Variant report

Variant	esv1812889
Chromosome Location	chr12:12510842-12593406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1462)
CpG islands
(count:366)
Chromatin interactive
region (count:109)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1462 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:12550998-12551820	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:12592544-12593023	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:12545008-12545232	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:12570025-12570153	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:12534087-12534699	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:12556422-12557190	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:12551291-12551596	K562	blood:	n/a	n/a
8	ARID3A	chr12:12545383-12545806	K562	blood:	n/a	n/a
9	ARID3A	chr12:12556699-12557067	K562	blood:	n/a	n/a
10	ARID3A	chr12:12537535-12538151	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:12529544-12529933	HepG2	liver:	n/a	n/a
12	ARID3A	chr12:12558867-12559164	HepG2	liver:	n/a	n/a
13	ARID3A	chr12:12529578-12529897	K562	blood:	n/a	n/a
14	ATF1	chr12:12556849-12557100	K562	blood:	n/a	n/a
15	ATF1	chr12:12545213-12545785	K562	blood:	n/a	n/a
16	ATF3	chr12:12550769-12551773	A549	lung:	n/a	n/a
17	ATF3	chr12:12569885-12570139	K562	blood:	n/a	n/a
18	ATF3	chr12:12556629-12557196	A549	lung:	n/a	chr12:12557009-12557023 chr12:12557014-12557022 chr12:12557011-12557022 chr12:12557013-12557024
19	ATF3	chr12:12550843-12551812	A549	lung:	n/a	n/a
20	BACH1	chr12:12545497-12545697	K562	blood:	n/a	n/a
21	BATF	chr12:12581071-12581366	GM12878	blood:	n/a	n/a
22	BCL3	chr12:12550863-12551787	A549	lung:	n/a	n/a
23	BCL3	chr12:12556032-12557332	A549	lung:	n/a	chr12:12557131-12557140
24	BCL3	chr12:12550677-12551867	A549	lung:	n/a	n/a
25	BCLAF1	chr12:12509548-12510871	GM12878	blood:	n/a	chr12:12510259-12510272 chr12:12510326-12510339
26	BCLAF1	chr12:12529473-12530001	GM12878	blood:	n/a	n/a
27	BCLAF1	chr12:12509815-12510972	GM12878	blood:	n/a	chr12:12510259-12510272 chr12:12510326-12510339
28	BHLHE40	chr12:12537916-12538205	HepG2	liver:	n/a	chr12:12538104-12538113 chr12:12538104-12538113 chr12:12538105-12538114 chr12:12538098-12538119
29	BHLHE40	chr12:12532622-12533229	GM12878	blood:	n/a	n/a
30	BHLHE40	chr12:12537880-12538299	HepG2	liver:	n/a	chr12:12538104-12538113 chr12:12538104-12538113 chr12:12538105-12538114 chr12:12538098-12538119
31	BHLHE40	chr12:12549907-12549914	HepG2	liver:	n/a	n/a
32	BHLHE40	chr12:12545357-12545685	K562	blood:	n/a	n/a
33	BHLHE40	chr12:12537940-12538255	K562	blood:	n/a	chr12:12538104-12538113 chr12:12538104-12538113 chr12:12538105-12538114 chr12:12538098-12538119
34	BHLHE40	chr12:12556440-12556902	HepG2	liver:	n/a	n/a
35	BHLHE40	chr12:12540555-12540803	K562	blood:	n/a	n/a
36	BHLHE40	chr12:12587157-12587276	GM12878	blood:	n/a	chr12:12587251-12587264 chr12:12587254-12587263
37	BHLHE40	chr12:12537973-12538300	GM12878	blood:	n/a	chr12:12538104-12538113 chr12:12538104-12538113 chr12:12538105-12538114 chr12:12538098-12538119
38	BHLHE40	chr12:12584118-12584208	GM12878	blood:	n/a	n/a
39	BRCA1	chr12:12540708-12540758	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr12:12533035-12533038	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr12:12553227-12553285	GM12878	blood:	n/a	n/a
42	BRCA1	chr12:12529604-12529918	Hela-S3	cervix:	n/a	n/a
43	CBX3	chr12:12540482-12540872	HCT-116	colon:	n/a	n/a
44	CCNT2	chr12:12545414-12545681	K562	blood:	n/a	n/a
45	CCNT2	chr12:12551300-12551553	K562	blood:	n/a	n/a
46	CEBPB	chr12:12556164-12557141	HepG2	liver:	n/a	chr12:12556382-12556393
47	CEBPB	chr12:12526302-12526607	A549	lung:	n/a	chr12:12526452-12526465 chr12:12526452-12526465 chr12:12526452-12526463
48	CEBPB	chr12:12551290-12551818	HepG2	liver:	n/a	chr12:12551623-12551635
49	CEBPB	chr12:12578128-12578332	IMR90	lung:	n/a	n/a
50	CEBPB	chr12:12592454-12592937	A549	lung:	n/a	chr12:12592633-12592644 chr12:12592633-12592646

