Variant report

Variant	esv1847541
Chromosome Location	chr12:50341465-50355864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:172)
CpG islands
(count:1281)
Chromatin interactive
region (count:23)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:172 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:50348124-50348453	K562	blood:	n/a	n/a
2	CBX3	chr12:50342834-50343091	K562	blood:	n/a	n/a
3	CCNT2	chr12:50344176-50344311	K562	blood:	n/a	n/a
4	CEBPB	chr12:50341749-50341832	HepG2	liver:	n/a	n/a
5	CEBPB	chr12:50342941-50342956	K562	blood:	n/a	n/a
6	CEBPB	chr12:50349648-50349830	HepG2	liver:	n/a	chr12:50349769-50349780
7	CEBPB	chr12:50349758-50349786	Hela-S3	cervix:	n/a	chr12:50349769-50349780
8	CEBPB	chr12:50346977-50347377	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr12:50353482-50354376	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr12:50348980-50349130	NHEK	skin:	n/a	n/a
11	CTCF	chr12:50348982-50349074	NHEK	skin:	n/a	n/a
12	CTCF	chr12:50348040-50348190	GM12875	blood:	n/a	n/a
13	CTCF	chr12:50347821-50347875	H1-hESC	embryonic stem cell:	n/a	chr12:50347845-50347854 chr12:50347842-50347852 chr12:50347859-50347867
14	CTCF	chr12:50348986-50349059	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr12:50348920-50349070	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr12:50348880-50349030	AG04449	skin:	n/a	n/a
17	CTCF	chr12:50347740-50347890	GM12864	blood:	n/a	chr12:50347845-50347854 chr12:50347842-50347852 chr12:50347859-50347867
18	CTCF	chr12:50347760-50347910	WERI-Rb-1	eye:	n/a	chr12:50347845-50347854 chr12:50347842-50347852 chr12:50347859-50347867
19	CTCF	chr12:50346041-50346074	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chr12:50348880-50349030	GM12871	blood:	n/a	n/a
21	CTCF	chr12:50348980-50349130	HCM	heart:	n/a	n/a
22	CTCF	chr12:50348900-50349050	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr12:50348940-50349090	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr12:50348920-50349070	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr12:50345950-50346129	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr12:50349005-50349040	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr12:50345943-50346106	Lung_OC	lung:	n/a	n/a
28	CTCF	chr12:50348920-50349070	AG04449	skin:	n/a	n/a
29	CTCF	chr12:50348940-50349090	NB4	blood:	n/a	n/a
30	CTCF	chr12:50349940-50350090	NB4	blood:	n/a	n/a
31	CTCF	chr12:50348940-50349030	Fibrobl	skin:	n/a	n/a
32	E2F6	chr12:50355020-50355563	H1-hESC	embryonic stem cell:	n/a	n/a
33	E2F6	chr12:50355662-50356123	H1-hESC	embryonic stem cell:	n/a	chr12:50355673-50355688
34	E2F6	chr12:50349104-50349569	H1-hESC	embryonic stem cell:	n/a	chr12:50349141-50349150 chr12:50349113-50349123
35	E2F6	chr12:50355084-50355660	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F6	chr12:50348906-50349736	H1-hESC	embryonic stem cell:	n/a	chr12:50349141-50349150 chr12:50349113-50349123
37	ELK1	chr12:50353566-50354007	Hela-S3	cervix:	n/a	n/a
38	EP300	chr12:50353464-50353940	T-47D	breast:	n/a	chr12:50353688-50353697 chr12:50353740-50353750
39	EP300	chr12:50353516-50353889	Hela-S3	cervix:	n/a	chr12:50353688-50353697 chr12:50353740-50353750
40	EP300	chr12:50353164-50354485	ECC-1	luminal epithelium:	n/a	chr12:50353688-50353697 chr12:50353434-50353448 chr12:50353740-50353750
41	EP300	chr12:50353506-50354139	SK-N-SH	brain:	n/a	chr12:50353688-50353697 chr12:50353740-50353750
42	ESR1	chr12:50353466-50353852	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
43	ESR1	chr12:50353468-50353790	T-47D	breast:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
44	ESR1	chr12:50353317-50354005	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
45	ESR1	chr12:50353504-50353847	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
46	ESR1	chr12:50353291-50354024	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
47	ESR1	chr12:50353464-50353822	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
48	ESR1	chr12:50353448-50354008	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
49	FOS	chr12:50353633-50353833	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr12:50353631-50353825	MCF10A-Er-Src	breast:	n/a	n/a

(count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50349307-50349357	BE2_C	brain:	n/a
2	chr12:50344211-50344261	HL-60	blood:	n/a
