Variant report

Variant	esv3384028
Chromosome Location	chr12:65003435-65005533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:725)
CpG islands
(count:305)
Chromatin interactive
region (count:25)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:65001932-65003917	K562	blood:	n/a	n/a
2	ARID3A	chr12:65002842-65003648	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:65004764-65004964	K562	blood:	n/a	n/a
4	ATF2	chr12:65003478-65004173	GM12878	blood:	n/a	n/a
5	ATF2	chr12:65004569-65005095	GM12878	blood:	n/a	n/a
6	ATF2	chr12:65003261-65003813	GM12878	blood:	n/a	n/a
7	BACH1	chr12:65003273-65004122	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr12:65004749-65005253	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr12:65004772-65005024	GM12878	blood:	n/a	n/a
10	BCL3	chr12:65004612-65004925	GM12878	blood:	n/a	n/a
11	BCL3	chr12:65004592-65005294	A549	lung:	n/a	n/a
12	BCL3	chr12:65003670-65004172	GM12878	blood:	n/a	n/a
13	BCLAF1	chr12:65004508-65005426	GM12878	blood:	n/a	chr12:65004534-65004547 chr12:65004537-65004550 chr12:65004530-65004543 chr12:65004584-65004597
14	BCLAF1	chr12:65003605-65004188	GM12878	blood:	n/a	n/a
15	BCLAF1	chr12:65004486-65005163	GM12878	blood:	n/a	chr12:65004534-65004547 chr12:65004537-65004550 chr12:65004530-65004543 chr12:65004584-65004597
16	BHLHE40	chr12:65004510-65005431	K562	blood:	n/a	chr12:65004542-65004558 chr12:65004826-65004842 chr12:65004793-65004809 chr12:65004534-65004550 chr12:65004794-65004810
17	BHLHE40	chr12:65004641-65004675	A549	lung:	n/a	n/a
18	BHLHE40	chr12:65004410-65005234	GM12878	blood:	n/a	chr12:65004542-65004558 chr12:65004826-65004842 chr12:65004793-65004809 chr12:65004534-65004550 chr12:65004794-65004810
19	BHLHE40	chr12:65003780-65003965	K562	blood:	n/a	n/a
20	BHLHE40	chr12:65003802-65004086	GM12878	blood:	n/a	n/a
21	BRCA1	chr12:65005085-65005287	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr12:65002594-65003673	Hela-S3	cervix:	n/a	chr12:65003012-65003019
23	BRCA1	chr12:65004491-65004752	GM12878	blood:	n/a	n/a
24	CBX3	chr12:65004604-65005048	K562	blood:	n/a	n/a
25	CCNT2	chr12:65003664-65005501	K562	blood:	n/a	n/a
26	CEBPB	chr12:65003947-65004071	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr12:65004756-65005553	Hela-S3	cervix:	n/a	chr12:65005135-65005146
28	CEBPB	chr12:65004433-65004456	Hela-S3	cervix:	n/a	n/a
29	CEBPD	chr12:65003769-65004376	HepG2	liver:	n/a	n/a
30	CEBPD	chr12:65003917-65004232	HepG2	liver:	n/a	n/a
31	CEBPD	chr12:65004804-65005117	HepG2	liver:	n/a	n/a
32	CHD1	chr12:65004568-65005166	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr12:65003361-65003862	H1-hESC	embryonic stem cell:	n/a	chr12:65003765-65003775
34	CHD1	chr12:65003563-65004094	GM12878	blood:	n/a	chr12:65003765-65003775 chr12:65003876-65003886 chr12:65003915-65003925
35	CHD1	chr12:65002551-65006057	IMR90	lung:	n/a	chr12:65004097-65004107 chr12:65003765-65003775 chr12:65003876-65003886 chr12:65003915-65003925
36	CHD1	chr12:65004413-65006197	GM12878	blood:	n/a	n/a
37	CHD2	chr12:65004723-65004900	HepG2	liver:	n/a	n/a
38	CHD2	chr12:65003994-65004067	K562	blood:	n/a	n/a
39	CHD2	chr12:65004545-65005366	GM12878	blood:	n/a	n/a
40	CHD2	chr12:65003562-65003752	K562	blood:	n/a	n/a
41	CHD2	chr12:65003635-65004009	H1-hESC	embryonic stem cell:	n/a	chr12:65003765-65003775 chr12:65003876-65003886 chr12:65003915-65003925
42	CHD2	chr12:65004281-65004682	K562	blood:	n/a	n/a
43	CHD2	chr12:65003761-65004283	GM12878	blood:	n/a	chr12:65004097-65004107 chr12:65003765-65003775 chr12:65003876-65003886 chr12:65003915-65003925
44	CHD2	chr12:65004521-65004527	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr12:65003739-65005465	Hela-S3	cervix:	n/a	chr12:65004097-65004107 chr12:65003765-65003775 chr12:65003876-65003886 chr12:65003915-65003925
46	CREB1	chr12:65003703-65004506	A549	lung:	n/a	n/a
47	CREB1	chr12:65004942-65005425	A549	lung:	n/a	n/a
48	CREB1	chr12:65004424-65005293	GM12878	blood:	n/a	n/a
49	CREB1	chr12:65003528-65005205	HepG2	liver:	n/a	n/a
50	CREB1	chr12:65003654-65004310	GM12878	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:65004898-65004948	Jurkat	blood:	n/a
2	chr12:65004898-65004948	AG04449	skin:	fetal
3	chr12:65003992-65004042	PrEC	prostate:	n/a
4	chr12:65003794-65003844	GM12892	blood:	n/a
