Variant report

Variant	esv3500853
Chromosome Location	chr12:118497894-118500567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:536)
CpG islands
(count:489)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:118499313-118499469	HepG2	liver:	n/a	n/a
2	ATF2	chr12:118499805-118500513	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr12:118498855-118499094	K562	blood:	n/a	n/a
4	ATF3	chr12:118498827-118499044	HepG2	liver:	n/a	n/a
5	ATF3	chr12:118498894-118499036	GM12878	blood:	n/a	n/a
6	BACH1	chr12:118498020-118498596	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr12:118499702-118500613	A549	lung:	n/a	n/a
8	BHLHE40	chr12:118500147-118500351	K562	blood:	n/a	n/a
9	BHLHE40	chr12:118498174-118498393	GM12878	blood:	n/a	n/a
10	BHLHE40	chr12:118498966-118499934	K562	blood:	n/a	n/a
11	BHLHE40	chr12:118498816-118499605	GM12878	blood:	n/a	n/a
12	BRCA1	chr12:118499462-118499467	GM12878	blood:	n/a	n/a
13	CBX3	chr12:118499675-118500583	K562	blood:	n/a	n/a
14	CCNT2	chr12:118499778-118500178	K562	blood:	n/a	n/a
15	CCNT2	chr12:118498421-118499086	K562	blood:	n/a	n/a
16	CEBPB	chr12:118498968-118498978	Hela-S3	cervix:	n/a	n/a
17	CEBPD	chr12:118498786-118499200	HepG2	liver:	n/a	n/a
18	CEBPD	chr12:118498842-118499509	K562	blood:	n/a	n/a
19	CEBPD	chr12:118498939-118499437	K562	blood:	n/a	n/a
20	CHD1	chr12:118499841-118500826	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr12:118498080-118498086	GM12878	blood:	n/a	n/a
22	CHD1	chr12:118499207-118499605	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr12:118499070-118499918	GM12878	blood:	n/a	chr12:118499202-118499212
24	CHD2	chr12:118498584-118500446	Hela-S3	cervix:	n/a	chr12:118499202-118499212
25	CHD2	chr12:118499815-118500344	K562	blood:	n/a	n/a
26	CHD2	chr12:118499081-118499584	GM12878	blood:	n/a	chr12:118499202-118499212
27	CHD2	chr12:118498255-118498264	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr12:118499282-118499492	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr12:118498756-118499143	A549	lung:	n/a	n/a
30	CTBP2	chr12:118499801-118500695	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr12:118499889-118499917	GM12891	blood:	n/a	n/a
32	CTCF	chr12:118500233-118500295	K562	blood:	n/a	n/a
33	CTCF	chr12:118499940-118500090	AG10803	skin:	n/a	n/a
34	CTCF	chr12:118499840-118500110	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr12:118499100-118499250	GM12864	blood:	n/a	n/a
36	CUX1	chr12:118499921-118500334	K562	blood:	n/a	n/a
37	CUX1	chr12:118499344-118499436	K562	blood:	n/a	n/a
38	E2F4	chr12:118499521-118499680	MCF10A-Er-Src	breast:	n/a	chr12:118499582-118499594
39	E2F4	chr12:118499891-118500285	MCF10A-Er-Src	breast:	n/a	chr12:118500198-118500209
40	E2F4	chr12:118498915-118500652	K562	blood:	n/a	chr12:118499157-118499166 chr12:118500198-118500209 chr12:118499582-118499594 chr12:118499157-118499169
41	E2F4	chr12:118498099-118498206	GM12878	blood:	n/a	n/a
42	E2F6	chr12:118500120-118500381	K562	blood:	n/a	n/a
43	E2F6	chr12:118499831-118500548	A549	lung:	n/a	n/a
44	E2F6	chr12:118498752-118499038	K562	blood:	n/a	n/a
45	E2F6	chr12:118498761-118499102	K562	blood:	n/a	n/a
46	E2F6	chr12:118499874-118500425	A549	lung:	n/a	n/a
47	E2F6	chr12:118499440-118499576	K562	blood:	n/a	n/a
48	EBF1	chr12:118499367-118499518	GM12878	blood:	n/a	chr12:118499372-118499383
49	EBF1	chr12:118498309-118498627	GM12878	blood:	n/a	chr12:118498494-118498505
50	EBF1	chr12:118498356-118498585	GM12878	blood:	n/a	chr12:118498494-118498505

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:118500366-118500416	HNPCEpiC	eye:	n/a
2	chr12:118500366-118500416	HNPCEpiC	eye:	n/a
3	chr12:118498675-118498725	Hepatocyte	liver:	n/a
4	chr12:118499016-118499066	RPTEC	kidney:	n/a
5	chr12:118499294-118499344	HCPEpiC	choroid plexus:	n/a
6	chr12:118500366-118500416	A549	lung:	n/a
7	chr12:118498668-118498718	PANC-1	pancreas:	n/a
8	chr12:118499294-118499344	HMEC	breast:	n/a
9	chr12:118499016-118499066	HRE	kidney:	n/a
10	chr12:118498668-118498718	IMR90	lung:	fetal
11	chr12:118499723-118499773	MCF10A-Er-Src	breast:	n/a
12	chr12:118498675-118498725	HMEC	breast:	n/a
13	chr12:118499294-118499344	AG04450	lung:	fetal
14	chr12:118500439-118500489	SKMC	muscle:	n/a
15	chr12:118498668-118498718	CMK	blood:	n/a
16	chr12:118498668-118498718	K562	blood:	n/a
17	chr12:118499294-118499344	SAEC	small airway:	n/a
18	chr12:118499723-118499773	HL-60	blood:	n/a
19	chr12:118499294-118499344	K562	blood:	n/a
20	chr12:118500481-118500531	SK-N-SH_RA	brain:	n/a
21	chr12:118499294-118499344	HRE	kidney:	n/a
22	chr12:118499294-118499344	HEK293	kidney:	embryo
23	chr12:118500481-118500531	AoSMC	blood vessel:	n/a
24	chr12:118499294-118499344	GM19239	blood:	n/a
25	chr12:118499016-118499066	H1-hESC	embryonic stem cell:	embryo
26	chr12:118500439-118500489	PrEC	prostate:	n/a
27	chr12:118499723-118499773	H1-hESC	embryonic stem cell:	embryo
28	chr12:118500439-118500489	HEK293	kidney:	embryo
29	chr12:118498675-118498725	NHBE	bronchial:	n/a
30	chr12:118498675-118498725	AG09319	gingival:	n/a
31	chr12:118498675-118498725	HEEpiC	esophagus:	n/a
32	chr12:118498675-118498725	AG04450	lung:	fetal
33	chr12:118498675-118498725	HRE	kidney:	n/a
34	chr12:118499294-118499344	T-47D	breast:	n/a
35	chr12:118500366-118500416	HEK293	kidney:	embryo
36	chr12:118498668-118498718	SAEC	small airway:	n/a
37	chr12:118499723-118499773	SAEC	small airway:	n/a
