Variant report

Variant	esv20867
Chromosome Location	chr12:57110564-57115506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:275)
CpG islands
(count:122)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr12:57115135-57115381	K562	blood:	n/a	n/a
2	CTCF	chr12:57115120-57115192	MCF-7	breast:	n/a	n/a
3	CTCF	chr12:57114228-57114229	K562	blood:	n/a	n/a
4	CTCF	chr12:57110520-57110670	GM12866	blood:	n/a	n/a
5	CUX1	chr12:57114356-57114528	K562	blood:	n/a	n/a
6	EP300	chr12:57115212-57115447	K562	blood:	n/a	n/a
7	EP300	chr12:57114330-57114346	K562	blood:	n/a	n/a
8	EP300	chr12:57111548-57111863	GM12878	blood:	n/a	n/a
9	EP300	chr12:57111556-57111748	GM12878	blood:	n/a	n/a
10	HEY1	chr12:57113606-57114096	K562	blood:	n/a	n/a
11	HEY1	chr12:57110928-57111323	K562	blood:	n/a	n/a
12	HEY1	chr12:57111571-57111955	HepG2	liver:	n/a	n/a
13	HEY1	chr12:57115025-57115845	K562	blood:	n/a	n/a
14	HEY1	chr12:57111440-57112682	K562	blood:	n/a	n/a
15	HEY1	chr12:57115229-57115415	K562	blood:	n/a	n/a
16	HEY1	chr12:57110055-57110696	K562	blood:	n/a	n/a
17	HEY1	chr12:57111470-57111835	K562	blood:	n/a	n/a
18	HEY1	chr12:57111540-57111862	HepG2	liver:	n/a	n/a
19	HEY1	chr12:57112810-57113091	K562	blood:	n/a	n/a
20	HEY1	chr12:57114383-57114894	K562	blood:	n/a	n/a
21	JUND	chr12:57114228-57114358	K562	blood:	n/a	n/a
22	JUND	chr12:57115128-57115276	K562	blood:	n/a	n/a
23	MAZ	chr12:57115100-57115332	K562	blood:	n/a	n/a
24	MAZ	chr12:57114201-57114210	K562	blood:	n/a	n/a
25	MTA3	chr12:57112012-57112430	GM12878	blood:	n/a	n/a
26	MXI1	chr12:57114456-57114484	GM12878	blood:	n/a	n/a
27	NFATC1	chr12:57114420-57115142	GM12878	blood:	n/a	n/a
28	NFATC1	chr12:57115264-57116083	GM12878	blood:	n/a	n/a
29	NR2F2	chr12:57114893-57115469	K562	blood:	n/a	n/a
30	POLR2A	chr12:57112485-57113147	GM12891	blood:	n/a	n/a
31	POLR2A	chr12:57112034-57112542	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr12:57110781-57111172	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:57113259-57113718	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr12:57112836-57113480	MCF-7	breast:	n/a	n/a
35	POLR2A	chr12:57113730-57114401	U87	brain:	n/a	n/a
36	POLR2A	chr12:57109829-57110731	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr12:57109291-57111137	K562	blood:	n/a	n/a
38	POLR2A	chr12:57113541-57113560	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:57113331-57113335	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr12:57110765-57111561	MCF-7	breast:	n/a	n/a
41	POLR2A	chr12:57112961-57113246	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr12:57110871-57111594	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr12:57110559-57110671	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr12:57111463-57112022	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:57110695-57110710	HepG2	liver:	n/a	n/a
46	POLR2A	chr12:57113954-57114976	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:57113735-57114437	U87	brain:	n/a	n/a
48	POLR2A	chr12:57112810-57113359	HepG2	liver:	n/a	n/a
49	POLR2A	chr12:57113704-57113981	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr12:57109564-57110655	GM12892	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57114435-57114485	IMR90	lung:	fetal
2	chr12:57114435-57114485	SAEC	small airway:	n/a
3	chr12:57114435-57114485	ProgFib	skin:	n/a
4	chr12:57114435-57114485	NT2-D1	testis:	n/a
5	chr12:57114435-57114485	NH-A	brain:	n/a
6	chr12:57114435-57114485	GM12891	blood:	n/a
7	chr12:57114435-57114485	Jurkat	blood:	n/a
8	chr12:57114435-57114485	GM12892	blood:	n/a
9	chr12:57113463-57113513	ECC-1	luminal epithelium:	n/a