5	chr12:65004466-65004516	GM06990	blood:	n/a
6	chr12:65004289-65004339	BE2_C	brain:	n/a
7	chr12:65004466-65004516	HAEpiC	amniotic membrane:	n/a
8	chr12:65004289-65004339	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:65004898-65004948	IMR90	lung:	fetal
10	chr12:65003794-65003844	HMEC	breast:	n/a
11	chr12:65003794-65003844	BE2_C	brain:	n/a
12	chr12:65004466-65004516	HEK293	kidney:	embryo
13	chr12:65003794-65003844	HEK293	kidney:	embryo
14	chr12:65003794-65003844	BJ	skin:	n/a
15	chr12:65004289-65004339	CMK	blood:	n/a
16	chr12:65004289-65004339	NHBE	bronchial:	n/a
17	chr12:65003992-65004042	GM12892	blood:	n/a
18	chr12:65004466-65004516	Hepatocyte	liver:	n/a
19	chr12:65003992-65004042	U87	brain:	n/a
20	chr12:65003992-65004042	HUVEC	blood vessel:	n/a
21	chr12:65003992-65004042	AG04449	skin:	fetal
22	chr12:65004289-65004339	HEK293	kidney:	embryo
23	chr12:65004289-65004339	T-47D	breast:	n/a
24	chr12:65003992-65004042	MCF10A-Er-Src	breast:	n/a
25	chr12:65004289-65004339	GM06990	blood:	n/a
26	chr12:65004466-65004516	HL-60	blood:	n/a
27	chr12:65003794-65003844	H1-hESC	embryonic stem cell:	embryo
28	chr12:65004289-65004339	HRCEpiC	kidney:	n/a
29	chr12:65004898-65004948	HNPCEpiC	eye:	n/a
30	chr12:65003794-65003844	GM06990	blood:	n/a
31	chr12:65003992-65004042	HepG2	liver:	n/a
32	chr12:65003794-65003844	AoSMC	blood vessel:	n/a
33	chr12:65004898-65004948	AG09319	gingival:	n/a
34	chr12:65004466-65004516	PrEC	prostate:	n/a
35	chr12:65003992-65004042	ProgFib	skin:	n/a
36	chr12:65003992-65004042	LNCaP	prostate:	n/a
37	chr12:65004898-65004948	GM06990	blood:	n/a
38	chr12:65004289-65004339	PANC-1	pancreas:	n/a
39	chr12:65003794-65003844	HCM	heart:	n/a
40	chr12:65003794-65003844	NHBE	bronchial:	n/a
41	chr12:65004898-65004948	AG09309	skin:	n/a
42	chr12:65004289-65004339	ProgFib	skin:	n/a
43	chr12:65004289-65004339	IMR90	lung:	fetal
44	chr12:65004289-65004339	HAEpiC	amniotic membrane:	n/a
45	chr12:65003794-65003844	SK-N-SH	brain:	n/a
46	chr12:65004466-65004516	HRPEpiC	eye:	n/a
47	chr12:65003794-65003844	HCF	heart:	n/a
48	chr12:65004466-65004516	ovcar-3	ovarian:	n/a
49	chr12:65003794-65003844	GM12878	blood:	n/a
50	chr12:65003992-65004042	Jurkat	blood:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:65004483..65006802-chr12:65074574..65078170,3	MCF-7	breast:
2	chr12:64796628..64799812-chr12:65002415..65005896,3	K562	blood:
3	chr1:934913..935856-chr12:65003008..65003967,2	Hela-S3	cervix:
4	chr12:65004967..65007120-chr12:65061292..65063041,2	K562	blood:
5	chr12:65004562..65005411-chr12:65018842..65019420,4	MCF-7	breast:
6	chr12:49525114..49525857-chr12:65004032..65004831,2	Hela-S3	cervix:
7	chr1:202777265..202777801-chr12:65003536..65004412,2	Hela-S3	cervix:
8	chr12:65001714..65006897-chr12:65088342..65093997,11	MCF-7	breast:
9	chr12:65004550..65006753-chr12:65173633..65175877,2	MCF-7	breast:
10	chr1:28974934..28975572-chr12:65004207..65004918,2	Hela-S3	cervix:
11	chr12:65003158..65005716-chr12:65217154..65219440,2	MCF-7	breast:
12	chr12:65001959..65005152-chr12:65021514..65024393,3	K562	blood:
13	chr12:65004390..65005089-chr19:17325881..17326587,2	Hela-S3	cervix:
14	chr12:65003563..65004407-chr8:21998747..21999449,2	Hela-S3	cervix:
15	chr12:65002667..65003975-chr15:72523179..72524331,3	Hela-S3	cervix:
16	chr12:65001959..65007139-chr12:65021874..65025265,5	K562	blood:
17	chr12:65004562..65005438-chr12:65018842..65019420,5	MCF-7	breast:
18	chr12:65001130..65003993-chr12:65004405..65007719,4	K562	blood:
19	chr12:65002182..65006670-chr12:65087134..65093452,10	MCF-7	breast:
20	chr12:65003571..65004207-chr22:24666503..24667134,2	Hela-S3	cervix:
21	chr12:65001678..65008078-chr12:65013108..65023657,17	MCF-7	breast:
22	chr12:64844696..64847501-chr12:65001513..65004366,3	K562	blood:
23	chr12:64844835..64848934-chr12:65001187..65005448,7	MCF-7	breast:
24	chr12:65001526..65007900-chr12:65015799..65021807,8	K562	blood:
25	chr12:64796580..64799507-chr12:65002415..65006757,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBK1-2	chr12:65004302-65004523	NONHSAT029155
2	lnc-TBK1-2	chr12:65005218-65005430	NONHSAT029155

No data

Variant related genes	Relation type
ENSG00000256670	TF binding region
RASSF3	TF binding region
ENSG00000256670	CpG island
RASSF3	CpG island