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:12558857-12558907	HL-60	blood:	n/a
2	chr12:12593395-12593445	T-47D	breast:	n/a
3	chr12:12518875-12518925	HRE	kidney:	n/a
4	chr12:12593395-12593445	PrEC	prostate:	n/a
5	chr12:12551013-12551063	HRPEpiC	eye:	n/a
6	chr12:12511223-12511273	ECC-1	luminal epithelium:	n/a
7	chr12:12511223-12511273	HCF	heart:	n/a
8	chr12:12518875-12518925	AG04450	lung:	fetal
9	chr12:12518875-12518925	SK-N-SH	brain:	n/a
10	chr12:12593395-12593445	HRPEpiC	eye:	n/a
11	chr12:12551013-12551063	LNCaP	prostate:	n/a
12	chr12:12518875-12518925	RPTEC	kidney:	n/a
13	chr12:12514228-12514278	ProgFib	skin:	n/a
14	chr12:12593395-12593445	AG04449	skin:	fetal
15	chr12:12551013-12551063	CMK	blood:	n/a
16	chr12:12558857-12558907	HepG2	liver:	n/a
17	chr12:12514228-12514278	HPAEpiC	pulmonary alveolar:	n/a
18	chr12:12558857-12558907	PFSK-1	brain:	n/a
19	chr12:12511223-12511273	NT2-D1	testis:	n/a
20	chr12:12593395-12593445	GM12892	blood:	n/a
21	chr12:12518875-12518925	ECC-1	luminal epithelium:	n/a
22	chr12:12514228-12514278	AG10803	skin:	n/a
23	chr12:12551013-12551063	MCF-7	breast:	n/a
24	chr12:12518875-12518925	BJ	skin:	n/a
25	chr12:12511223-12511273	HCM	heart:	n/a
26	chr12:12551013-12551063	HUVEC	blood vessel:	n/a
27	chr12:12518875-12518925	AG10803	skin:	n/a
28	chr12:12511223-12511273	CMK	blood:	n/a
29	chr12:12593395-12593445	GM12891	blood:	n/a
30	chr12:12514228-12514278	HNPCEpiC	eye:	n/a
31	chr12:12593395-12593445	NHBE	bronchial:	n/a
32	chr12:12518875-12518925	K562	blood:	n/a
33	chr12:12514228-12514278	Caco-2	colon:	n/a
34	chr12:12518875-12518925	HCF	heart:	n/a
35	chr12:12558857-12558907	HCM	heart:	n/a
36	chr12:12593395-12593445	NH-A	brain:	n/a
37	chr12:12518875-12518925	Caco-2	colon:	n/a
38	chr12:12511223-12511273	H1-hESC	embryonic stem cell:	embryo
39	chr12:12518875-12518925	PrEC	prostate:	n/a
40	chr12:12558857-12558907	RPTEC	kidney:	n/a
41	chr12:12511223-12511273	SK-N-MC	brain:	n/a
42	chr12:12593395-12593445	ovcar-3	ovarian:	n/a
43	chr12:12551013-12551063	SK-N-MC	brain:	n/a
44	chr12:12593395-12593445	HepG2	liver:	n/a
45	chr12:12558857-12558907	HCPEpiC	choroid plexus:	n/a
46	chr12:12593395-12593445	LNCaP	prostate:	n/a
47	chr12:12558857-12558907	NH-A	brain:	n/a
48	chr12:12551013-12551063	IMR90	lung:	fetal
49	chr12:12551013-12551063	HAEpiC	amniotic membrane:	n/a
50	chr12:12551013-12551063	AG09319	gingival:	n/a

