Variant report

Variant	nsv520175
Chromosome Location	chr2:56228351-56331375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:714)
CpG islands
(count:305)
Chromatin interactive
region (count:31)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:714 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:56236978-56237196	K562	blood:	n/a	n/a
2	ARID3A	chr2:56236932-56237132	HepG2	liver:	n/a	n/a
3	BACH1	chr2:56304682-56304972	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr2:56311315-56311590	K562	blood:	n/a	n/a
5	BRCA1	chr2:56248103-56249019	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr2:56304541-56304880	Hela-S3	cervix:	n/a	chr2:56304685-56304696
7	CEBPB	chr2:56252657-56252989	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:56317423-56317643	A549	lung:	n/a	chr2:56317567-56317578 chr2:56317549-56317560
9	CEBPB	chr2:56272380-56272635	HepG2	liver:	n/a	chr2:56272481-56272492
10	CEBPB	chr2:56251015-56251296	H1-hESC	embryonic stem cell:	n/a	chr2:56251112-56251123
11	CEBPB	chr2:56250953-56251269	A549	lung:	n/a	chr2:56251112-56251123
12	CEBPB	chr2:56329368-56329583	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr2:56317539-56317669	H1-hESC	embryonic stem cell:	n/a	chr2:56317567-56317578 chr2:56317549-56317560
14	CEBPB	chr2:56317438-56317693	HepG2	liver:	n/a	chr2:56317567-56317578 chr2:56317549-56317560
15	CEBPB	chr2:56229156-56229361	A549	lung:	n/a	n/a
16	CEBPB	chr2:56240644-56240950	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr2:56236453-56236683	HepG2	liver:	n/a	chr2:56236578-56236589
18	CEBPB	chr2:56304559-56304786	A549	lung:	n/a	chr2:56304685-56304696
19	CEBPB	chr2:56271302-56271564	HepG2	liver:	n/a	chr2:56271419-56271430
20	CEBPB	chr2:56268116-56268258	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr2:56250945-56251285	IMR90	lung:	n/a	chr2:56251112-56251123
22	CEBPB	chr2:56304549-56304867	HepG2	liver:	n/a	chr2:56304685-56304696
23	CEBPB	chr2:56304632-56304941	H1-hESC	embryonic stem cell:	n/a	chr2:56304685-56304696
24	CEBPB	chr2:56299610-56299775	HepG2	liver:	n/a	n/a
25	CEBPB	chr2:56272376-56272635	A549	lung:	n/a	chr2:56272481-56272492
26	CEBPB	chr2:56236406-56236820	H1-hESC	embryonic stem cell:	n/a	chr2:56236578-56236589
27	CEBPB	chr2:56236086-56236712	IMR90	lung:	n/a	chr2:56236578-56236589
28	CEBPB	chr2:56251027-56251280	K562	blood:	n/a	chr2:56251112-56251123
29	CEBPB	chr2:56250947-56251297	HepG2	liver:	n/a	chr2:56251112-56251123
30	CEBPB	chr2:56304546-56304868	IMR90	lung:	n/a	chr2:56304685-56304696
31	CEBPB	chr2:56317506-56317623	Hela-S3	cervix:	n/a	chr2:56317567-56317578 chr2:56317549-56317560
32	CHD2	chr2:56236105-56236112	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr2:56236980-56237130	GM12870	blood:	n/a	chr2:56237083-56237104 chr2:56237088-56237106
34	CTCF	chr2:56237060-56237210	MCF-7	breast:	n/a	chr2:56237083-56237104 chr2:56237088-56237106
35	CTCF	chr2:56237020-56237170	GM12864	blood:	n/a	chr2:56237083-56237104 chr2:56237088-56237106
36	CTCF	chr2:56237040-56237190	AG04449	skin:	n/a	chr2:56237083-56237104 chr2:56237088-56237106
37	CTCF	chr2:56304800-56304950	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr2:56237038-56237204	HepG2	liver:	n/a	chr2:56237083-56237104 chr2:56237088-56237106
39	CTCF	chr2:56304840-56304990	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr2:56237080-56237230	GM12872	blood:	n/a	chr2:56237083-56237104 chr2:56237088-56237106
41	CTCF	chr2:56237120-56237270	NHLF	lung:	n/a	n/a
42	CTCF	chr2:56304840-56304990	GM12874	blood:	n/a	n/a
43	CTCF	chr2:56237000-56237150	RPTEC	kidney:	n/a	chr2:56237083-56237104 chr2:56237088-56237106
44	CTCF	chr2:56304781-56304935	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr2:56236980-56237130	SAEC	small airway:	n/a	chr2:56237083-56237104 chr2:56237088-56237106
46	CTCF	chr2:56236971-56237231	Spleen_OC	spleen:	n/a	chr2:56237083-56237104 chr2:56237088-56237106
47	CTCF	chr2:56304800-56304950	HCT-116	colon:	n/a	n/a
48	CTCF	chr2:56236895-56237280	H1-hESC	embryonic stem cell:	n/a	chr2:56237083-56237104 chr2:56237088-56237106
49	CTCF	chr2:56237000-56237150	NHDF-neo	bronchial:	n/a	chr2:56237083-56237104 chr2:56237088-56237106
50	CTCF	chr2:56237020-56237170	WERI-Rb-1	eye:	n/a	chr2:56237083-56237104 chr2:56237088-56237106