ENSG00000268028	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000207546	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000188290	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000225195	chromatin interactions
ENSG00000111490	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000256670	chromatin interactions
ENSG00000258555	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000168476	chromatin interactions
ENSG00000183735	chromatin interactions
ENSG00000184575	chromatin interactions
ENSG00000100014	chromatin interactions
ENSG00000117139	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183061248	chr12:65003630-65003631	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs538108532	chr12:65003641-65003642	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs141292600	chr12:65003675-65003676	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs574652443	chr12:65003678-65003679	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs543165484	chr12:65003701-65003702	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs78566754	chr12:65003721-65003722	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs116761617	chr12:65003767-65003768	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs557762301	chr12:65003809-65003810	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs150344505	chr12:65003839-65003840	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs577550017	chr12:65003845-65003846	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs551829705	chr12:65003858-65003859	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs370768692	chr12:65003898-65003899	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs547649173	chr12:65003966-65003967	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs561165728	chr12:65003967-65003968	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs528995323	chr12:65004022-65004023	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs138106309	chr12:65004044-65004045	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs533936107	chr12:65004056-65004057	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs569405155	chr12:65004058-65004059	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs538677505	chr12:65004097-65004098	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs553590044	chr12:65004109-65004110	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs551891061	chr12:65004117-65004118	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs565631871	chr12:65004137-65004138	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs534629042	chr12:65004138-65004139	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs554876548	chr12:65004166-65004167	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs61931626	chr12:65004190-65004191	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs537234047	chr12:65004246-65004247	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs556740631	chr12:65004264-65004265	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs576461952	chr12:65004268-65004269	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs545441091	chr12:65004285-65004286	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs3741747	chr12:65004316-65004317	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572373832	chr12:65004336-65004337	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
32	rs369891224	chr12:65004371-65004372	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
33	rs3741748	chr12:65004387-65004388	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377530606	chr12:65004396-65004397	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
35	rs370961651	chr12:65004401-65004402	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
36	rs375508791	chr12:65004454-65004455	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
37	rs561233831	chr12:65004455-65004456	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
38	rs530273390	chr12:65004456-65004457	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
39	rs543608031	chr12:65004474-65004475	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
40	rs12810661	chr12:65004486-65004487	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
41	rs563859532	chr12:65004510-65004511	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
