Variant report

Variant	nsv1005149
Chromosome Location	chr2:127841930-127880106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:782)
CpG islands
(count:1099)
Chromatin interactive
region (count:41)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:782 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:127844404-127844947	GM12878	blood:	n/a	n/a
2	ATF2	chr2:127844429-127844950	GM12878	blood:	n/a	n/a
3	BACH1	chr2:127865004-127865041	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:127863286-127863726	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:127846567-127846639	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:127864449-127864641	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL11A	chr2:127844549-127844858	GM12878	blood:	n/a	n/a
8	BCLAF1	chr2:127844359-127844791	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:127844529-127844581	K562	blood:	n/a	n/a
10	BHLHE40	chr2:127844445-127844936	GM12878	blood:	n/a	n/a
11	BHLHE40	chr2:127842880-127843222	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:127841796-127841981	K562	blood:	n/a	n/a
13	BHLHE40	chr2:127864479-127864849	GM12878	blood:	n/a	n/a
14	BRCA1	chr2:127863282-127863907	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr2:127864752-127864982	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr2:127858317-127858736	A549	lung:	n/a	n/a
17	CEBPB	chr2:127858384-127858643	IMR90	lung:	n/a	n/a
18	CEBPB	chr2:127869237-127869559	HepG2	liver:	n/a	chr2:127869401-127869412
19	CEBPB	chr2:127841635-127842081	A549	lung:	n/a	n/a
20	CEBPB	chr2:127864656-127865236	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr2:127841327-127842550	IMR90	lung:	n/a	n/a
22	CEBPB	chr2:127864822-127865171	IMR90	lung:	n/a	n/a
23	CEBPB	chr2:127864763-127865190	ECC-1	luminal epithelium:	n/a	n/a
24	CEBPB	chr2:127869310-127869564	IMR90	lung:	n/a	chr2:127869401-127869412
25	CEBPB	chr2:127841734-127841947	K562	blood:	n/a	n/a
26	CEBPB	chr2:127863265-127863623	IMR90	lung:	n/a	n/a
27	CEBPB	chr2:127858347-127858669	A549	lung:	n/a	n/a
28	CEBPB	chr2:127868641-127869097	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr2:127858271-127858748	A549	lung:	n/a	n/a
30	CEBPB	chr2:127864935-127865104	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr2:127864962-127865092	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:127863259-127864226	Hela-S3	cervix:	n/a	n/a
33	CHD1	chr2:127864105-127864145	GM12878	blood:	n/a	n/a
34	CHD1	chr2:127862467-127865680	IMR90	lung:	n/a	n/a
35	CHD2	chr2:127864452-127864860	GM12878	blood:	n/a	n/a
36	CHD2	chr2:127864080-127864081	HepG2	liver:	n/a	n/a
37	CHD2	chr2:127842926-127843355	GM12878	blood:	n/a	n/a
38	CHD2	chr2:127844803-127844881	K562	blood:	n/a	n/a
39	CHD2	chr2:127862952-127863934	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr2:127864851-127865683	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr2:127843573-127843599	GM12878	blood:	n/a	n/a
42	CHD2	chr2:127864139-127865073	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr2:127844659-127844994	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr2:127843856-127844003	GM12878	blood:	n/a	chr2:127843856-127843866
45	CHD2	chr2:127844460-127845047	GM12878	blood:	n/a	n/a
46	CREB1	chr2:127844382-127844979	GM12878	blood:	n/a	n/a
47	CREB1	chr2:127864472-127865142	A549	lung:	n/a	n/a
48	CREB1	chr2:127854700-127855186	K562	blood:	n/a	n/a
49	CREB1	chr2:127844339-127845008	GM12878	blood:	n/a	n/a
50	CTBP2	chr2:127863174-127865449	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:127864926-127864976	NT2-D1	testis:	n/a
2	chr2:127864926-127864976	NT2-D1	testis:	n/a
3	chr2:127861092-127861142	Caco-2	colon:	n/a
4	chr2:127852450-127852500	SAEC	small airway:	n/a
5	chr2:127863656-127863706	PANC-1	pancreas:	n/a
6	chr2:127862614-127862664	HEK293	kidney:	embryo
7	chr2:127865248-127865298	GM06990	blood:	n/a
8	chr2:127864762-127864812	SK-N-SH_RA	brain:	n/a
9	chr2:127864941-127864991	BE2_C	brain:	n/a
10	chr2:127862614-127862664	HCF	heart:	n/a
11	chr2:127861092-127861142	GM12892	blood:	n/a
12	chr2:127864359-127864409	AG09309	skin:	n/a
13	chr2:127864964-127865014	AG10803	skin:	n/a
14	chr2:127864778-127864828	SK-N-SH	brain:	n/a
15	chr2:127864778-127864828	SK-N-SH_RA	brain:	n/a
16	chr2:127861092-127861142	HIPEpiC	eye:	n/a
17	chr2:127865431-127865481	HIPEpiC	eye:	n/a
18	chr2:127864778-127864828	SKMC	muscle:	n/a
19	chr2:127865197-127865247	Hela-S3	cervix:	n/a