38	chr12:118500439-118500489	HepG2	liver:	n/a
39	chr12:118500366-118500416	GM06990	blood:	n/a
40	chr12:118498668-118498718	SK-N-SH_RA	brain:	n/a
41	chr12:118499723-118499773	SKMC	muscle:	n/a
42	chr12:118499016-118499066	U87	brain:	n/a
43	chr12:118498668-118498718	ProgFib	skin:	n/a
44	chr12:118500366-118500416	RPTEC	kidney:	n/a
45	chr12:118498675-118498725	ECC-1	luminal epithelium:	n/a
46	chr12:118498668-118498718	NB4	blood:	n/a
47	chr12:118499723-118499773	Jurkat	blood:	n/a
48	chr12:118499294-118499344	ECC-1	luminal epithelium:	n/a
49	chr12:118500481-118500531	HAEpiC	amniotic membrane:	n/a
50	chr12:118500439-118500489	GM12878	blood:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75273414..75274233-chr12:118498470..118499147,2	Hela-S3	cervix:
2	chr12:118499104..118499911-chr2:28614266..28615159,2	Hela-S3	cervix:
3	chr12:118498119..118500024-chr12:118572981..118575568,2	K562	blood:
4	chr12:118499217..118500774-chr12:118572851..118574591,2	MCF-7	breast:
5	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
6	chr1:109642248..109642947-chr12:118498776..118499544,2	Hela-S3	cervix:
7	chr12:118498416..118504096-chr12:118537510..118543393,12	MCF-7	breast:
8	chr12:118497809..118500285-chr12:118500321..118504066,7	MCF-7	breast:
9	chr12:118476730..118480005-chr12:118496581..118498795,3	K562	blood:
10	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
11	chr12:118450883..118457954-chr12:118495063..118502199,13	K562	blood:
12	chr12:118498235..118500819-chr9:19378763..19380360,2	MCF-7	breast:
13	chr12:118496924..118498642-chr12:118498871..118500606,2	MCF-7	breast:
14	chr12:118478007..118480005-chr12:118496581..118498795,2	K562	blood:
15	chr10:33623927..33624428-chr12:118499255..118500110,2	Hela-S3	cervix:
16	chr11:65193091..65193924-chr12:118499181..118499883,2	Hela-S3	cervix:
17	chr12:118499092..118500000-chr6:30524301..30524884,2	Hela-S3	cervix:
18	chr12:118499112..118499998-chr19:39902716..39903531,2	Hela-S3	cervix:
19	chr12:118453031..118454691-chr12:118496978..118499714,2	K562	blood:
20	chr12:118500316..118502003-chr12:118542187..118545128,2	K562	blood:
21	chr12:118498692..118501195-chr12:118558625..118560440,2	MCF-7	breast:

No data

Variant related genes	Relation type
WSB2	TF binding region
WSB2	CpG island
ENSG00000090924	chromatin interactions
ENSG00000111445	chromatin interactions
ENSG00000137154	chromatin interactions
ENSG00000089220	chromatin interactions
ENSG00000204576	chromatin interactions
ENSG00000099250	chromatin interactions
ENSG00000149257	chromatin interactions
ENSG00000270066	chromatin interactions
ENSG00000176834	chromatin interactions
ENSG00000176871	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558587498	chr12:118497927-118497928	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs377344969	chr12:118498002-118498003	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs536423001	chr12:118498038-118498039	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs574840183	chr12:118498046-118498047	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs75356056	chr12:118498087-118498088	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs554283415	chr12:118498098-118498099	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs75808300	chr12:118498102-118498103	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs149035616	chr12:118498150-118498151	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs563142758	chr12:118498191-118498192	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs531814826	chr12:118498331-118498332	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs182485877	chr12:118498357-118498358	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs565454672	chr12:118498369-118498370	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs377757315	chr12:118498401-118498402	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs527265053	chr12:118498433-118498434	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs143802874	chr12:118498527-118498528	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs567012408	chr12:118498554-118498555	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs529787729	chr12:118498568-118498569	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs549614811	chr12:118498587-118498588	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs569794123	chr12:118498589-118498590	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs538472874	chr12:118498616-118498617	Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs370278171	chr12:118498627-118498628	Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs374989488	chr12:118498641-118498642	Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs371352502	chr12:118498713-118498714	Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs545315231	chr12:118498996-118498997	Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs554246298	chr12:118499053-118499054	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs574176472	chr12:118499055-118499056	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs536701756	chr12:118499105-118499106	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs556390971	chr12:118499113-118499114	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs12818975	chr12:118499118-118499119	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs148170944	chr12:118499143-118499144	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs142026288	