42	rs77813527	chr12:65004520-65004521	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
43	rs374886610	chr12:65004539-65004540	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs552216990	chr12:65004545-65004546	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs117122731	chr12:65004550-65004551	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs12810843	chr12:65004562-65004563	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs374367705	chr12:65004593-65004594	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs187757150	chr12:65004596-65004597	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs568358275	chr12:65004616-65004617	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs115467889	chr12:65004638-65004639	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65001800-65005400	Active TSS	Hela-S3	cervix
2	chr12:65001800-65006200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:65001800-65006600	Active TSS	A549	lung
4	chr12:65002200-65004000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr12:65002400-65003800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr12:65002400-65003800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr12:65002400-65003800	Flanking Active TSS	HUVEC	blood vessel
8	chr12:65002400-65004400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:65002400-65005400	Active TSS	K562	blood
10	chr12:65002400-65006000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:65002400-65006000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:65002400-65006200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:65002400-65006400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:65002600-65003600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:65002600-65003600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr12:65002600-65003600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr12:65002600-65003800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr12:65002600-65003800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:65002600-65003800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr12:65002600-65003800	Flanking Active TSS	Fetal Thymus	thymus
21	chr12:65002600-65003800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr12:65002600-65004000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr12:65002600-65004000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr12:65002600-65004000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:65002600-65004000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:65002600-65005200	Active TSS	Brain Cingulate Gyrus	brain
27	chr12:65002600-65005600	Active TSS	Fetal Intestine Large	intestine
28	chr12:65002600-65005600	Active TSS	Fetal Lung	lung
29	chr12:65002600-65005800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:65002600-65006000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr12:65002600-65006000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:65002600-65006000	Active TSS	Fetal Intestine Small	intestine
33	chr12:65002600-65006000	Active TSS	HSMMtube	muscle
34	chr12:65002600-65006200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr12:65002600-65006200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:65002600-65006200	Active TSS	Fetal Kidney	kidney
37	chr12:65002600-65006200	Active TSS	Fetal Muscle Trunk	muscle
38	chr12:65002600-65006200	Active TSS	HSMM	muscle
39	chr12:65002600-65006400	Active TSS	Right Ventricle	heart
40	chr12:65002600-65007000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:65002600-65007800	Active TSS	GM12878-XiMat	blood
42	chr12:65002800-65003600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:65002800-65003600	Active TSS	Stomach Smooth Muscle	stomach
44	chr12:65002800-65003800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:65002800-65003800	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr12:65002800-65003800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr12:65002800-65003800	Flanking Active TSS	Dnd41	blood
48	chr12:65002800-65003800	Flanking Active TSS	NH-A	brain
49	chr12:65002800-65004400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:65002800-65004600	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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