Variant report

Variant	esv3405562
Chromosome Location	chr12:26110910-26113458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:577)
CpG islands
(count:611)
Chromatin interactive
region (count:3)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:26111166-26111346	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr12:26111173-26111242	K562	blood:	n/a	n/a
3	BHLHE40	chr12:26112213-26112339	HepG2	liver:	n/a	chr12:26112227-26112243
4	BRCA1	chr12:26111365-26111532	HepG2	liver:	n/a	n/a
5	BRCA1	chr12:26111108-26111522	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr12:26112175-26112984	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr12:26111238-26112215	K562	blood:	n/a	n/a
8	CEBPB	chr12:26110907-26113412	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr12:26111941-26112234	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr12:26111833-26112347	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr12:26111962-26112210	MCF-7	breast:	n/a	n/a
12	CEBPB	chr12:26112527-26113059	A549	lung:	n/a	n/a
13	CEBPB	chr12:26111935-26112156	HepG2	liver:	n/a	n/a
14	CEBPB	chr12:26112002-26112163	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr12:26112669-26112946	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:26112044-26112231	K562	blood:	n/a	n/a
17	CEBPB	chr12:26111890-26112243	HepG2	liver:	n/a	n/a
18	CEBPB	chr12:26111976-26112392	A549	lung:	n/a	n/a
19	CEBPB	chr12:26111997-26112283	A549	lung:	n/a	n/a
20	CEBPB	chr12:26111941-26112282	A549	lung:	n/a	n/a
21	CEBPB	chr12:26111886-26112248	HepG2	liver:	n/a	n/a
22	CEBPB	chr12:26111874-26112285	IMR90	lung:	n/a	n/a
23	CEBPB	chr12:26112674-26112920	A549	lung:	n/a	n/a
24	CEBPB	chr12:26112585-26112981	IMR90	lung:	n/a	n/a
25	CEBPD	chr12:26111949-26112217	HepG2	liver:	n/a	n/a
26	CHD1	chr12:26111776-26111841	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr12:26112224-26112728	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr12:26110394-26114412	IMR90	lung:	n/a	chr12:26111241-26111251
29	CHD1	chr12:26113051-26113310	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr12:26110923-26111653	H1-hESC	embryonic stem cell:	n/a	chr12:26111241-26111251
31	CHD2	chr12:26112283-26112306	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr12:26111356-26111688	K562	blood:	n/a	n/a
33	CHD2	chr12:26110731-26113022	Hela-S3	cervix:	n/a	chr12:26111241-26111251
34	CHD2	chr12:26111193-26111675	HepG2	liver:	n/a	chr12:26111241-26111251
35	CREB1	chr12:26111027-26111852	HepG2	liver:	n/a	n/a
36	CREB1	chr12:26111163-26111483	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr12:26111004-26111511	K562	blood:	n/a	n/a
38	CREB1	chr12:26111109-26112471	A549	lung:	n/a	n/a
39	CREB1	chr12:26110975-26111517	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTBP2	chr12:26111692-26112349	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTBP2	chr12:26110974-26111479	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr12:26112740-26112890	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr12:26112725-26112831	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr12:26111388-26111566	HepG2	liver:	n/a	n/a
45	CTCF	chr12:26113180-26113330	HFF	foreskin:	n/a	n/a
46	CTCF	chr12:26111427-26111532	GM13977	blood:	n/a	n/a
47	CTCF	chr12:26111358-26111545	GM12878	blood:	n/a	n/a
48	CTCF	chr12:26112737-26112898	LNCaP	prostate:	n/a	n/a
49	CTCF	chr12:26113200-26113350	AG04450	lung:	n/a	n/a
50	CTCF	chr12:26113260-26113410	A549	lung:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:26111821-26111871	MCF-7	breast:	n/a
2	chr12:26111821-26111871	MCF-7	breast:	n/a
3	chr12:26112653-26112703	A549	lung:	n/a
4	chr12:26111162-26111212	MCF10A-Er-Src	breast:	n/a
5	chr12:26111162-26111212	NT2-D1	testis:	n/a
6	chr12:26111821-26111871	HRE	kidney:	n/a
7	chr12:26111213-26111263	BJ	skin:	n/a
8	chr12:26111821-26111871	A549	lung:	n/a
9	chr12:26111697-26111747	NT2-D1	testis:	n/a
10	chr12:26111213-26111263	HCM	heart:	n/a
11	chr12:26112121-26112171	AG10803	skin:	n/a
12	chr12:26112653-26112703	HEEpiC	esophagus:	n/a
13	chr12:26112653-26112703	SKMC	muscle:	n/a
14	chr12:26112065-26112115	T-47D	breast:	n/a
15	chr12:26112653-26112703	GM06990	blood:	n/a
16	chr12:26112746-26112796	K562	blood:	n/a
17	chr12:26111821-26111871	HAEpiC	amniotic membrane:	n/a
18	chr12:26111213-26111263	SK-N-SH_RA	brain:	n/a
19	chr12:26111348-26111398	GM06990	blood:	n/a
20	chr12:26111348-26111398	HIPEpiC	eye:	n/a
21	chr12:26112454-26112504	HEK293	kidney:	embryo
22	chr12:26112121-26112171	HCF	heart:	n/a
23	chr12:26112121-26112171	SKMC	muscle:	n/a
24	chr12:26111697-26111747	AG04450	lung:	fetal
25	chr12:26111697-26111747	AG09319	gingival:	n/a
26	chr12:26111162-26111212	HCF	heart:	n/a
27	chr12:26112121-26112171	HRCEpiC	kidney:	n/a
28	chr12:26111348-26111398	NH-A	brain:	n/a
29	chr12:26112653-26112703	HNPCEpiC	eye:	n/a
30	chr12:26112065-26112115	NB4	blood:	n/a
31	chr12:26111213-26111263	HRCEpiC	kidney:	n/a
32	chr12:26111697-26111747	NB4	blood:	n/a
33	chr12:26111162-26111212	HRCEpiC	kidney:	n/a
34	chr12:26112746-26112796	H1-hESC	embryonic stem cell:	embryo
35	chr12:26112746-26112796	SAEC	small airway:	n/a
36	chr12:26111821-26111871	NH-A	brain:	n/a
37	chr12:26111162-26111212	HCPEpiC	choroid plexus:	n/a