3	chr12:50344475-50344525	HUVEC	blood vessel:	n/a
4	chr12:50344289-50344339	SK-N-MC	brain:	n/a
5	chr12:50347628-50347678	AG09309	skin:	n/a
6	chr12:50354962-50355012	HEK293	kidney:	embryo
7	chr12:50355821-50355871	GM12891	blood:	n/a
8	chr12:50350299-50350349	AG09319	gingival:	n/a
9	chr12:50350299-50350349	ECC-1	luminal epithelium:	n/a
10	chr12:50347628-50347678	HepG2	liver:	n/a
11	chr12:50351980-50352030	ProgFib	skin:	n/a
12	chr12:50344475-50344525	T-47D	breast:	n/a
13	chr12:50344463-50344513	T-47D	breast:	n/a
14	chr12:50344475-50344525	A549	lung:	n/a
15	chr12:50354998-50355048	BE2_C	brain:	n/a
16	chr12:50344211-50344261	AG10803	skin:	n/a
17	chr12:50344211-50344261	U87	brain:	n/a
18	chr12:50344548-50344598	HRCEpiC	kidney:	n/a
19	chr12:50344289-50344339	AG04449	skin:	fetal
20	chr12:50344211-50344261	HRE	kidney:	n/a
21	chr12:50349522-50349572	K562	blood:	n/a
22	chr12:50355307-50355357	AG09319	gingival:	n/a
23	chr12:50349173-50349223	NT2-D1	testis:	n/a
24	chr12:50349307-50349357	HCM	heart:	n/a
25	chr12:50353951-50354001	HRPEpiC	eye:	n/a
26	chr12:50344463-50344513	HCF	heart:	n/a
27	chr12:50354840-50354890	GM19239	blood:	n/a
28	chr12:50354962-50355012	HL-60	blood:	n/a
29	chr12:50344289-50344339	RPTEC	kidney:	n/a
30	chr12:50344211-50344261	NHBE	bronchial:	n/a
31	chr12:50355821-50355871	HL-60	blood:	n/a
32	chr12:50344211-50344261	SK-N-SH	brain:	n/a
33	chr12:50349522-50349572	RPTEC	kidney:	n/a
34	chr12:50344463-50344513	HRPEpiC	eye:	n/a
35	chr12:50354998-50355048	PFSK-1	brain:	n/a
36	chr12:50344463-50344513	SK-N-SH	brain:	n/a
37	chr12:50349307-50349357	Hepatocyte	liver:	n/a
38	chr12:50354962-50355012	AG04450	lung:	fetal
39	chr12:50344463-50344513	AG04450	lung:	fetal
40	chr12:50344458-50344508	HepG2	liver:	n/a
41	chr12:50355307-50355357	SAEC	small airway:	n/a
42	chr12:50344458-50344508	Hepatocyte	liver:	n/a
43	chr12:50344463-50344513	IMR90	lung:	fetal
44	chr12:50344463-50344513	SKMC	muscle:	n/a
45	chr12:50344626-50344676	HIPEpiC	eye:	n/a
46	chr12:50349307-50349357	HepG2	liver:	n/a
47	chr12:50347628-50347678	PANC-1	pancreas:	n/a
48	chr12:50351980-50352030	U87	brain:	n/a
49	chr12:50354998-50355048	GM12891	blood:	n/a
50	chr12:50347628-50347678	LNCaP	prostate:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50347500..50349334-chr12:50448823..50450713,2	MCF-7	breast:
2	chr12:50340163..50342999-chr12:50343343..50345354,2	MCF-7	breast:
3	chr12:50338638..50340255-chr12:50342218..50344321,2	K562	blood:
4	chr12:50235392..50237047-chr12:50351829..50354017,3	MCF-7	breast:
5	chr12:50347426..50349461-chr12:50350672..50352646,2	K562	blood:
6	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:
7	chr12:50331819..50333372-chr12:50347324..50349473,2	MCF-7	breast:
8	chr12:50348137..50350764-chr12:50360835..50363285,2	K562	blood:
9	chr12:50336938..50340319-chr12:50341822..50344338,4	K562	blood:
10	chr12:50341404..50344763-chr12:50349477..50352440,3	MCF-7	breast:
11	chr12:50341404..50344763-chr12:50349477..50352440,3	MCF-7	breast:
12	chr1:17231927..17232615-chr12:50353208..50354029,2	Hela-S3	cervix:
13	chr12:50348029..50350628-chr12:50451106..50452724,2	MCF-7	breast:
14	chr12:50353349..50353967-chr7:86781674..86782611,2	Hela-S3	cervix:
15	chr12:50340512..50342652-chr12:50346476..50349381,2	MCF-7	breast:
16	chr12:50334465..50337544-chr12:50338372..50341772,4	K562	blood:
17	chr12:50335624..50338438-chr12:50341957..50344338,2	K562	blood:
18	chr12:50353124..50353737-chr4:120987285..120988120,2	Hela-S3	cervix:
19	chr12:50292614..50294195-chr12:50340396..50343074,2	K562	blood:
20	chr12:50347426..50349461-chr12:50350672..50352646,2	K562	blood:
21	chr12:50343242..50347399-chr12:50348384..50352542,7	K562	blood:
22	chr12:50343242..50347399-chr12:50348384..50352542,7	K562	blood:
23	chr12:50340512..50342652-chr12:50346476..50349381,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RACGAP1-1	chr12:50345702-50345871	ENSG00000257588.1
2	lnc-RACGAP1-1	chr12:50345295-50345452	ENSG00000257588.1
3	lnc-RACGAP1-1	chr12:50352655-50353427	ENSG00000257588.1
4	lnc-RACGAP1-2	chr12:50348422-50348440	ENSG00000257378.1
5	lnc-RACGAP1-2	chr12:50349368-50349908	ENSG00000257378.1

No data

Variant related genes	Relation type
ENSG00000257378	TF binding region
AQP2	TF binding region
AQP5	TF binding region