10	chr12:57113463-57113513	NT2-D1	testis:	n/a
11	chr12:57114435-57114485	PrEC	prostate:	n/a
12	chr12:57114435-57114485	NB4	blood:	n/a
13	chr12:57114435-57114485	SK-N-SH_RA	brain:	n/a
14	chr12:57113463-57113513	GM12878	blood:	n/a
15	chr12:57113463-57113513	GM19239	blood:	n/a
16	chr12:57113463-57113513	HNPCEpiC	eye:	n/a
17	chr12:57114435-57114485	BJ	skin:	n/a
18	chr12:57113463-57113513	PrEC	prostate:	n/a
19	chr12:57114435-57114485	PANC-1	pancreas:	n/a
20	chr12:57114435-57114485	HEEpiC	esophagus:	n/a
21	chr12:57114435-57114485	HNPCEpiC	eye:	n/a
22	chr12:57114435-57114485	GM06990	blood:	n/a
23	chr12:57114435-57114485	MCF-7	breast:	n/a
24	chr12:57113463-57113513	Hela-S3	cervix:	n/a
25	chr12:57114435-57114485	HRPEpiC	eye:	n/a
26	chr12:57114435-57114485	HIPEpiC	eye:	n/a
27	chr12:57113463-57113513	SK-N-SH_RA	brain:	n/a
28	chr12:57113463-57113513	HCPEpiC	choroid plexus:	n/a
29	chr12:57113463-57113513	SK-N-MC	brain:	n/a
30	chr12:57114435-57114485	GM19239	blood:	n/a
31	chr12:57114435-57114485	SK-N-SH	brain:	n/a
32	chr12:57113463-57113513	SK-N-SH	brain:	n/a
33	chr12:57114435-57114485	HUVEC	blood vessel:	n/a
34	chr12:57114435-57114485	HCT-116	colon:	n/a
35	chr12:57113463-57113513	HRCEpiC	kidney:	n/a
36	chr12:57113463-57113513	A549	lung:	n/a
37	chr12:57114435-57114485	Hepatocyte	liver:	n/a
38	chr12:57113463-57113513	NHDF-neo	bronchial:	n/a
39	chr12:57113463-57113513	IMR90	lung:	fetal
40	chr12:57114435-57114485	GM12878	blood:	n/a
41	chr12:57113463-57113513	HEK293	kidney:	embryo
42	chr12:57113463-57113513	AoSMC	blood vessel:	n/a
43	chr12:57113463-57113513	HL-60	blood:	n/a
44	chr12:57114435-57114485	HCM	heart:	n/a
45	chr12:57113463-57113513	BE2_C	brain:	n/a
46	chr12:57114435-57114485	SK-N-MC	brain:	n/a
47	chr12:57114435-57114485	RPTEC	kidney:	n/a
48	chr12:57114435-57114485	NHDF-neo	bronchial:	n/a
49	chr12:57113463-57113513	ProgFib	skin:	n/a
50	chr12:57114435-57114485	Caco-2	colon:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57036938..57041843-chr12:57115310..57120529,12	K562	blood:
2	chr12:57038025..57041646-chr12:57113711..57120620,12	MCF-7	breast:
3	chr12:57113713..57116326-chr12:57145534..57147437,2	MCF-7	breast:
4	chr12:57111474..57114081-chr12:57143216..57146135,2	MCF-7	breast:
5	chr12:57091435..57092961-chr12:57113686..57115355,2	K562	blood:
6	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
7	chr12:57036857..57041663-chr12:57115375..57121628,17	MCF-7	breast:
8	chr12:57079048..57083970-chr12:57107938..57112602,6	K562	blood:
9	chr12:57022951..57032187-chr12:57113330..57121462,17	K562	blood:
10	chr12:56510526..56513327-chr12:57111291..57113363,2	K562	blood:
11	chr12:57112603..57114130-chr12:57504633..57506166,2	K562	blood:
12	chr12:57029529..57031708-chr12:57108822..57111712,2	K562	blood:
13	chr12:57115452..57117913-chr12:57483111..57485379,2	K562	blood:
14	chr12:57078008..57083064-chr12:57107591..57112002,6	MCF-7	breast:
15	chr12:57076604..57085974-chr12:57112559..57120474,46	MCF-7	breast:
16	chr12:57112436..57114253-chr12:57144608..57146371,2	K562	blood:
17	chr12:57035906..57041425-chr12:57115344..57122353,14	K562	blood:
18	chr12:57113663..57115512-chr12:57124278..57127097,2	K562	blood:
19	chr12:57025967..57028369-chr12:57109076..57111615,2	K562	blood:
20	chr12:57091041..57092738-chr12:57114705..57116928,2	MCF-7	breast:
21	chr12:57075341..57085478-chr12:57112447..57121011,58	MCF-7	breast:
22	chr12:57078475..57085183-chr12:57112918..57121559,38	K562	blood:
23	chr12:57113156..57115169-chr12:57146013..57147663,2	K562	blood:
24	chr12:57026523..57033046-chr12:57115223..57120839,17	MCF-7	breast:

No data

Variant related genes	Relation type
NACA	TF binding region
NACA	CpG island
ENSG00000110955	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000207031	chromatin interactions
ENSG00000025423	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000166888	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000196531	chromatin interactions
ENSG00000076108	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000198056	chromatin interactions

Extended variants
information (count: 296 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202204935	chr12:57110577-57110578	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs564142402	chr12:57110614-57110615	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs528063005	chr12:57110620-57110621	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs376889735	chr12:57110654-57110655	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546721072	chr12:57110721-57110722	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs61937760	chr12:57110723-57110724	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs568115356	chr12:57110724-57110725	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs187055425	chr12:57110785-57110786	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs372503104	chr12:57110793-57110794	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs199681422	chr12:57110807-57110808	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs539747122	chr12:57110825-57110826	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs557754386	chr12:57110860-57110861	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs570866733	chr12:57110900-57110901	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs534707813	chr12:57110901-57110902	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs370947040	chr12:57110910-57110911	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs375028867	chr12:57110924-57110925	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs543739737	chr12:57110946-57110947	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs553055862	chr12:57110962-57110963	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs368371411	chr12:57110973-57110974	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs574552110	chr12:57110989-57110990	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs375605609	chr12:57110996-57110997	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs557107249	chr12:57111041-57111042	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs372666259	chr12:57111042-57111043	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs200989071	chr12:57111078-57111079	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs575729172	chr12:57111079-57111080	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs74526969	chr12:57111118-57111119	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs564621032	chr12:57111135-57111136	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs528092400	chr12:57111139-57111140	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs200863350	chr12:57111189-57111190	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs561780372	chr12:57111227-57111228	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs200363394	chr12:57111229-57111230	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs201868752	chr12:57111230-57111231	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs369112398	chr12:57111256-57111257	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs372859301	chr12:57111296-57111297	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs550672821	chr12:57111320-57111321	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs376361769	chr12:57111331-57111332	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs200603549	chr12:57111342-57111343	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs533529104	chr12:57111353-57111354	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs569066313	chr12:57111357-57111358	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs369635295	chr12:57111397-57111398	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs373860894	chr12:57111415-57111416	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs377020953	chr12:57111446-57111447	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs370285956	chr12:57111447-57111448	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs552914942	chr12:57111451-57111452	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs191529968	chr12:57111457-57111458	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs377411438	chr12:57111459-57111460	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs370481244	chr12:57111470-57111471	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs199531072	chr12:57111493-57111494	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs557025513	chr12:57111495-57111496	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs201741745	chr12:57111496-57111497	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Thoracic aortic aneurysm	21092924	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
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57104000-57114600	Weak transcription	Fetal Brain Male	brain
2	chr12:57104600-57112600	Strong transcription	Fetal Intestine Large	intestine
3	chr12:57104600-57115000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:57104800-57110600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:57104800-57110600	Strong transcription	Osteobl	bone
6	chr12:57104800-57111000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:57104800-57111200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:57104800-57111200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:57104800-57111200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:57104800-57111200	Strong transcription	HSMM	muscle
11	chr12:57104800-57111400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:57105000-57110600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr12:57105000-57110600	Strong transcription	HepG2	liver
14	chr12:57105000-57110600	Strong transcription	NHDF-Ad	bronchial
15	chr12:57105000-57110800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr12:57105000-57111200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:57105000-57111400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:57105000-57111600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:57105200-57110600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:57105200-57111200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:57105200-57112200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:57105800-57112200	Weak transcription	Fetal Heart	heart
23	chr12:57106000-57110600	Strong transcription	Brain Anterior Caudate	brain
24	chr12:57106000-57111000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:57106400-57111000	Strong transcription	NHLF	lung
26	chr12:57106400-57111200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:57107400-57113800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:57107600-57110600	Genic enhancers	Fetal Thymus	thymus
29	chr12:57107600-57111400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:57107800-57112600	Weak transcription	Fetal Kidney	kidney
31	chr12:57108400-57110800	Genic enhancers	Thymus	Thymus
32	chr12:57108400-57115400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:57108600-57110600	Genic enhancers	HMEC	breast
34	chr12:57108600-57117200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:57108800-57110600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:57109000-57110800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:57109000-57111200	Strong transcription	NHEK	skin
38	chr12:57109200-57111600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:57109200-57116200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:57109400-57110600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:57109400-57110600	Genic enhancers	GM12878-XiMat	blood
42	chr12:57109400-57111200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:57109400-57111400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:57109400-57112000	Strong transcription	Fetal Intestine Small	intestine
45	chr12:57109400-57114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:57109600-57110600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr12:57109600-57110600	Genic enhancers	Liver	Liver
48	chr12:57109600-57110600	Genic enhancers	Left Ventricle	heart
49	chr12:57109600-57110600	Genic enhancers	Ovary	ovary
50	chr12:57109600-57110600	Genic enhancers	Right Ventricle	heart

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