(count:109 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:
2	chr12:12555144..12557679-chr12:12584651..12587421,2	MCF-7	breast:
3	chr12:12555144..12557679-chr12:12584651..12587421,2	MCF-7	breast:
4	chr12:12523614..12525450-chr12:12713286..12715120,2	MCF-7	breast:
5	chr12:12508565..12513346-chr12:12518905..12526361,9	K562	blood:
6	chr12:12509330..12513233-chr12:12874960..12880946,8	K562	blood:
7	chr12:12519688..12522989-chr12:12524598..12527681,3	K562	blood:
8	chr12:12531757..12533450-chr12:12857670..12859223,2	MCF-7	breast:
9	chr12:12509599..12512153-chr12:12848294..12850312,2	MCF-7	breast:
10	chr12:12547827..12551024-chr12:12713596..12715530,3	MCF-7	breast:
11	chr12:12557174..12559424-chr12:12713133..12714808,2	MCF-7	breast:
12	chr12:12510791..12511698-chrX:119797918..119798865,2	Hela-S3	cervix:
13	chr12:12532395..12535127-chr12:12868296..12871166,2	MCF-7	breast:
14	chr12:12510495..12512125-chr12:12760276..12763273,2	MCF-7	breast:
15	chr12:12529340..12531603-chr12:12711147..12714466,3	MCF-7	breast:
16	chr12:12419370..12422118-chr12:12510348..12512093,2	MCF-7	breast:
17	chr12:12587508..12589522-chr12:12868526..12870238,2	MCF-7	breast:
18	chr12:12586894..12590134-chr12:12591817..12594282,3	K562	blood:
19	chr12:12510176..12510943-chr19:3500464..3501174,2	Hela-S3	cervix:
20	chr12:12531073..12532698-chr12:12940131..12941983,2	K562	blood:
21	chr12:12515022..12517464-chr12:12520422..12522586,3	MCF-7	breast:
22	chr12:12508122..12513324-chr12:12871018..12878415,8	MCF-7	breast:
23	chr12:12588163..12590134-chr12:12591817..12594282,2	K562	blood:
24	chr12:12585154..12587751-chr12:12741127..12742716,2	MCF-7	breast:
25	chr12:12505582..12507087-chr12:12510779..12513309,2	MCF-7	breast:
26	chr12:12526769..12529809-chr12:12714703..12717328,3	K562	blood:
27	chr12:12510200..12513346-chr12:12523638..12526361,3	K562	blood:
28	chr12:12509330..12511597-chr12:12874960..12877485,2	K562	blood:
29	chr12:12529636..12530613-chr12:12656069..12656681,3	MCF-7	breast:
30	chr12:12509354..12513359-chr12:12517458..12522131,6	K562	blood:
31	chr12:12549798..12552147-chr12:12868684..12871566,2	MCF-7	breast:
32	chr12:12567548..12570120-chr12:12585804..12588751,2	K562	blood:
33	chr12:12584022..12586208-chr12:12592875..12596434,3	MCF-7	breast:
34	chr12:12518944..12521734-chr12:12847277..12849075,2	MCF-7	breast:
35	chr12:12534486..12536460-chr12:12761134..12763160,2	MCF-7	breast:
36	chr12:12502870..12504833-chr12:12508269..12511200,3	K562	blood:
37	chr12:12509229..12511438-chr12:12866532..12868285,2	MCF-7	breast:
38	chr12:12588493..12590525-chr12:12592316..12593920,2	MCF-7	breast:
39	chr12:12551031..12553032-chr12:12674320..12676066,2	MCF-7	breast:
40	chr12:12584022..12586208-chr12:12592875..12596434,3	MCF-7	breast:
41	chr12:12525607..12527513-chrX:39488072..39490988,2	MCF-7	breast:
42	chr12:12548191..12550928-chr12:12559817..12561583,2	MCF-7	breast:
43	chr12:12580312..12582996-chr12:12648127..12650612,2	MCF-7	breast:
44	chr12:12517934..12520693-chr12:12524024..12526072,2	MCF-7	breast:
45	chr12:12538899..12542001-chr12:12714080..12716309,3	MCF-7	breast:
46	chr12:12591338..12594027-chr12:12713055..12715643,2	K562	blood:
47	chr12:12531370..12534398-chr12:12711544..12717276,8	MCF-7	breast:
48	chr12:12551360..12553535-chr12:12553854..12557038,3	MCF-7	breast:
49	chr12:12522631..12525556-chr12:12525783..12528472,2	MCF-7	breast:
50	chr12:12517934..12520693-chr12:12524024..12526072,2	MCF-7	breast:

No data

Variant related genes	Relation type
LOH12CR2	TF binding region
LOH12CR2	CpG island
ENSG00000111269	chromatin interactions
ENSG00000183150	chromatin interactions
ENSG00000205791	chromatin interactions
ENSG00000070018	chromatin interactions
ENSG00000178878	chromatin interactions
ENSG00000129932	chromatin interactions
ENSG00000256658	chromatin interactions
ENSG00000111276	chromatin interactions
ENSG00000165714	chromatin interactions
ENSG00000111266	chromatin interactions
ENSG00000111261	chromatin interactions