ENSG00000257378	CpG island
AQP2	CpG island
AQP5	CpG island
ENSG00000186666	chromatin interactions
ENSG00000161798	chromatin interactions
ENSG00000224046	chromatin interactions
ENSG00000135164	chromatin interactions
ENSG00000250938	chromatin interactions
ENSG00000086159	chromatin interactions
ENSG00000110881	chromatin interactions
ENSG00000135472	chromatin interactions
ENSG00000257378	chromatin interactions
ENSG00000167580	chromatin interactions
ENSG00000164109	chromatin interactions

Extended variants
information (count: 632 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7305290	chr12:50341465-50341466	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181902383	chr12:50341471-50341472	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs186219307	chr12:50341512-50341513	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs7305534	chr12:50341610-50341611	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs555077178	chr12:50341624-50341625	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs147310712	chr12:50341625-50341626	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs140914534	chr12:50341632-50341633	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs560436371	chr12:50341682-50341683	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs296736	chr12:50341707-50341708	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs546171019	chr12:50341725-50341726	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562539774	chr12:50341729-50341730	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs531187840	chr12:50341772-50341773	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs547756756	chr12:50341797-50341798	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs567829726	chr12:50341814-50341815	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs527345087	chr12:50341853-50341854	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs79066828	chr12:50341880-50341881	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs570550582	chr12:50341897-50341898	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs144772793	chr12:50341926-50341927	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs556166260	chr12:50341932-50341933	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs569300803	chr12:50341939-50341940	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs538262901	chr12:50341986-50341987	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs571552763	chr12:50341990-50341991	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs189632581	chr12:50341993-50341994	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs200083569	chr12:50341994-50341995	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs574991613	chr12:50342000-50342001	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs76609774	chr12:50342034-50342035	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs554385047	chr12:50342035-50342036	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs114735013	chr12:50342042-50342043	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs546506396	chr12:50342043-50342044	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs373055595	chr12:50342059-50342060	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs562866411	chr12:50342096-50342097	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs576292523	chr12:50342135-50342136	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs541432859	chr12:50342140-50342141	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs118139024	chr12:50342146-50342147	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs370117386	chr12:50342152-50342153	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs144951273	chr12:50342180-50342181	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs547166135	chr12:50342212-50342213	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs565787344	chr12:50342220-50342221	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs115379896	chr12:50342234-50342235	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs377377079	chr12:50342245-50342246	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs532960573	chr12:50342247-50342248	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs536295824	chr12:50342249-50342250	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs554365284	