20	chr2:127864964-127865014	SAEC	small airway:	n/a
21	chr2:127864941-127864991	AG09309	skin:	n/a
22	chr2:127864359-127864409	IMR90	lung:	fetal
23	chr2:127841945-127841995	CMK	blood:	n/a
24	chr2:127868745-127868795	Caco-2	colon:	n/a
25	chr2:127865248-127865298	NH-A	brain:	n/a
26	chr2:127868745-127868795	IMR90	lung:	fetal
27	chr2:127863656-127863706	LNCaP	prostate:	n/a
28	chr2:127864964-127865014	AG04450	lung:	fetal
29	chr2:127868745-127868795	HRPEpiC	eye:	n/a
30	chr2:127864359-127864409	NB4	blood:	n/a
31	chr2:127865379-127865429	ProgFib	skin:	n/a
32	chr2:127864964-127865014	PANC-1	pancreas:	n/a
33	chr2:127852450-127852500	HEEpiC	esophagus:	n/a
34	chr2:127861092-127861142	AG04450	lung:	fetal
35	chr2:127864964-127865014	CMK	blood:	n/a
36	chr2:127852450-127852500	HRPEpiC	eye:	n/a
37	chr2:127864778-127864828	HCF	heart:	n/a
38	chr2:127865379-127865429	U87	brain:	n/a
39	chr2:127864926-127864976	GM12891	blood:	n/a
40	chr2:127864941-127864991	HCT-116	colon:	n/a
41	chr2:127863656-127863706	HPAEpiC	pulmonary alveolar:	n/a
42	chr2:127852450-127852500	HRCEpiC	kidney:	n/a
43	chr2:127865248-127865298	HCF	heart:	n/a
44	chr2:127865248-127865298	HRPEpiC	eye:	n/a
45	chr2:127864762-127864812	BE2_C	brain:	n/a
46	chr2:127864762-127864812	RPTEC	kidney:	n/a
47	chr2:127864359-127864409	GM12892	blood:	n/a
48	chr2:127864778-127864828	AG10803	skin:	n/a
49	chr2:127865248-127865298	AG04450	lung:	fetal
50	chr2:127864778-127864828	T-47D	breast:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:127846603..127849237-chr2:127850068..127853450,3	K562	blood:
2	chr2:127840959..127842662-chr2:127845324..127846999,2	K562	blood:
3	chr2:127825223..127826267-chr2:127857805..127858865,3	MCF-7	breast:
4	chr2:127822004..127823991-chr2:127859645..127861835,2	MCF-7	breast:
5	chr2:127865657..127869658-chr2:127871080..127873352,3	K562	blood:
6	chr2:127868348..127869960-chr2:127871605..127873219,2	MCF-7	breast:
7	chr2:127853337..127855770-chr2:127871735..127873345,2	K562	blood:
8	chr2:127844458..127846446-chr2:127850246..127851813,2	K562	blood:
9	chr2:127843180..127845570-chr2:127848864..127852714,3	MCF-7	breast:
10	chr2:127839430..127842816-chr2:127848432..127852029,4	MCF-7	breast:
11	chr2:127839430..127842816-chr2:127848432..127852029,4	MCF-7	breast:
12	chr2:127841990..127844933-chr2:127856467..127858298,2	K562	blood:
13	chr2:127834991..127836623-chr2:127840456..127842151,2	MCF-7	breast:
14	chr2:127840601..127843824-chr2:127844844..127848160,4	K562	blood:
15	chr2:127825324..127826896-chr2:127856890..127859750,2	MCF-7	breast:
16	chr2:127846711..127850055-chr2:127853164..127855548,3	MCF-7	breast:
17	chr2:127852372..127854342-chr2:127858358..127859956,2	MCF-7	breast:
18	chr2:127842780..127845072-chr2:127863578..127865079,2	K562	blood:
19	chr2:127853337..127855770-chr2:127871735..127873345,2	K562	blood:
20	chr2:127844458..127846446-chr2:127850246..127851813,2	K562	blood:
21	chr2:127865657..127869658-chr2:127871080..127873352,3	K562	blood:
22	chr2:127843180..127845570-chr2:127848864..127852714,3	MCF-7	breast:
23	chr2:127842254..127844330-chr2:127859021..127861716,3	MCF-7	breast:
24	chr2:127842254..127844330-chr2:127859021..127861716,3	MCF-7	breast:
25	chr2:127854702..127856656-chr2:127856950..127858701,2	MCF-7	breast:
26	chr2:127846603..127849237-chr2:127850068..127853450,3	K562	blood:
27	chr2:127846711..127850055-chr2:127853164..127855548,3	MCF-7	breast:
28	chr2:127852372..127854342-chr2:127858358..127859956,2	MCF-7	breast:
29	chr2:127837345..127839578-chr2:127840445..127843454,3	MCF-7	breast:
30	chr2:127841990..127844933-chr2:127856467..127858298,2	K562	blood:
31	chr2:127854702..127856656-chr2:127856950..127858701,2	MCF-7	breast:
32	chr2:127857696..127862567-chr2:127862895..127866178,8	MCF-7	breast:
33	chr2:127840601..127843824-chr2:127844844..127848160,4	K562	blood:
34	chr2:127853140..127855394-chr2:127860485..127862176,2	MCF-7	breast:
35	chr2:127840959..127842662-chr2:127845324..127846999,2	K562	blood:
36	chr2:127868348..127869960-chr2:127871605..127873219,2	MCF-7	breast:
37	chr2:127834701..127837421-chr2:127840734..127842424,2	MCF-7	breast:
38	chr2:127837291..127839948-chr2:127841422..127844629,3	K562	blood:
39	chr2:127853140..127855394-chr2:127860485..127862176,2	MCF-7	breast:
40	chr2:127821604..127823983-chr2:127869382..127870898,2	K562	blood:
41	chr2:127823166..127825424-chr2:127856557..127859034,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP27C1-1	chr2:127861773-127862104	expReg_chr2_9105_-
2	lnc-AC114783.1.1-4	chr2:127871993-127874626	NONHSAT074143
3	lnc-AC114783.1.1-4	chr2:127879861-127879890	l_1944_chr2:127862717-127879890_lung
4	lnc-AC114783.1.1-4	chr2:127862718-127863044	l_1944_chr2:127862717-127879890_lung
5	lnc-AC114783.1.1-4	chr2:127863157-127863231	l_1944_chr2:127862717-127879890_lung
6	lnc-AC114783.1.1-4	chr2:127863176-127863231	NONHSAT074143

No data

Variant related genes	Relation type
BIN1	TF binding region
BIN1	CpG island
ENSG00000136717	chromatin interactions

Extended variants
information (count: 1515 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1515 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17014923	chr2:127841930-127841931	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553455230	chr2:127841932-127841933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs563574888	chr2:127841935-127841936	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs571931007	chr2:127841942-127841943	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs58402148	chr2:127841945-127841946	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs530560826	chr2:127841946-127841947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs532362048	chr2:127842022-127842023	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs546208189	chr2:127842023-127842024	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs550295658	chr2:127842090-127842091	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs563024546	chr2:127842157-127842158	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs17014926	chr2:127842161-127842162	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11693422	chr2:127842162-127842163	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs144083006	chr2:127842165-127842166	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs34438272	chr2:127842205-127842206	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs139910938	chr2:127842207-127842208	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs547508373	chr2:127842229-127842230	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs143505374	chr2:127842254-127842255	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs539416458	chr2:127842255-127842256	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs75023436	chr2:127842267-127842268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs536313498	chr2:127842293-127842294	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs116144099	chr2:127842304-127842305	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs188790400	chr2:127842346-127842347	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs11691237	chr2:127842383-127842384	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs571869033	chr2:127842395-127842396	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs540866979	chr2:127842405-127842406	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs553828662	chr2:127842437-127842438	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs576958022	chr2:127842461-127842462	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs545998749	chr2:127842466-127842467	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs77262456	chr2:127842477-127842478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs531614625	chr2:127842518-127842519	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs542470068	chr2:127842519-127842520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs562412504	chr2:127842523-127842524	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs139103183	chr2:127842549-127842550	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs74915682	chr2:127842557-127842558	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs564152038	chr2:127842586-127842587	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs11694743	chr2:127842607-127842608	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs549630949	chr2:127842613-127842614	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs531028672	chr2:127842614-127842615	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs534884581	chr2:127842616-127842617	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs181594860	chr2:127842618-127842619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs549250007	chr2:127842619-127842620	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs186415110	