Variant report

Variant	esv3388946
Chromosome Location	chr12:57588735-57591533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:244)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:57589423-57589588	K562	blood:	n/a	n/a
2	CTCF	chr12:57589760-57589910	K562	blood:	n/a	n/a
3	CTCF	chr12:57589907-57589916	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr12:57589820-57589970	NB4	blood:	n/a	n/a
5	CTCF	chr12:57589740-57589890	GM06990	blood:	n/a	n/a
6	CTCF	chr12:57589886-57589928	Gliobla	brain:	n/a	n/a
7	CTCF	chr12:57589760-57589910	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr12:57589802-57590142	K562	blood:	n/a	n/a
9	CTCF	chr12:57589780-57589930	GM06990	blood:	n/a	n/a
10	CTCF	chr12:57589820-57589970	HL-60	blood:	n/a	n/a
11	CTCF	chr12:57589812-57590033	GM12892	blood:	n/a	n/a
12	CTCF	chr12:57589878-57589978	GM19239	blood:	n/a	n/a
13	CTCF	chr12:57589800-57589950	GM12878	blood:	n/a	n/a
14	CTCF	chr12:57589777-57590047	K562	blood:	n/a	n/a
15	CTCF	chr12:57589878-57589943	NHEK	skin:	n/a	n/a
16	CTCF	chr12:57589863-57590029	GM12878	blood:	n/a	n/a
17	CTCF	chr12:57589830-57590005	GM12891	blood:	n/a	n/a
18	CTCF	chr12:57589884-57589891	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr12:57589808-57590030	K562	blood:	n/a	n/a
20	CTCF	chr12:57589842-57589999	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:57589803-57590068	K562	blood:	n/a	n/a
22	CTCF	chr12:57589840-57589981	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:57589800-57589950	BE2_C	brain:	n/a	n/a
24	CTCF	chr12:57589876-57589945	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr12:57589895-57589955	MCF-7	breast:	n/a	n/a
26	CTCF	chr12:57589840-57589990	BE2_C	brain:	n/a	n/a
27	CTCF	chr12:57589887-57589950	GM12878	blood:	n/a	n/a
28	CTCF	chr12:57589800-57589950	K562	blood:	n/a	n/a
29	CTCF	chr12:57589806-57590080	K562	blood:	n/a	n/a
30	E2F6	chr12:57589020-57589196	K562	blood:	n/a	n/a
31	GABPA	chr12:57590548-57591027	K562	blood:	n/a	n/a
32	HMGN3	chr12:57590823-57590952	K562	blood:	n/a	n/a
33	MAFF	chr12:57590169-57590295	K562	blood:	n/a	chr12:57590227-57590245
34	MAFF	chr12:57590064-57590376	HepG2	liver:	n/a	chr12:57590227-57590245
35	MAFK	chr12:57590116-57590414	HepG2	liver:	n/a	chr12:57590229-57590244
36	MAFK	chr12:57590070-57590404	HepG2	liver:	n/a	chr12:57590229-57590244
37	MAFK	chr12:57590127-57590394	IMR90	lung:	n/a	chr12:57590229-57590244
38	MAX	chr12:57589064-57589208	NB4	blood:	n/a	chr12:57589194-57589204 chr12:57589194-57589204
39	MAX	chr12:57589055-57589250	K562	blood:	n/a	chr12:57589194-57589204 chr12:57589194-57589204
40	MAX	chr12:57588988-57589002	HepG2	liver:	n/a	n/a
41	MAX	chr12:57588952-57589277	K562	blood:	n/a	chr12:57589194-57589204 chr12:57589194-57589204
42	MAZ	chr12:57589863-57589955	K562	blood:	n/a	n/a
43	POLR2A	chr12:57589540-57590613	U87	brain:	n/a	n/a
44	POLR2A	chr12:57589879-57590401	U87	brain:	n/a	n/a
45	POLR2A	chr12:57589525-57589622	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr12:57590821-57591460	HepG2	liver:	n/a	n/a
47	POLR2A	chr12:57588411-57589329	U87	brain:	n/a	n/a
48	POLR2A	chr12:57589146-57589175	HepG2	liver:	n/a	n/a
49	POLR2A	chr12:57590878-57590965	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr12:57590993-57591107	H1-hESC	embryonic stem cell:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57589740-57589790	HIPEpiC	eye:	n/a
2	chr12:57590920-57590970	HCT-116	colon:	n/a
3	chr12:57591104-57591154	HEEpiC	esophagus:	n/a
4	chr12:57591104-57591154	U87	brain:	n/a
5	chr12:57591104-57591154	HNPCEpiC	eye:	n/a
6	chr12:57589740-57589790	BE2_C	brain:	n/a
7	chr12:57589740-57589790	NH-A	brain:	n/a
8	chr12:57589253-57589303	NHDF-neo	bronchial:	n/a
9	chr12:57589740-57589790	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:57589253-57589303	AG09309	skin:	n/a
11	chr12:57589740-57589790	U87	brain:	n/a
12	chr12:57589253-57589303	GM06990	blood:	n/a
13	chr12:57591104-57591154	ProgFib	skin:	n/a
14	chr12:57591104-57591154	PrEC	prostate:	n/a
15	chr12:57589740-57589790	NHDF-neo	bronchial:	n/a
16	chr12:57589740-57589790	SKMC	muscle:	n/a
17	chr12:57589740-57589790	RPTEC	kidney:	n/a
18	chr12:57589740-57589790	GM06990	blood:	n/a
19	chr12:57589253-57589303	PFSK-1	brain:	n/a
20	chr12:57589253-57589303	HRCEpiC	kidney:	n/a
21	chr12:57591104-57591154	GM06990	blood:	n/a
22	chr12:57591104-57591154	HEK293	kidney:	embryo
23	chr12:57589253-57589303	GM12878	blood:	n/a
24	chr12:57591104-57591154	T-47D	breast:	n/a
25	chr12:57589740-57589790	Hela-S3	cervix:	n/a
26	chr12:57589253-57589303	AG04450	lung:	fetal
27	chr12:57589253-57589303	A549	lung:	n/a
28	chr12:57590920-57590970	GM12878	blood:	n/a
29	chr12:57589740-57589790	GM12891	blood:	n/a
30	chr12:57589740-57589790	MCF10A-Er-Src	breast:	n/a
31	chr12:57589740-57589790	BJ	skin:	n/a
32	chr12:57590920-57590970	AG09309	skin:	n/a
33	chr12:57591104-57591154	A549	lung:	n/a
34	chr12:57590920-57590970	T-47D	breast:	n/a
35	chr12:57589253-57589303	PrEC	prostate:	n/a
36	chr12:57591104-57591154	HMEC	breast:	n/a
37	chr12:57591104-57591154	NHBE	bronchial:	n/a
38	chr12:57589253-57589303	BJ	skin:	n/a