38	chr12:26111697-26111747	GM12891	blood:	n/a
39	chr12:26111213-26111263	HUVEC	blood vessel:	n/a
40	chr12:26112746-26112796	A549	lung:	n/a
41	chr12:26111162-26111212	NHBE	bronchial:	n/a
42	chr12:26112121-26112171	GM19239	blood:	n/a
43	chr12:26112746-26112796	HCT-116	colon:	n/a
44	chr12:26112653-26112703	HCPEpiC	choroid plexus:	n/a
45	chr12:26111821-26111871	H1-hESC	embryonic stem cell:	embryo
46	chr12:26111821-26111871	SAEC	small airway:	n/a
47	chr12:26112454-26112504	NHBE	bronchial:	n/a
48	chr12:26112121-26112171	NHBE	bronchial:	n/a
49	chr12:26111213-26111263	NHDF-neo	bronchial:	n/a
50	chr12:26112746-26112796	PrEC	prostate:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:25986954..25988487-chr12:26111623..26114201,2	MCF-7	breast:
2	chr12:26112991..26115825-chr12:26120756..26122747,2	MCF-7	breast:
3	chr12:26110998..26111780-chr19:1251515..1252465,2	Hela-S3	cervix:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE41-2	chr12:26112259-26112375	ENSG00000246695
2	lnc-SSPN-6	chr12:26112054-26112081	NONHSAT027387
3	lnc-BHLHE41-2	chr12:26110952-26111426	NONHSAT027382
4	lnc-BHLHE41-2	chr12:26112259-26112314	ENSG00000246695
5	lnc-BHLHE41-2	chr12:26110952-26111496	NONHSAT027366
6	lnc-SSPN-6	chr12:26111991-26112081	NONHSAT027385
7	lnc-BHLHE41-2	chr12:26111865-26111998	ENSG00000246695
8	lnc-BHLHE41-2	chr12:26110952-26111408	NONHSAT027374
9	lnc-BHLHE41-2	chr12:26111865-26111998	ENSG00000246695
10	lnc-SSPN-6	chr12:26112054-26112081	NONHSAT027388
11	lnc-BHLHE41-2	chr12:26111865-26111975	ENSG00000246695
12	lnc-BHLHE41-2	chr12:26110952-26111408	NONHSAT140062
13	lnc-BHLHE41-2	chr12:26110952-26111511	ENSG00000246695
14	lnc-BHLHE41-2	chr12:26112259-26112698	ENSG00000246695
15	lnc-BHLHE41-2	chr12:26112259-26112375	NR_038228
16	lnc-BHLHE41-2	chr12:26110952-26111426	NONHSAT027381
17	lnc-BHLHE41-2	chr12:26110952-26110979	ENSG00000246695
18	lnc-BHLHE41-2	chr12:26110952-26111030	NONHSAT027371
19	lnc-BHLHE41-2	chr12:26110952-26111483	NONHSAT027384

No data

Variant related genes	Relation type
RASSF8-AS1	TF binding region
RASSF8	TF binding region
RASSF8-AS1	CpG island
RASSF8	CpG island
ENSG00000167470	chromatin interactions
ENSG00000256440	chromatin interactions
RMND5A	miRNA target sites
NARS	miRNA target sites
ZADH2	miRNA target sites
KAT2B	miRNA target sites
RPH3AL	miRNA target sites
VPS4B	miRNA target sites
TMEM41A	miRNA target sites

Extended variants
information (count: 82 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552583074	chr12:26110919-26110920	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs539263776	chr12:26110934-26110935	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs145373780	chr12:26110955-26110956	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs141579938	chr12:26110978-26110979	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs541394478	chr12:26110988-26110989	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs376164641	chr12:26111000-26111001	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs563804132	chr12:26111117-26111118	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs79213154	chr12:26111125-26111126	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs530673580	chr12:26111134-26111135	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs545983768	chr12:26111161-26111162	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs370247893	chr12:26111179-26111180	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs528639952	chr12:26111193-26111194	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs547101810	chr12:26111221-26111222	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs568496917	chr12:26111286-26111287	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs149047907	chr12:26111293-26111294	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs550666020	chr12:26111318-26111319	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs569543743	chr12:26111393-26111394	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs533183570	chr12:26111567-26111568	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs555340450	chr12:26111571-26111572	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs706519	chr12:26111576-26111577	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs539739864	chr12:26111648-26111649	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs113005451	chr12:26111693-26111694	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs558370652	chr12:26111695-26111696	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs143079346	chr12:26111740-26111741	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs706520	chr12:26111780-26111781	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs552669575	chr12:26111905-26111906	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs3741544	chr12:26111923-26111924	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs558048169	chr12:26111941-26111942	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs556640699	chr12:26111963-26111964	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs575544437	chr12:26112062-26112063	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs117899401	chr12:26112098-26112099	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs564309210	chr12:26112124-26112125	