chr12:118499147-118499148	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs7484385	chr12:118499182-118499183	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs12819129	chr12:118499197-118499198	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs565215605	chr12:118499206-118499207	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs572448006	chr12:118499222-118499223	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs7484410	chr12:118499251-118499252	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs540621991	chr12:118499254-118499255	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs112890460	chr12:118499255-118499256	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs79950936	chr12:118499274-118499275	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs145096561	chr12:118499320-118499321	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs138986796	chr12:118499340-118499341	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs552923602	chr12:118499362-118499363	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs60432513	chr12:118499386-118499387	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374294553	chr12:118499436-118499437	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs552118289	chr12:118499488-118499489	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs60550237	chr12:118499494-118499495	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
47	rs118101112	chr12:118499497-118499498	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs111860506	chr12:118499499-118499500	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs550724850	chr12:118499598-118499599	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs148182603	chr12:118499630-118499631	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118481000-118498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:118494200-118498000	Weak transcription	Gastric	stomach
3	chr12:118494200-118498000	Weak transcription	Spleen	Spleen
4	chr12:118496400-118498000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:118496800-118498000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:118496800-118498200	Flanking Active TSS	A549	lung
7	chr12:118496800-118501600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:118497000-118498000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:118497000-118498200	Flanking Active TSS	NH-A	brain
10	chr12:118497000-118498400	Flanking Active TSS	Osteobl	bone
11	chr12:118497000-118499800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:118497000-118500400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:118497000-118501000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:118497000-118501000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:118497200-118498000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:118497200-118498000	Enhancers	Small Intestine	intestine
17	chr12:118497200-118498000	Active TSS	GM12878-XiMat	blood
18	chr12:118497200-118498200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:118497200-118498200	Flanking Active TSS	Stomach Mucosa	stomach
20	chr12:118497200-118498200	Flanking Active TSS	HMEC	breast
21	chr12:118497200-118498200	Flanking Active TSS	HUVEC	blood vessel
22	chr12:118497200-118498200	Flanking Active TSS	K562	blood
23	chr12:118497200-118498200	Flanking Active TSS	NHEK	skin
24	chr12:118497200-118498400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr12:118497200-118498400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:118497200-118498600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr12:118497200-118500400	Active TSS	HSMMtube	muscle
28	chr12:118497200-118500800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:118497200-118501200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr12:118497400-118498000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr12:118497400-118498000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:118497400-118498000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr12:118497400-118498000	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr12:118497400-118498000	Active TSS	Right Atrium	heart
35	chr12:118497400-118498000	Flanking Active TSS	HepG2	liver
36	chr12:118497400-118498000	Flanking Active TSS	HSMM	muscle
37	chr12:118497400-118498200	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr12:118497400-118498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:118497400-118498200	Flanking Active TSS	Hela-S3	cervix
40	chr12:118497400-118498400	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr12:118497400-118498400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:118497400-118498400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr12:118497400-118498400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr12:118497400-118498400	Flanking Active TSS	Liver	Liver
45	chr12:118497400-118498400	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr12:118497400-118498400	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr12:118497400-118498400	Flanking Active TSS	Fetal Lung	lung
48	chr12:118497400-118498400	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr12:118497400-118498400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr12:118497400-118498400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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