Variant report

Variant	esv3343184
Chromosome Location	chr1:120611429-120639227
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	BATF	chr1:120611354-120611730	GM12878	blood:	n/a	n/a
2	BATF	chr1:120623707-120624030	GM12878	blood:	n/a	n/a
3	BATF	chr1:120611985-120612860	GM12878	blood:	n/a	chr1:120612243-120612251
4	BATF	chr1:120630584-120630904	GM12878	blood:	n/a	n/a
5	BCL11A	chr1:120611434-120612789	GM12878	blood:	n/a	chr1:120611922-120611930 chr1:120611748-120611757 chr1:120611722-120611735 chr1:120612331-120612344 chr1:120612200-120612213 chr1:120612366-120612375 chr1:120612211-120612224 chr1:120611833-120611846 chr1:120612327-120612340 chr1:120612345-120612358
6	BCL11A	chr1:120611089-120611634	GM12878	blood:	n/a	chr1:120611132-120611145
7	BCL11A	chr1:120612554-120612750	GM12878	blood:	n/a	n/a
8	BCL11A	chr1:120612793-120613021	GM12878	blood:	n/a	n/a
9	BCL11A	chr1:120612075-120612492	GM12878	blood:	n/a	chr1:120612331-120612344 chr1:120612200-120612213 chr1:120612366-120612375 chr1:120612211-120612224 chr1:120612327-120612340 chr1:120612345-120612358
10	BHLHE40	chr1:120612253-120612353	GM12878	blood:	n/a	n/a
11	BHLHE40	chr1:120613372-120613374	K562	blood:	n/a	n/a
12	BHLHE40	chr1:120612061-120612430	HepG2	liver:	n/a	chr1:120612210-120612226
13	BHLHE40	chr1:120611076-120611451	GM12878	blood:	n/a	n/a
14	CBX3	chr1:120612017-120612854	K562	blood:	n/a	n/a
15	CEBPB	chr1:120630691-120630910	IMR90	lung:	n/a	n/a
16	CEBPB	chr1:120612085-120612439	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr1:120619578-120619734	H1-hESC	embryonic stem cell:	n/a	chr1:120619660-120619671
18	CEBPB	chr1:120619545-120619730	Hela-S3	cervix:	n/a	chr1:120619660-120619671
19	CEBPB	chr1:120633478-120633798	IMR90	lung:	n/a	chr1:120633654-120633671
20	CEBPB	chr1:120612210-120612508	GM12878	blood:	n/a	n/a
21	CEBPB	chr1:120612008-120613179	GM12878	blood:	n/a	n/a
22	CEBPB	chr1:120619486-120619844	IMR90	lung:	n/a	chr1:120619660-120619671
23	CEBPB	chr1:120617619-120617856	IMR90	lung:	n/a	chr1:120617743-120617754
24	CEBPB	chr1:120619491-120619746	HepG2	liver:	n/a	chr1:120619660-120619671
25	CEBPB	chr1:120619540-120619850	K562	blood:	n/a	chr1:120619660-120619671
26	CEBPD	chr1:120612146-120612492	K562	blood:	n/a	n/a
27	CHD1	chr1:120612161-120612168	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr1:120611498-120612373	IMR90	lung:	n/a	chr1:120612182-120612192
29	CHD2	chr1:120612091-120612461	Hela-S3	cervix:	n/a	chr1:120612182-120612192
30	CHD2	chr1:120611059-120611442	Hela-S3	cervix:	n/a	chr1:120611364-120611374
31	CHD2	chr1:120611791-120612456	GM12878	blood:	n/a	chr1:120612182-120612192
32	CHD2	chr1:120612143-120612448	K562	blood:	n/a	chr1:120612182-120612192
33	CHD2	chr1:120612089-120612454	H1-hESC	embryonic stem cell:	n/a	chr1:120612182-120612192
34	CHD2	chr1:120612088-120612444	HepG2	liver:	n/a	chr1:120612182-120612192
35	CTCF	chr1:120611660-120611810	NHEK	skin:	n/a	n/a
36	CTCF	chr1:120611360-120611510	GM12868	blood:	n/a	chr1:120611465-120611475
37	CTCF	chr1:120611880-120612030	AG09319	gingival:	n/a	chr1:120611894-120611903 chr1:120611893-120611906
38	CTCF	chr1:120611440-120611590	AG04449	skin:	n/a	chr1:120611465-120611475
39	CTCF	chr1:120612593-120612674	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr1:120626780-120626930	GM12871	blood:	n/a	n/a
41	CTCF	chr1:120612268-120612322	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:120612229-120612338	MCF-7	breast:	n/a	n/a
43	CTCF	chr1:120611460-120611610	AG09319	gingival:	n/a	chr1:120611465-120611475
44	CTCF	chr1:120611280-120611430	HFF	foreskin:	n/a	n/a
45	CTCF	chr1:120611920-120612070	GM12871	blood:	n/a	n/a
46	CTCF	chr1:120612548-120612679	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:120611483-120611507	MCF-7	breast:	n/a	n/a
48	CTCF	chr1:120611880-120612030	GM06990	blood:	n/a	chr1:120611894-120611903 chr1:120611893-120611906
49	CTCF	chr1:120611443-120611505	H1-hESC	embryonic stem cell:	n/a	chr1:120611465-120611475
50	CTCF	chr1:120611471-120611527	NHEK	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120613447-120613497	CMK	blood:	n/a
2	chr1:120611586-120611636	MCF-7	breast:	n/a
3	chr1:120613447-120613497	CMK	blood:	n/a
4	chr1:120611586-120611636	MCF-7	breast:	n/a
5	chr1:120611593-120611643	Hela-S3	cervix:	n/a
6	chr1:120612152-120612202	LNCaP	prostate:	n/a
7	chr1:120612217-120612267	IMR90	lung:	fetal
8	chr1:120612404-120612454	PANC-1	pancreas:	n/a
9	chr1:120616221-120616271	H1-hESC	embryonic stem cell:	embryo
10	chr1:120612147-120612197	SK-N-SH_RA	brain:	n/a
11	chr1:120612147-120612197	AG04450	lung:	fetal
12	chr1:120611586-120611636	HEK293	kidney:	embryo
13	chr1:120612217-120612267	AG09319	gingival:	n/a
14	chr1:120612147-120612197	BJ	skin:	n/a
15	chr1:120611593-120611643	HepG2	liver:	n/a
16	chr1:120616221-120616271	GM19239	blood:	n/a
17	chr1:120612152-120612202	HRPEpiC	eye:	n/a
18	chr1:120612147-120612197	HEEpiC	esophagus:	n/a
19	chr1:120612152-120612202	HCT-116	colon:	n/a
20	chr1:120613447-120613497	HCT-116	colon:	n/a
21	chr1:120612217-120612267	Jurkat	blood:	n/a
22	chr1:120611586-120611636	BJ	skin:	n/a
23	chr1:120611586-120611636	AG09319	gingival:	n/a
24	chr1:120611593-120611643	H1-hESC	embryonic stem cell:	embryo
