Variant report

Variant	esv2751108
Chromosome Location	chr12:63445933-63503952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:63497272-63497631	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:63476870-63477179	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:63462602-63463008	K562	blood:	n/a	chr12:63462745-63462761
4	BACH1	chr12:63460694-63460961	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr12:63497377-63497528	HepG2	liver:	n/a	n/a
6	BRCA1	chr12:63462285-63462959	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr12:63491637-63491772	K562	blood:	n/a	n/a
8	CEBPB	chr12:63500753-63501013	K562	blood:	n/a	n/a
9	CEBPB	chr12:63457907-63458254	IMR90	lung:	n/a	chr12:63458082-63458091 chr12:63458080-63458091
10	CEBPB	chr12:63457967-63458193	A549	lung:	n/a	chr12:63458082-63458091 chr12:63458080-63458091
11	CEBPB	chr12:63489180-63489553	HepG2	liver:	n/a	chr12:63489358-63489369
12	CEBPB	chr12:63489230-63489450	HepG2	liver:	n/a	chr12:63489358-63489369
13	CEBPB	chr12:63498242-63498546	A549	lung:	n/a	chr12:63498390-63498401
14	CEBPB	chr12:63489246-63489392	A549	lung:	n/a	chr12:63489358-63489369
15	CEBPB	chr12:63498222-63498566	HepG2	liver:	n/a	chr12:63498390-63498401
16	CEBPB	chr12:63458010-63458150	K562	blood:	n/a	chr12:63458082-63458091 chr12:63458080-63458091
17	CEBPB	chr12:63489181-63489556	HepG2	liver:	n/a	chr12:63489358-63489369
18	CEBPB	chr12:63489316-63489449	H1-hESC	embryonic stem cell:	n/a	chr12:63489358-63489369
19	CEBPB	chr12:63489197-63489397	K562	blood:	n/a	chr12:63489358-63489369
20	CEBPB	chr12:63498226-63498565	IMR90	lung:	n/a	chr12:63498390-63498401
21	CEBPB	chr12:63498228-63498531	K562	blood:	n/a	chr12:63498390-63498401
22	CEBPB	chr12:63489174-63489490	HepG2	liver:	n/a	chr12:63489358-63489369
23	CTCF	chr12:63462740-63462890	MCF-7	breast:	n/a	chr12:63462819-63462837 chr12:63462814-63462835
24	CTCF	chr12:63462780-63462930	MCF-7	breast:	n/a	chr12:63462819-63462837 chr12:63462814-63462835
25	CTCF	chr12:63497383-63497611	LNCaP	prostate:	n/a	chr12:63497506-63497519 chr12:63497503-63497521
26	CTCF	chr12:63497400-63497550	HBMEC	blood vessel:	n/a	chr12:63497506-63497519 chr12:63497503-63497521
27	CTCF	chr12:63462780-63462930	NHLF	lung:	n/a	chr12:63462819-63462837 chr12:63462814-63462835
28	CTCF	chr12:63462738-63462938	HepG2	liver:	n/a	chr12:63462819-63462837 chr12:63462814-63462835
29	CTCF	chr12:63462760-63462910	GM12873	blood:	n/a	chr12:63462819-63462837 chr12:63462814-63462835
30	CTCF	chr12:63497440-63497590	HPAF	blood vessel:	n/a	chr12:63497506-63497519 chr12:63497503-63497521
31	CTCF	chr12:63462780-63462930	GM12867	blood:	n/a	chr12:63462819-63462837 chr12:63462814-63462835
32	CTCF	chr12:63492780-63492930	GM12875	blood:	n/a	chr12:63492835-63492848 chr12:63492830-63492848 chr12:63492837-63492845
33	CTCF	chr12:63497440-63497590	GM12874	blood:	n/a	chr12:63497506-63497519 chr12:63497503-63497521
34	CTCF	chr12:63492700-63492850	GM12864	blood:	n/a	chr12:63492835-63492848 chr12:63492830-63492848 chr12:63492837-63492845
35	CTCF	chr12:63462778-63462962	Gliobla	brain:	n/a	chr12:63462819-63462837 chr12:63462814-63462835
36	CTCF	chr12:63492744-63492940	HepG2	liver:	n/a	chr12:63492835-63492848 chr12:63492830-63492848 chr12:63492837-63492845
37	CTCF	chr12:63462720-63462870	Hela-S3	cervix:	n/a	chr12:63462819-63462837 chr12:63462814-63462835
38	CTCF	chr12:63497312-63497611	HepG2	liver:	n/a	chr12:63497506-63497519 chr12:63497503-63497521
39	CTCF	chr12:63462760-63462910	HCT-116	colon:	n/a	chr12:63462819-63462837 chr12:63462814-63462835
40	CTCF	chr12:63492778-63492869	Fibrobl	skin:	n/a	chr12:63492835-63492848 chr12:63492830-63492848 chr12:63492837-63492845
41	CTCF	chr12:63462655-63462974	HUVEC	blood vessel:	n/a	chr12:63462819-63462837 chr12:63462814-63462835
42	CTCF	chr12:63497391-63497608	GM10248	blood:	n/a	chr12:63497506-63497519 chr12:63497503-63497521
43	CTCF	chr12:63462780-63462930	A549	lung:	n/a	chr12:63462819-63462837 chr12:63462814-63462835
44	CTCF	chr12:63497320-63497470	HAc	cerebellar:	n/a	n/a
45	CTCF	chr12:63497480-63497630	GM12875	blood:	n/a	chr12:63497506-63497519 chr12:63497503-63497521
46	CTCF	chr12:63497400-63497550	BE2_C	brain:	n/a	chr12:63497506-63497519 chr12:63497503-63497521
47	CTCF	chr12:63496720-63496870	HRE	kidney:	n/a	n/a
48	CTCF	chr12:63460620-63460770	GM12865	blood:	n/a	n/a
49	CTCF	chr12:63497400-63497550	HCM	heart:	n/a	chr12:63497506-63497519 chr12:63497503-63497521
50	CTCF	chr12:63497420-63497570	HEEpiC	esophagus:	n/a	chr12:63497506-63497519 chr12:63497503-63497521

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:63479872-63479922	NHBE	bronchial:	n/a