Extended variants
information (count: 3579 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3579 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530632032	chr12:12510847-12510848	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs549023996	chr12:12510920-12510921	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs139430122	chr12:12510933-12510934	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs528463774	chr12:12510952-12510953	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs546718265	chr12:12510962-12510963	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs566214347	chr12:12510992-12510993	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs184838438	chr12:12511037-12511038	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs368758152	chr12:12511043-12511044	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs73061450	chr12:12511048-12511049	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs551278740	chr12:12511088-12511089	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs559102467	chr12:12511193-12511194	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs575887509	chr12:12511207-12511208	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs35769109	chr12:12511214-12511215	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs181607590	chr12:12511218-12511219	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs555457424	chr12:12511236-12511237	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs186300081	chr12:12511243-12511244	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs534593342	chr12:12511245-12511246	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs552731258	chr12:12511339-12511340	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs35414482	chr12:12511342-12511343	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs189425357	chr12:12511427-12511428	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs577584499	chr12:12511452-12511453	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs544938020	chr12:12511516-12511517	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs76413444	chr12:12511517-12511518	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs575046318	chr12:12511523-12511524	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs543510327	chr12:12511575-12511576	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs75596415	chr12:12511576-12511577	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs199615114	chr12:12511592-12511593	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs115867252	chr12:12511650-12511651	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs182075365	chr12:12511666-12511667	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs185988982	chr12:12511677-12511678	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs190905425	chr12:12511683-12511684	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs565106669	chr12:12511712-12511713	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs12821572	chr12:12511760-12511761	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs11054844	chr12:12511871-12511872	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs577758823	chr12:12511872-12511873	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs74062510	chr12:12511898-12511899	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs569575484	chr12:12511904-12511905	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs79186269	chr12:12511908-12511909	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs548843877	chr12:12511932-12511933	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs36018687	chr12:12511942-12511943	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs560598631	chr12:12511987-12511988	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs7977450	chr12:12511991-12511992	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs534389023	chr12:12511992-12511993	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs186370907	chr12:12512009-12512010	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs571114394	chr12:12512012-12512013	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs117669794	chr12:12512031-12512032	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs369843449	chr12:12512091-12512092	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs556971831	chr12:12512109-12512110	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs112699828	chr12:12512138-12512139	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs575190820	chr12:12512142-12512143	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	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
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	21088497	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:2291 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12509200-12511200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:12509400-12511200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:12509400-12511400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:12509400-12511400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:12509400-12511400	Active TSS	Pancreas	Pancrea
6	chr12:12509400-12511400	Active TSS	Psoas Muscle	Psoas
7	chr12:12509400-12511600	Flanking Active TSS	HMEC	breast
8	chr12:12509400-12511800	Active TSS	Right Atrium	heart
9	chr12:12509600-12511000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr12:12509600-12511000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:12509600-12511000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:12509600-12511000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:12509600-12511000	Active TSS	Left Ventricle	heart
14	chr12:12509600-12511000	Active TSS	Ovary	ovary
15	chr12:12509600-12511200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr12:12509600-12511200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:12509600-12511200	Active TSS	Brain Substantia Nigra	brain
18	chr12:12509600-12511200	Active TSS	Right Ventricle	heart
19	chr12:12509600-12511400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr12:12509600-12511400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:12509600-12511400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:12509600-12511400	Active TSS	Colonic Mucosa	Colon
23	chr12:12509600-12511400	Active TSS	Fetal Muscle Trunk	muscle
24	chr12:12509600-12511400	Active TSS	HSMM	muscle
25	chr12:12509600-12511400	Active TSS	NHDF-Ad	bronchial
26	chr12:12509600-12511600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:12509600-12511600	Active TSS	Aorta	Aorta
28	chr12:12509600-12511600	Active TSS	Brain Angular Gyrus	brain
29	chr12:12509800-12511000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:12509800-12511000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:12509800-12511000	Active TSS	Brain Cingulate Gyrus	brain
32	chr12:12509800-12511000	Active TSS	Brain Hippocampus Middle	brain
33	chr12:12509800-12511000	Active TSS	A549	lung
34	chr12:12509800-12511200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr12:12509800-12511200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:12509800-12511400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:12509800-12511400	Active TSS	Esophagus	oesophagus
38	chr12:12509800-12511800	Active TSS	GM12878-XiMat	blood
39	chr12:12509800-12511800	Active TSS	K562	blood
40	chr12:12510000-12511000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr12:12510000-12511000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:12510000-12511000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:12510000-12511000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr12:12510000-12511000	Active TSS	Small Intestine	intestine
45	chr12:12510000-12511000	Active TSS	NHEK	skin
46	chr12:12510000-12511200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:12510000-12511600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:12510200-12511400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr12:12510200-12511600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr12:12510400-12511400	Flanking Active TSS	Adipose Nuclei	Adipose

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