25	chr1:120612404-120612454	HCPEpiC	choroid plexus:	n/a
26	chr1:120612217-120612267	GM12878	blood:	n/a
27	chr1:120616221-120616271	GM06990	blood:	n/a
28	chr1:120612217-120612267	H1-hESC	embryonic stem cell:	embryo
29	chr1:120616221-120616271	HCPEpiC	choroid plexus:	n/a
30	chr1:120611593-120611643	IMR90	lung:	fetal
31	chr1:120612217-120612267	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:120612147-120612197	NHBE	bronchial:	n/a
33	chr1:120612404-120612454	MCF10A-Er-Src	breast:	n/a
34	chr1:120612147-120612197	CMK	blood:	n/a
35	chr1:120611593-120611643	HMEC	breast:	n/a
36	chr1:120612147-120612197	HRE	kidney:	n/a
37	chr1:120611586-120611636	HCF	heart:	n/a
38	chr1:120612147-120612197	HAEpiC	amniotic membrane:	n/a
39	chr1:120612147-120612197	GM06990	blood:	n/a
40	chr1:120616221-120616271	AG09319	gingival:	n/a
41	chr1:120612147-120612197	H1-hESC	embryonic stem cell:	embryo
42	chr1:120611586-120611636	AG04449	skin:	fetal
43	chr1:120611593-120611643	GM12878	blood:	n/a
44	chr1:120611593-120611643	HCM	heart:	n/a
45	chr1:120616221-120616271	HUVEC	blood vessel:	n/a
46	chr1:120612147-120612197	HRPEpiC	eye:	n/a
47	chr1:120611593-120611643	ProgFib	skin:	n/a
48	chr1:120611593-120611643	HRPEpiC	eye:	n/a
49	chr1:120612147-120612197	IMR90	lung:	fetal
50	chr1:120612152-120612202	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:120611941..120612674-chr1:145209107..145209637,6	MCF-7	breast:
2	chr1:120611958..120612515-chr1:145208972..145209639,2	NB4	blood:
3	chr1:120610124..120613523-chr1:145208226..145211226,7	MCF-7	breast:
4	chr1:120610094..120613669-chr1:145207447..145211087,11	MCF-7	breast:
5	chr1:120611825..120612753-chr1:145208933..145209629,3	Hela-S3	cervix:
6	chr1:120611803..120612535-chr1:145208972..145209627,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM72B-9	chr1:120619223-120619698	ENSG00000273406.1
2	lnc-FAM72B-4	chr1:120637415-120638073	XLOC_000373
3	lnc-NOTCH2-2	chr1:120617808-120619716	XLOC_000986
4	lnc-FAM72B-4	chr1:120612586-120612625	XLOC_000373
5	lnc-NOTCH2-2	chr1:120615908-120616134	XLOC_000986
6	lnc-NOTCH2-3	chr1:120637309-120637563	expReg_chr1_13425_-

Variant related genes	Relation type
NOTCH2	TF binding region
ENSG00000273406	TF binding region
NOTCH2	CpG island
ENSG00000273406	CpG island
ENSG00000255168	chromatin interactions
ENSG00000213240	chromatin interactions

Extended variants
information (count: 1053 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1053 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113675536	chr1:120611467-120611468	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs138685616	chr1:120611496-120611497	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2489097	chr1:120611498-120611499	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs587614241	chr1:120611539-120611540	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs75248693	chr1:120611554-120611555	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs77254078	chr1:120611555-120611556	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs587670327	chr1:120611560-120611561	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs28616113	chr1:120611605-120611606	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs587726299	chr1:120611607-120611608	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs587629802	chr1:120611641-120611642	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375801236	chr1:120611645-120611646	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs587679182	chr1:120611660-120611661	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs587763305	chr1:120611679-120611680	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs587652141	chr1:120611689-120611690	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs2794167	chr1:120611715-120611716	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs61790276	chr1:120611758-120611759	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2444925	chr1:120611772-120611773	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs587709272	chr1:120611790-120611791	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs2794168	chr1:120611808-120611809	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs61790277	chr1:120611830-120611831	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs587775224	chr1:120611836-120611837	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs60182381	chr1:120611846-120611847	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11801062	chr1:120611876-120611877	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs367580725	chr1:120611927-120611928	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2603926	chr1:120611960-120611961	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs11810554	chr1:120611964-120611965	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs587662181	chr1:120611980-120611981	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs372504208	chr1:120612003-120612004	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs4021006	chr1:120612006-120612007	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200646249	chr1:120612013-120612014	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs56159748	chr1:120612018-120612019	