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:56267246-56267296	SK-N-MC	brain:	n/a
2	chr2:56267246-56267296	PFSK-1	brain:	n/a
3	chr2:56229060-56229110	HCT-116	colon:	n/a
4	chr2:56229060-56229110	H1-hESC	embryonic stem cell:	embryo
5	chr2:56318438-56318488	CMK	blood:	n/a
6	chr2:56318614-56318664	AG09309	skin:	n/a
7	chr2:56229060-56229110	HIPEpiC	eye:	n/a
8	chr2:56267246-56267296	RPTEC	kidney:	n/a
9	chr2:56267246-56267296	AG10803	skin:	n/a
10	chr2:56318438-56318488	Jurkat	blood:	n/a
11	chr2:56236435-56236485	GM19239	blood:	n/a
12	chr2:56318614-56318664	PANC-1	pancreas:	n/a
13	chr2:56318614-56318664	GM06990	blood:	n/a
14	chr2:56318614-56318664	HNPCEpiC	eye:	n/a
15	chr2:56236435-56236485	BE2_C	brain:	n/a
16	chr2:56318438-56318488	HepG2	liver:	n/a
17	chr2:56318438-56318488	HEEpiC	esophagus:	n/a
18	chr2:56318438-56318488	PrEC	prostate:	n/a
19	chr2:56318614-56318664	HRE	kidney:	n/a
20	chr2:56318438-56318488	ProgFib	skin:	n/a
21	chr2:56236435-56236485	HRCEpiC	kidney:	n/a
22	chr2:56267246-56267296	GM19239	blood:	n/a
23	chr2:56267246-56267296	NHDF-neo	bronchial:	n/a
24	chr2:56236435-56236485	HNPCEpiC	eye:	n/a
25	chr2:56318438-56318488	Hela-S3	cervix:	n/a
26	chr2:56267246-56267296	GM06990	blood:	n/a
27	chr2:56267246-56267296	HRPEpiC	eye:	n/a
28	chr2:56267246-56267296	A549	lung:	n/a
29	chr2:56229060-56229110	T-47D	breast:	n/a
30	chr2:56229060-56229110	SKMC	muscle:	n/a
31	chr2:56267246-56267296	Jurkat	blood:	n/a
32	chr2:56267246-56267296	HEK293	kidney:	embryo
33	chr2:56267246-56267296	HAEpiC	amniotic membrane:	n/a
34	chr2:56267246-56267296	K562	blood:	n/a
35	chr2:56236435-56236485	ovcar-3	ovarian:	n/a
36	chr2:56229060-56229110	GM12892	blood:	n/a
37	chr2:56236435-56236485	CMK	blood:	n/a
38	chr2:56229060-56229110	AG04449	skin:	fetal
39	chr2:56229060-56229110	HEK293	kidney:	embryo
40	chr2:56318438-56318488	SK-N-SH_RA	brain:	n/a
41	chr2:56236435-56236485	HRPEpiC	eye:	n/a
42	chr2:56236435-56236485	BJ	skin:	n/a
43	chr2:56236435-56236485	HMEC	breast:	n/a
44	chr2:56318438-56318488	AG09309	skin:	n/a
45	chr2:56267246-56267296	SK-N-SH	brain:	n/a
46	chr2:56318438-56318488	AG04450	lung:	fetal
47	chr2:56267246-56267296	HCM	heart:	n/a
48	chr2:56267246-56267296	HRE	kidney:	n/a
49	chr2:56318614-56318664	U87	brain:	n/a
50	chr2:56267246-56267296	H1-hESC	embryonic stem cell:	embryo

