:	n/a
7	chr12:63327207-63327257	AG09319	gingival:	n/a
8	chr12:63327207-63327257	SK-N-MC	brain:	n/a
9	chr12:63328969-63329019	HNPCEpiC	eye:	n/a
10	chr12:63328705-63328755	MCF10A-Er-Src	breast:	n/a
11	chr12:63328158-63328208	HCM	heart:	n/a
12	chr12:63328556-63328606	IMR90	lung:	fetal
13	chr12:63327235-63327285	HUVEC	blood vessel:	n/a
14	chr12:63329118-63329168	CMK	blood:	n/a
15	chr12:63328705-63328755	GM12891	blood:	n/a
16	chr12:63328705-63328755	HL-60	blood:	n/a
17	chr12:63328896-63328946	HL-60	blood:	n/a
18	chr12:63327172-63327222	AoSMC	blood vessel:	n/a
19	chr12:63328896-63328946	AG09309	skin:	n/a
20	chr12:63329258-63329308	AG04449	skin:	fetal
21	chr12:63327235-63327285	U87	brain:	n/a
22	chr12:63327235-63327285	Hela-S3	cervix:	n/a
23	chr12:63328524-63328574	NB4	blood:	n/a
24	chr12:63327172-63327222	SK-N-MC	brain:	n/a
25	chr12:63328705-63328755	SK-N-SH_RA	brain:	n/a
26	chr12:63329258-63329308	HEEpiC	esophagus:	n/a
27	chr12:63328969-63329019	PrEC	prostate:	n/a
28	chr12:63328524-63328574	GM19239	blood:	n/a
29	chr12:63329118-63329168	T-47D	breast:	n/a
30	chr12:63328717-63328767	GM12878	blood:	n/a
31	chr12:63328705-63328755	HRPEpiC	eye:	n/a
32	chr12:63328707-63328757	GM06990	blood:	n/a
33	chr12:63329258-63329308	AG09319	gingival:	n/a
34	chr12:63328158-63328208	HepG2	liver:	n/a
35	chr12:63328707-63328757	GM19239	blood:	n/a
36	chr12:63329258-63329308	NHBE	bronchial:	n/a
37	chr12:63329118-63329168	HL-60	blood:	n/a
38	chr12:63328524-63328574	ProgFib	skin:	n/a
39	chr12:63327207-63327257	Hela-S3	cervix:	n/a
40	chr12:63327172-63327222	HepG2	liver:	n/a
41	chr12:63328556-63328606	ProgFib	skin:	n/a
42	chr12:63328158-63328208	T-47D	breast:	n/a
43	chr12:63328969-63329019	PFSK-1	brain:	n/a
44	chr12:63328969-63329019	AoSMC	blood vessel:	n/a
45	chr12:63328524-63328574	NHDF-neo	bronchial:	n/a
46	chr12:63328896-63328946	NHDF-neo	bronchial:	n/a
47	chr12:63328707-63328757	BJ	skin:	n/a
48	chr12:63328524-63328574	Hepatocyte	liver:	n/a
49	chr12:63328705-63328755	HRCEpiC	kidney:	n/a
50	chr12:63328896-63328946	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:63278268..63280209-chr12:63326131..63327723,2	MCF-7	breast:
2	chr12:63326223..63329085-chr20:52208224..52210688,2	MCF-7	breast:
3	chr12:63325863..63329962-chr12:63356030..63360907,6	MCF-7	breast:
4	chr12:62996812..62998536-chr12:63327281..63329321,2	MCF-7	breast:
5	chr12:63326696..63327449-chr3:117961931..117962815,2	MCF-7	breast:
6	chr12:63244647..63247922-chr12:63326690..63328475,3	MCF-7	breast:
7	chr12:63327630..63329589-chr12:63447421..63451204,3	MCF-7	breast:
8	chr12:63321809..63323411-chr12:63325612..63327297,2	K562	blood:
9	chr12:63324965..63327426-chr12:63334327..63336212,2	K562	blood:
10	chr12:62995343..62997102-chr12:63326865..63328948,2	K562	blood:

Variant related genes	Relation type
PPM1H	TF binding region
ENSG00000252660	TF binding region
PPM1H	CpG island
ENSG00000252660	CpG island
ENSG00000257664	chromatin interactions
ENSG00000139239	chromatin interactions
ENSG00000200296	chromatin interactions
ENSG00000221949	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000199179	chromatin interactions
ENSG00000257354	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561857804	chr12:63327230-63327231	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs111836943	chr12:63327267-63327268	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs564873928	chr12:63327314-63327315	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs527282665	chr12:63327324-63327325	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs188692874	chr12:63327342-63327343	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs570610849	chr12:63327345-63327346	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs537717965	chr12:63327391-63327392	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs12301080	chr12:63327396-63327397	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139464006	chr12:63327418-63327419	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs75809669	chr12:63327443-63327444	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs3858674	chr12:63327539-63327540	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568561978	chr12:63327576-63327577	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs537213354	chr12:63327589-63327590	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs180764231	chr12:63327613-63327614	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs577418564	chr12:63327637-63327638	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs185379523	chr12:63327643-63327644	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs190920216	chr12:63327712-63327713	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs572490868	chr12:63327716-63327717	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs374894030	chr12:63327720-63327721	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs182379629	chr12:63327726-63327727	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs561602428	chr12:63327739-63327740	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs375384531	chr12:63327782-63327783	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs575316889	chr12:63327824-63327825	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs554457776	chr12:63327879-63327880	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs3741863	chr12:63327947-63327948	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187379504	chr12:63327961-63327962	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs374232127	chr12:63328072-63328073	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs546416026	