chr2:127842639-127842640	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs552808250	chr2:127842651-127842652	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs557496271	chr2:127842696-127842697	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs577439038	chr2:127842732-127842733	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs13430214	chr2:127842751-127842752	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116457083	chr2:127842790-127842791	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs537498527	chr2:127842818-127842819	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576377978	chr2:127842824-127842825	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs62158723	chr2:127842874-127842875	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:1848 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127815200-127850800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:127818400-127844400	Genic enhancers	Fetal Muscle Leg	muscle
3	chr2:127831600-127842600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:127834400-127849000	Bivalent Enhancer	Placenta	Placenta
5	chr2:127834600-127848400	Enhancers	Brain Angular Gyrus	brain
6	chr2:127835000-127843800	Enhancers	Stomach Mucosa	stomach
7	chr2:127835000-127844800	Genic enhancers	Fetal Intestine Small	intestine
8	chr2:127835200-127846000	Enhancers	Fetal Intestine Large	intestine
9	chr2:127835400-127843600	Enhancers	Gastric	stomach
10	chr2:127835400-127853200	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:127836600-127846000	Enhancers	Lung	lung
12	chr2:127837400-127842000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:127837600-127844400	Weak transcription	Ovary	ovary
14	chr2:127838000-127842400	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr2:127838000-127842600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:127838200-127843200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr2:127839000-127845600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:127839400-127844400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:127839400-127844600	Enhancers	Primary B cells from cord blood	blood
20	chr2:127839400-127852800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:127839600-127842800	Enhancers	Duodenum Mucosa	Duodenum
22	chr2:127839600-127843200	Enhancers	Liver	Liver
23	chr2:127839600-127843800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:127839600-127846000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:127839600-127847800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:127839800-127844600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:127840000-127842000	Enhancers	Primary T cells from cord blood	blood
28	chr2:127840000-127842800	Weak transcription	Right Ventricle	heart
29	chr2:127840000-127842800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:127840000-127843600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:127840000-127843800	Enhancers	Colon Smooth Muscle	Colon
32	chr2:127840000-127844000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr2:127840000-127844000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:127840000-127844400	Enhancers	Primary B cells from peripheral blood	blood
35	chr2:127840000-127844800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:127840000-127844800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:127840000-127845600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:127840000-127848200	Enhancers	Spleen	Spleen
39	chr2:127840000-127849400	Enhancers	Fetal Thymus	thymus
40	chr2:127840200-127842000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr2:127840200-127842800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:127840200-127842800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:127840200-127844200	Genic enhancers	Fetal Stomach	stomach
44	chr2:127840200-127844400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:127840200-127846000	Enhancers	NHDF-Ad	bronchial
46	chr2:127840200-127846600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:127840400-127842600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:127840400-127842600	Weak transcription	Pancreas	Pancrea
49	chr2:127840400-127842800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:127840400-127842800	Weak transcription	Esophagus	oesophagus

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