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs377249634	chr1:120612031-120612032	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201668322	chr1:120612034-120612035	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs59571254	chr1:120612040-120612041	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs372737711	chr1:120612041-120612042	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs57122008	chr1:120612043-120612044	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs372170835	chr1:120612046-120612047	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs587656388	chr1:120612117-120612118	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs587701336	chr1:120612124-120612125	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs56375229	chr1:120612154-120612155	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs369508490	chr1:120612157-120612158	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs587606395	chr1:120612159-120612160	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs55899574	chr1:120612163-120612164	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs11801102	chr1:120612168-120612169	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs369205991	chr1:120612189-120612190	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79247096	chr1:120612194-120612195	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372622310	chr1:120612224-120612225	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs587659286	chr1:120612256-120612257	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs375584849	chr1:120612265-120612266	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs11487653	chr1:120612297-120612298	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Aetanephric adenomas	20802469	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120609000-120612200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:120609000-120612400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:120609200-120612400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:120609600-120611800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:120609600-120611800	Active TSS	Brain Germinal Matrix	brain
6	chr1:120609600-120612000	Active TSS	Fetal Kidney	kidney
7	chr1:120609600-120612200	Active TSS	Aorta	Aorta
8	chr1:120609600-120612400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:120609600-120612400	Active TSS	Fetal Brain Female	brain
10	chr1:120609600-120612400	Active TSS	NHLF	lung
11	chr1:120609800-120611600	Active TSS	Adipose Nuclei	Adipose
12	chr1:120609800-120612200	Active TSS	NHDF-Ad	bronchial
13	chr1:120609800-120612400	Active TSS	Ovary	ovary
14	chr1:120609800-120612400	Active TSS	HSMM	muscle
15	chr1:120609800-120612400	Active TSS	HSMMtube	muscle
16	chr1:120610000-120612400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:120610000-120612400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:120610000-120612400	Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:120610000-120612400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:120610000-120612400	Active TSS	HMEC	breast
21	chr1:120610000-120612400	Active TSS	NH-A	brain
22	chr1:120610000-120612400	Active TSS	Osteobl	bone
23	chr1:120610200-120612400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:120610200-120612400	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr1:120610400-120612200	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:120610600-120611600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:120610600-120611600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:120610600-120611600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:120610600-120611600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:120610600-120611600	Flanking Active TSS	Dnd41	blood
31	chr1:120610600-120611800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:120610600-120611800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:120610600-120612200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:120610600-120612400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:120610600-120612400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:120610600-120612400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:120610600-120612400	Active TSS	Fetal Muscle Leg	muscle
38	chr1:120610600-120612400	Active TSS	Fetal Stomach	stomach
39	chr1:120610600-120612400	Active TSS	Right Atrium	heart
40	chr1:120610600-120612400	Active TSS	Stomach Smooth Muscle	stomach
41	chr1:120610800-120611600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:120610800-120611600	Active TSS	Fetal Brain Male	brain
43	chr1:120610800-120611800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr1:120610800-120612200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr1:120610800-120612200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr1:120610800-120612200	Active TSS	Brain Angular Gyrus	brain
47	chr1:120610800-120612200	Active TSS	Brain Substantia Nigra	brain
48	chr1:120610800-120612200	Active TSS	Duodenum Mucosa	Duodenum
49	chr1:120610800-120612200	Active TSS	Fetal Lung	lung
50	chr1:120610800-120612200	Active TSS	A549	lung

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