2	chr12:63479872-63479922	HEK293	kidney:	embryo
3	chr12:63479872-63479922	IMR90	lung:	fetal
4	chr12:63479872-63479922	NT2-D1	testis:	n/a
5	chr12:63479872-63479922	ovcar-3	ovarian:	n/a
6	chr12:63479872-63479922	Hepatocyte	liver:	n/a
7	chr12:63479872-63479922	RPTEC	kidney:	n/a
8	chr12:63479872-63479922	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:63479872-63479922	HCF	heart:	n/a
10	chr12:63479872-63479922	H1-hESC	embryonic stem cell:	embryo
11	chr12:63479872-63479922	PrEC	prostate:	n/a
12	chr12:63479872-63479922	HUVEC	blood vessel:	n/a
13	chr12:63479872-63479922	GM19239	blood:	n/a
14	chr12:63479872-63479922	GM06990	blood:	n/a
15	chr12:63479872-63479922	ECC-1	luminal epithelium:	n/a
16	chr12:63479872-63479922	HNPCEpiC	eye:	n/a
17	chr12:63479872-63479922	T-47D	breast:	n/a
18	chr12:63479872-63479922	CMK	blood:	n/a
19	chr12:63479872-63479922	ProgFib	skin:	n/a
20	chr12:63479872-63479922	SKMC	muscle:	n/a
21	chr12:63479872-63479922	A549	lung:	n/a
22	chr12:63479872-63479922	GM12891	blood:	n/a
23	chr12:63479872-63479922	HRCEpiC	kidney:	n/a
24	chr12:63479872-63479922	U87	brain:	n/a
25	chr12:63479872-63479922	NB4	blood:	n/a
26	chr12:63479872-63479922	SK-N-SH	brain:	n/a
27	chr12:63479872-63479922	GM12878	blood:	n/a
28	chr12:63479872-63479922	HAEpiC	amniotic membrane:	n/a
29	chr12:63479872-63479922	AG10803	skin:	n/a
30	chr12:63479872-63479922	LNCaP	prostate:	n/a
31	chr12:63479872-63479922	HepG2	liver:	n/a
32	chr12:63479872-63479922	BJ	skin:	n/a
33	chr12:63479872-63479922	HL-60	blood:	n/a
34	chr12:63479872-63479922	HCT-116	colon:	n/a
35	chr12:63479872-63479922	NHDF-neo	bronchial:	n/a
36	chr12:63479872-63479922	SK-N-SH_RA	brain:	n/a
37	chr12:63479872-63479922	Caco-2	colon:	n/a
38	chr12:63479872-63479922	HCM	heart:	n/a
39	chr12:63479872-63479922	HRE	kidney:	n/a
40	chr12:63479872-63479922	HMEC	breast:	n/a
41	chr12:63479872-63479922	BE2_C	brain:	n/a
42	chr12:63479872-63479922	HEEpiC	esophagus:	n/a
43	chr12:63479872-63479922	AG04450	lung:	fetal
44	chr12:63479872-63479922	PFSK-1	brain:	n/a
45	chr12:63479872-63479922	SAEC	small airway:	n/a
46	chr12:63479872-63479922	PANC-1	pancreas:	n/a
47	chr12:63479872-63479922	AoSMC	blood vessel:	n/a
48	chr12:63479872-63479922	AG04449	skin:	fetal
49	chr12:63479872-63479922	SK-N-MC	brain:	n/a
50	chr12:63479872-63479922	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:63479650..63481283-chr12:63482736..63485461,2	K562	blood:
2	chr12:63479650..63481283-chr12:63482736..63485461,2	K562	blood:
3	chr12:63456946..63458718-chr12:63463514..63466511,2	K562	blood:
4	chr12:63441982..63444906-chr12:63445310..63449145,3	MCF-7	breast:
5	chr12:63497039..63497977-chr12:64195476..64196144,2	K562	blood:
6	chr12:63491029..63492639-chr12:64172273..64174995,2	MCF-7	breast:
7	chr12:63461645..63464045-chr12:63491435..63493739,2	MCF-7	breast:
8	chr12:63496969..63497998-chr12:63670271..63671167,8	MCF-7	breast:
9	chr12:63503782..63505766-chr12:63506813..63509120,2	K562	blood:
10	chr12:63492473..63494372-chr12:63496119..63498429,2	K562	blood:
11	chr12:63497332..63498958-chr12:63670308..63671121,8	MCF-7	breast:
12	chr12:63453202..63455984-chr12:63460677..63462283,2	MCF-7	breast:
13	chr12:63456589..63458446-chr12:63465011..63467906,2	K562	blood:
14	chr12:63460043..63460554-chr12:63480000..63480756,2	MCF-7	breast:
15	chr12:63456946..63458718-chr12:63463514..63466511,2	K562	blood:
16	chr12:63479864..63482545-chr12:63488931..63490765,2	MCF-7	breast:
17	chr12:63456589..63458446-chr12:63465011..63467906,2	K562	blood:
18	chr12:63492473..63494372-chr12:63496119..63498429,2	K562	blood:
19	chr12:63440777..63441364-chr12:63480086..63480637,2	MCF-7	breast:
20	chr12:63327544..63329534-chr12:63461155..63462846,2	MCF-7	breast:
21	chr12:63466722..63469184-chr12:63470700..63472611,2	K562	blood:
22	chr12:63491617..63494128-chr12:64615499..64617059,2	K562	blood:
23	chr12:63196813..63197745-chr12:63462451..63462996,2	MCF-7	breast:
24	chr12:63327612..63330276-chr12:63491090..63493738,2	MCF-7	breast:
25	chr12:63327630..63329589-chr12:63447421..63451204,3	MCF-7	breast:
26	chr12:63468625..63471067-chr12:63476641..63478768,2	MCF-7	breast:
27	chr12:63453202..63455984-chr12:63460677..63462283,2	MCF-7	breast:
28	chr12:63484569..63486639-chr12:64614558..64616326,2	MCF-7	breast:
29	chr12:63468625..63471067-chr12:63476641..63478768,2	MCF-7	breast:
30	chr12:63497053..63498247-chr12:63670255..63671252,4	K562	blood:
31	chr12:63497370..63497928-chr12:64195474..64196377,2	MCF-7	breast:
32	chr12:63466722..63469184-chr12:63470700..63472611,2	K562	blood:
33	chr12:63479864..63482545-chr12:63488931..63490765,2	MCF-7	breast:
34	chr12:63327252..63328936-chr12:63486552..63489469,2	MCF-7	breast:
35	chr12:63192959..63193548-chr12:63462332..63463253,2	MCF-7	breast:
36	chr12:62995704..62998486-chr12:63464729..63466600,2	MCF-7	breast:
37	chr12:63496453..63499352-chr12:64173717..64175638,2	MCF-7	breast:
38	chr12:63461645..63464045-chr12:63491435..63493739,2	MCF-7	breast:
39	chr12:63460043..63460554-chr12:63480000..63480756,2	MCF-7	breast:
40	chr12:63480027..63482995-chr12:64172755..64175341,2	MCF-7	breast:
41	chr12:63206567..63207268-chr12:63462389..63463384,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AVPR1A-3	chr12:63449055-63449545	NONHSAT029105

Variant related genes	Relation type
RSL24D1P5	TF binding region
RSL24D1P5	CpG island
ENSG00000118600	chromatin interactions
ENSG00000252660	chromatin interactions
ENSG00000111110	chromatin interactions
ENSG00000199179	chromatin interactions
ENSG00000257354	chromatin interactions
ENSG00000243024	chromatin interactions
ENSG00000221949	chromatin interactions
ENSG00000174206	chromatin interactions

Extended variants
information (count: 1824 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1824 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142073441	chr12:63447469-63447470	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs17098816	chr12:63447525-63447526	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs10877947	chr12:63447557-63447558	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs558441539	chr12:63447569-63447570	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112927314	chr12:63447583-63447584	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs540219740	chr12:63447594-63447595	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553844458	chr12:63447748-63447749	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs187441916	chr12:63447830-63447831	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570001766	chr12:63447836-63447837	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs151134376	chr12:63447870-63447871	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562506534	chr12:63447965-63447966	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10506460	chr12:63448020-63448021	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
13	rs544948473	chr12:63448038-63448039	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565162549	chr12:63448039-63448040	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549387781	chr12:63448072-63448073	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs371971954	chr12:63448073-63448074	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566571155	chr12:63448080-63448081	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs529301289	chr12:63448081-63448082	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs549466321	chr12:63448086-63448087	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569316443	chr12:63448093-63448094	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs538454014	chr12:63448142-63448143	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566409675	chr12:63448145-63448146	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544866908	chr12:63448185-63448186	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs543482720	chr12:63448186-63448187	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375957889	chr12:63448198-63448199	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs558103933	chr12:63448200-63448201	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs140207236	chr12:63448206-63448207	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs192725263	chr12:63448289-63448290	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs375002916	chr12:63448366-63448367	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs553756439	chr12:63448373-63448374	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs573691083	chr12:63448395-63448396	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs377085084	chr12:63448404-63448405	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs113663628	chr12:63448434-63448435	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368424397	chr12:63448448-63448449	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs185419372	chr12:63448524-63448525	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs369058474	chr12:63448546-63448547	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs115591373	chr12:63448592-63448593	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs545170480	chr12:63448641-63448642	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564869112	chr12:63448660-63448661	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs10877948	