chr12:63328085-63328086	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs533200537	chr12:63328101-63328102	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs546899323	chr12:63328111-63328112	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs117774112	chr12:63328120-63328121	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs574759445	chr12:63328147-63328148	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs548580177	chr12:63328185-63328186	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs191664713	chr12:63328205-63328206	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs147349188	chr12:63328254-63328255	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs550842743	chr12:63328264-63328265	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs2628035	chr12:63328324-63328325	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs570703145	chr12:63328422-63328423	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs369944241	chr12:63328448-63328449	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs539681262	chr12:63328464-63328465	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs553231617	chr12:63328465-63328466	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs373314896	chr12:63328493-63328494	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs772580	chr12:63328557-63328558	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535051249	chr12:63328585-63328586	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs555342490	chr12:63328643-63328644	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs540296461	chr12:63328690-63328691	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs544283877	chr12:63328743-63328744	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs564058733	chr12:63328759-63328760	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs577888439	chr12:63328846-63328847	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs540453997	chr12:63328883-63328884	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63326400-63329200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:63326400-63329400	Active TSS	Brain Angular Gyrus	brain
3	chr12:63326600-63328200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:63326600-63329200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:63326600-63330000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr12:63326800-63327400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:63326800-63327400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:63326800-63327400	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr12:63326800-63327400	Flanking Active TSS	Fetal Heart	heart
10	chr12:63326800-63327400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
11	chr12:63326800-63327400	Bivalent/Poised TSS	HSMMtube	muscle
12	chr12:63326800-63327600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr12:63326800-63327600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
14	chr12:63326800-63327600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr12:63326800-63327800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
16	chr12:63326800-63327800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:63326800-63327800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr12:63326800-63327800	Bivalent/Poised TSS	Thymus	Thymus
19	chr12:63326800-63327800	Flanking Bivalent TSS/Enh	NH-A	brain
20	chr12:63326800-63328000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:63326800-63328200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:63326800-63328200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr12:63326800-63328200	Flanking Active TSS	Liver	Liver
24	chr12:63326800-63328200	Active TSS	Right Atrium	heart
25	chr12:63326800-63328400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr12:63326800-63328600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr12:63326800-63329000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:63326800-63329400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr12:63326800-63329400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr12:63326800-63329400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:63326800-63329400	Active TSS	Psoas Muscle	Psoas
32	chr12:63326800-63329400	Active TSS	Right Ventricle	heart
33	chr12:63326800-63329400	Active TSS	Stomach Mucosa	stomach
34	chr12:63326800-63329600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr12:63327000-63327400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:63327000-63327400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:63327000-63327400	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr12:63327000-63327400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
39	chr12:63327000-63327400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr12:63327000-63327400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr12:63327000-63327400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:63327000-63327400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr12:63327000-63327400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
44	chr12:63327000-63327400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
45	chr12:63327000-63327400	Bivalent/Poised TSS	HSMM	muscle
46	chr12:63327000-63327400	Bivalent Enhancer	NHDF-Ad	bronchial
47	chr12:63327000-63327600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
48	chr12:63327000-63327600	Active TSS	Colonic Mucosa	Colon
49	chr12:63327000-63327600	Enhancers	Spleen	Spleen
50	chr12:63327000-63327600	Flanking Bivalent TSS/Enh	NHLF	lung

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