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528274388	chr12:26112130-26112131	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs540401996	chr12:26112135-26112136	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs12823567	chr12:26112158-26112159	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs562179230	chr12:26112180-26112181	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs529366814	chr12:26112182-26112183	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs373223804	chr12:26112204-26112205	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs145278228	chr12:26112211-26112212	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs557875334	chr12:26112270-26112271	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs3741545	chr12:26112289-26112290	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115826575	chr12:26112341-26112342	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs566793179	chr12:26112361-26112362	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs534138254	chr12:26112432-26112433	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs118115522	chr12:26112454-26112455	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs138127006	chr12:26112500-26112501	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs573156972	chr12:26112519-26112520	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs141810174	chr12:26112520-26112521	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs556960735	chr12:26112522-26112523	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs575117613	chr12:26112535-26112536	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	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	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26095800-26111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:26110000-26111000	Flanking Active TSS	Hela-S3	cervix
3	chr12:26110000-26113600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:26110200-26111000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:26110200-26111000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:26110200-26111000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:26110200-26112800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:26110200-26113400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:26110200-26115200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:26110400-26111000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:26110400-26111000	Flanking Active TSS	HUVEC	blood vessel
12	chr12:26110400-26113200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:26110400-26113200	Active TSS	Fetal Muscle Trunk	muscle
14	chr12:26110400-26113400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:26110400-26113400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr12:26110400-26113400	Active TSS	Fetal Kidney	kidney
17	chr12:26110400-26113600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:26110400-26114000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:26110400-26114400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:26110600-26111000	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr12:26110600-26111000	Flanking Active TSS	A549	lung
22	chr12:26110600-26111200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:26110600-26111200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr12:26110600-26111200	Flanking Active TSS	Liver	Liver
25	chr12:26110600-26111200	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr12:26110600-26111200	Flanking Active TSS	NHEK	skin
27	chr12:26110600-26111400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr12:26110600-26112200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:26110600-26112400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:26110600-26112600	Active TSS	Fetal Brain Female	brain
31	chr12:26110600-26112800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:26110600-26112800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr12:26110600-26112800	Active TSS	Brain Cingulate Gyrus	brain
34	chr12:26110600-26112800	Active TSS	Fetal Intestine Small	intestine
35	chr12:26110600-26112800	Active TSS	Fetal Stomach	stomach
36	chr12:26110600-26112800	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:26110600-26112800	Active TSS	HSMMtube	muscle
38	chr12:26110600-26112800	Active TSS	NH-A	brain
39	chr12:26110600-26113000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:26110600-26113000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:26110600-26113000	Active TSS	Brain Substantia Nigra	brain
42	chr12:26110600-26113200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:26110600-26113200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:26110600-26113200	Active TSS	Fetal Lung	lung
45	chr12:26110600-26113200	Active TSS	Left Ventricle	heart
46	chr12:26110600-26113200	Active TSS	HSMM	muscle
47	chr12:26110600-26113400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:26110600-26113400	Active TSS	H9 Cell Line	embryonic stem cell
49	chr12:26110600-26113400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:26110600-26113400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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