chr12:63448684-63448685	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144942200	chr12:63448696-63448697	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141043945	chr12:63448713-63448714	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs144753225	chr12:63448722-63448723	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs190716406	chr12:63448728-63448729	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs372544841	chr12:63448838-63448839	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs138769846	chr12:63448842-63448843	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549179756	chr12:63448852-63448853	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576905395	chr12:63448855-63448856	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs531754154	chr12:63448858-63448859	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs551949091	chr12:63448861-63448862	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	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
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63454600-63456000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:63454800-63456600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:63455000-63455800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:63455200-63456000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:63455200-63456000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:63455600-63456000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:63455600-63456800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:63455800-63460600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:63456000-63462400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:63456600-63462600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:63457400-63458600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:63457400-63458800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:63457400-63459200	Enhancers	Placenta	Placenta
14	chr12:63457800-63458000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:63457800-63458400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:63457800-63458400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:63457800-63458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:63458000-63458400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:63458000-63458400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:63458000-63458400	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:63458000-63458400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:63458000-63458600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:63458000-63458600	Enhancers	Osteobl	bone
24	chr12:63458200-63458400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:63458200-63458600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:63458400-63458800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:63458400-63460000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:63458400-63462800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:63458400-63469200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:63458600-63462400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:63458800-63460600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:63458800-63462400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:63460000-63460800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:63460000-63461200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr12:63460400-63460800	Enhancers	Fetal Kidney	kidney
36	chr12:63460600-63460800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:63460600-63460800	Flanking Active TSS	HepG2	liver
38	chr12:63460600-63461000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:63460600-63461000	Enhancers	Fetal Intestine Small	intestine
40	chr12:63460600-63461200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:63460600-63461200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:63460800-63461000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:63460800-63461000	Enhancers	HepG2	liver
44	chr12:63461000-63465200	Weak transcription	Fetal Intestine Small	intestine
45	chr12:63461200-63462200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:63461200-63462800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:63461800-63462400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:63462200-63462400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:63462400-63462800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr12:63462400-63463000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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