39	chr12:57591104-57591154	SAEC	small airway:	n/a
40	chr12:57589740-57589790	SK-N-MC	brain:	n/a
41	chr12:57591104-57591154	Hepatocyte	liver:	n/a
42	chr12:57589253-57589303	PANC-1	pancreas:	n/a
43	chr12:57591104-57591154	GM12891	blood:	n/a
44	chr12:57589253-57589303	HAEpiC	amniotic membrane:	n/a
45	chr12:57589253-57589303	K562	blood:	n/a
46	chr12:57589253-57589303	HepG2	liver:	n/a
47	chr12:57589253-57589303	ECC-1	luminal epithelium:	n/a
48	chr12:57589253-57589303	IMR90	lung:	fetal
49	chr12:57589253-57589303	HMEC	breast:	n/a
50	chr12:57589253-57589303	Hela-S3	cervix:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57589480..57590009-chr12:57632560..57633434,2	K562	blood:
2	chr12:57591340..57593244-chr12:57609273..57612150,2	K562	blood:
3	chr12:57588577..57592670-chr12:57606671..57608811,3	K562	blood:
4	chr12:57400299..57402687-chr12:57590687..57592398,2	MCF-7	breast:
5	chr12:57503818..57506681-chr12:57589566..57591485,2	K562	blood:
6	chr12:57586062..57588945-chr12:57630038..57631841,2	K562	blood:
7	chr12:57582255..57585186-chr12:57590822..57593487,2	MCF-7	breast:
8	chr12:57585370..57589160-chr12:57594423..57597879,4	K562	blood:
9	chr12:57587383..57589092-chr12:57594725..57596825,2	MCF-7	breast:
10	chr12:57588577..57590373-chr12:57606431..57608754,2	K562	blood:
11	chr12:57576887..57577443-chr12:57589478..57590363,2	K562	blood:
12	chr12:57568829..57570904-chr12:57589670..57592502,2	MCF-7	breast:
13	chr12:57579991..57582969-chr12:57586992..57588793,2	K562	blood:
14	chr12:57584008..57585901-chr12:57591267..57593221,2	MCF-7	breast:
15	chr12:57590967..57592740-chr12:57594355..57597058,2	K562	blood:
16	chr12:57586668..57589157-chr12:57592385..57594069,2	MCF-7	breast:
17	chr12:57589437..57590373-chr12:57637167..57637902,2	K562	blood:
18	chr12:57585543..57587547-chr12:57591115..57593361,2	MCF-7	breast:

No data

Variant related genes	Relation type
LRP1	TF binding region
LRP1	CpG island
ENSG00000185633	chromatin interactions
ENSG00000166888	chromatin interactions
ENSG00000123384	chromatin interactions
ENSG00000182379	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557873392	chr12:57588777-57588778	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370019430	chr12:57588778-57588779	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539458663	chr12:57588784-57588785	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372256969	chr12:57588830-57588831	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs35967775	chr12:57588838-57588839	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs149415384	chr12:57588839-57588840	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs200835075	chr12:57588868-57588869	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs377245190	chr12:57588905-57588906	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369831535	chr12:57588907-57588908	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561493636	chr12:57588930-57588931	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573588718	chr12:57588939-57588940	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544128193	chr12:57588949-57588950	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562846479	chr12:57588978-57588979	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397819817	chr12:57588979-57588980	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532949458	chr12:57588994-57588995	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371711699	chr12:57589007-57589008	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs367909257	chr12:57589016-57589017	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200147657	chr12:57589047-57589048	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146392489	chr12:57589064-57589065	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs1800142	chr12:57589067-57589068	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs202029441	chr12:57589106-57589107	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs143144259	chr12:57589107-57589108	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs146670367	chr12:57589117-57589118	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs148421667	chr12:57589131-57589132	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547080851	chr12:57589160-57589161	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs142564385	chr12:57589166-57589167	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs150972965	chr12:57589173-57589174	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs375066294	chr12:57589200-57589201	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369087498	chr12:57589207-57589208	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs147490871	chr12:57589254-57589255	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs529337599	chr12:57589265-57589266	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs148507374	chr12:57589281-57589282	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs574937147	chr12:57589284-57589285	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs141861874	