chr12:50342272-50342273	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs549918357	chr12:50342275-50342276	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs370371864	chr12:50342316-50342317	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs7959379	chr12:50342373-50342374	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570525438	chr12:50342386-50342387	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs535701816	chr12:50342414-50342415	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs7959190	chr12:50342473-50342474	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs180775011	chr12:50342482-50342483	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
Hirschsprung''s Disease	21712996	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50338800-50341800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr12:50338800-50344600	Weak transcription	Spleen	Spleen
3	chr12:50339400-50341800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:50339400-50341800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:50339400-50353600	Weak transcription	Right Atrium	heart
6	chr12:50339600-50344200	Weak transcription	Pancreas	Pancrea
7	chr12:50339800-50342200	Enhancers	Hela-S3	cervix
8	chr12:50340000-50342000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:50340000-50342600	Weak transcription	K562	blood
10	chr12:50340200-50341800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:50340200-50346000	Weak transcription	Lung	lung
12	chr12:50340400-50341600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:50340600-50341600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:50340800-50343600	Weak transcription	Fetal Kidney	kidney
15	chr12:50340800-50344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:50341400-50341600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:50341400-50341600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:50341400-50341800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:50341400-50342000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr12:50341600-50341800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:50341600-50341800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:50341800-50342400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:50341800-50343200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:50341800-50343800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:50342000-50342200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr12:50342000-50343800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:50342200-50342600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr12:50342200-50343400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:50342200-50345400	Weak transcription	Hela-S3	cervix
30	chr12:50342400-50342600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:50342400-50346000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:50342600-50343200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr12:50342600-50343800	Enhancers	K562	blood
34	chr12:50343200-50343400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:50343200-50343600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:50343200-50345800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr12:50343400-50343600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:50343400-50343600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr12:50343600-50344000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:50343600-50344000	Enhancers	Fetal Kidney	kidney
41	chr12:50343800-50344000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:50343800-50344400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:50344000-50344200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr12:50344000-50344200	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr12:50344000-50345000	Weak transcription	Fetal Kidney	kidney
46	chr12:50344000-50347800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:50344200-50344800	Enhancers	Stomach Mucosa	stomach
48	chr12:50344200-50345000	Enhancers	Pancreas	Pancrea
49	chr12:50344200-50345400	Enhancers	Adipose Nuclei	Adipose
50	chr12:50344600-50344800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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