chr12:57589293-57589294	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs558358028	chr12:57589297-57589298	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs567088722	chr12:57589300-57589301	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs533609194	chr12:57589303-57589304	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs200880472	chr12:57589392-57589393	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs377435139	chr12:57589395-57589396	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs150617835	chr12:57589396-57589397	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs373044717	chr12:57589413-57589414	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs376463988	chr12:57589421-57589422	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs201568895	chr12:57589430-57589431	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs35605204	chr12:57589445-57589446	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs146014667	chr12:57589448-57589449	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs147846383	chr12:57589460-57589461	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs200983312	chr12:57589493-57589494	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs141454378	chr12:57589510-57589511	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs556168198	chr12:57589511-57589512	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs77664066	chr12:57589553-57589554	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	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	21390271	CNVD
Cancer	20164919	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	17122850	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:57552800-57606800	Strong transcription	Fetal Intestine Large	intestine
5	chr12:57552800-57607000	Strong transcription	Liver	Liver
6	chr12:57553200-57607400	Strong transcription	Fetal Intestine Small	intestine
7	chr12:57557400-57606800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:57560800-57606200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:57560800-57606600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:57565800-57606600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:57566000-57604200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:57566600-57606200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:57569800-57600800	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr12:57570200-57606800	Strong transcription	Fetal Stomach	stomach
15	chr12:57570600-57606800	Strong transcription	Osteobl	bone
16	chr12:57570800-57605400	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr12:57576200-57605600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:57576200-57606400	Strong transcription	NHDF-Ad	bronchial
19	chr12:57576800-57604800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:57576800-57605000	Strong transcription	HSMMtube	muscle
21	chr12:57576800-57606600	Strong transcription	HepG2	liver
22	chr12:57576800-57607000	Strong transcription	Brain Germinal Matrix	brain
23	chr12:57577000-57591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:57577000-57600600	Strong transcription	Brain Cingulate Gyrus	brain
25	chr12:57577000-57600600	Strong transcription	Brain Substantia Nigra	brain
26	chr12:57577000-57606000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:57577000-57606400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr12:57577000-57606400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:57577000-57606400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr12:57577000-57606600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:57577000-57606800	Strong transcription	Colonic Mucosa	Colon
32	chr12:57577000-57606800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:57577000-57606800	Strong transcription	Ovary	ovary
34	chr12:57577200-57588800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:57577200-57591200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:57577200-57605800	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr12:57577200-57606000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:57577200-57606400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:57577200-57606400	Strong transcription	Aorta	Aorta
40	chr12:57577200-57606400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:57577200-57606400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr12:57577200-57606600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:57577200-57606800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr12:57577200-57606800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:57577200-57606800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:57577200-57606800	Weak transcription	A549	lung
47	chr12:57577400-57596200	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:57577400-57606600	Strong transcription	Esophagus	oesophagus
49	chr12:57577600-57606800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:57577600-57607200	Weak transcription	NHEK	skin

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