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:56295326..56298009-chr2:56299848..56302574,2	MCF-7	breast:
2	chr2:56264938..56268189-chr2:56268987..56273621,4	K562	blood:
3	chr2:56256665..56259031-chr2:56263506..56265195,2	K562	blood:
4	chr2:56264938..56268189-chr2:56268987..56273621,4	K562	blood:
5	chr2:55993449..55995609-chr2:56244406..56246687,2	MCF-7	breast:
6	chr2:56308630..56311434-chr2:56349661..56352014,2	MCF-7	breast:
7	chr2:56256665..56259031-chr2:56263506..56265195,2	K562	blood:
8	chr2:56235275..56235775-chrX:41191325..41192062,2	Hela-S3	cervix:
9	chr2:56234512..56236770-chr2:56238872..56240573,2	K562	blood:
10	chr2:56310406..56312989-chr2:56352188..56354014,2	MCF-7	breast:
11	chr2:56226604..56228495-chr2:56245596..56247592,2	K562	blood:
12	chr2:56304414..56305364-chr2:56359067..56359975,5	K562	blood:
13	chr2:55945047..55945916-chr2:56236760..56237988,4	MCF-7	breast:
14	chr2:56295326..56298009-chr2:56299848..56302574,2	MCF-7	breast:
15	chr2:56263078..56265066-chr2:56267815..56270034,2	MCF-7	breast:
16	chr2:55945048..55945967-chr2:56236595..56237551,5	K562	blood:
17	chr18:34349661..34350238-chr2:56250449..56251399,2	MCF-7	breast:
18	chr2:56240005..56242551-chr2:56253553..56255982,2	K562	blood:
19	chr2:56274243..56276872-chr2:56278084..56279953,2	K562	blood:
20	chr2:56234512..56236770-chr2:56238872..56240573,2	K562	blood:
21	chr2:55998478..55999313-chr2:56236137..56237588,8	MCF-7	breast:
22	chr2:56304415..56305097-chr2:56358925..56359914,3	MCF-7	breast:
23	chr2:56240005..56242551-chr2:56253553..56255982,2	K562	blood:
24	chr2:56212547..56214405-chr2:56239405..56242295,2	K562	blood:
25	chr2:56304592..56305316-chr2:56360000..56360801,2	MCF-7	breast:
26	chr2:56275921..56278050-chr2:56279081..56281372,2	MCF-7	breast:
27	chr2:56245989..56248851-chr2:56250326..56251890,2	K562	blood:
28	chr2:56304295..56305416-chr2:56357297..56358336,5	MCF-7	breast:
29	chr2:56275921..56278050-chr2:56279081..56281372,2	MCF-7	breast:
30	chr2:56245989..56248851-chr2:56250326..56251890,2	K562	blood:
31	chr2:56263078..56265066-chr2:56267815..56270034,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFEMP1-2	chr2:56304552-56305190	ENSG00000229805
2	lnc-CCDC85A-4	chr2:56261766-56262291	ucscGeneNc_uc002rzk_2
3	lnc-EFEMP1-2	chr2:56317445-56317511	XLOC_002100
4	lnc-EFEMP1-1	chr2:56274357-56274461	ENSG00000226702
5	lnc-EFEMP1-2	chr2:56301789-56305190	XLOC_002100
6	lnc-EFEMP1-2	chr2:56317445-56317517	ENSG00000229805
7	lnc-CCDC85A-4	chr2:56257864-56258003	ucscGeneNc_uc002rzk_2
8	lnc-CCDC85A-4	chr2:56260685-56260828	ucscGeneNc_uc002rzk_2
9	lnc-CCDC85A-4	chr2:56228269-56228379	ucscGeneNc_uc002rzk_2
10	lnc-EFEMP1-2	chr2:56317445-56317514	NONHSAT070819
11	lnc-CCDC85A-2	chr2:56309504-56309580	ENSG00000272180.1
12	lnc-EFEMP1-2	chr2:56301789-56305190	NONHSAT070819
13	lnc-CCDC85A-4	chr2:56250640-56250834	ucscGeneNc_uc002rzk_2
14	lnc-EFEMP1-1	chr2:56240744-56240846	ENSG00000226702

No data

Variant related genes	Relation type
ENSG00000226702	TF binding region
ENSG00000229805	TF binding region
MIR216B	TF binding region
ENSG00000226702	CpG island
ENSG00000229805	CpG island
MIR216B	CpG island
ENSG00000211520	chromatin interactions
ENSG00000226702	chromatin interactions

Extended variants
information (count: 2666 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2666 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13029542	chr2:56228351-56228352	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562183303	chr2:56228354-56228355	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs188198445	chr2:56228358-56228359	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs550989318	chr2:56228410-56228411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191585064	chr2:56228447-56228448	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs573291196	chr2:56228470-56228471	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533729165	chr2:56228506-56228507	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs367578821	chr2:56228517-56228518	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs73940379	chr2:56228541-56228542	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575527704	chr2:56228621-56228622	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs13418127	chr2:56228654-56228655	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555021641	chr2:56228688-56228689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138055785	chr2:56228767-56228768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544439091	chr2:56228808-56228809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182281100	chr2:56228809-56228810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138738241	chr2:56228810-56228811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186606008	chr2:56228824-56228825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540477424	chr2:56228928-56228929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554121846	chr2:56228977-56228978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192542749	chr2:56229060-56229061	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs542873939	chr2:56229182-56229183	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs564443705	chr2:56229201-56229202	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs562150426	chr2:56229229-56229230	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs533414666	chr2:56229271-56229272	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs185543542	chr2:56229274-56229275	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs546602737	chr2:56229357-56229358	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs117441606	chr2:56229378-56229379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569652310	chr2:56229383-56229384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4672084	chr2:56229384-56229385	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566846297	chr2:56229458-56229459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529430578	chr2:56229465-56229466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549204055	chr2:56229514-56229515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112361916	chr2:56229547-56229548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537899098	chr2:56229573-56229574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557574231	chr2:56229619-56229620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190066027	chr2:56229637-56229638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533790535	chr2:56229650-56229651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533637728	chr2:56229681-56229682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377196736	chr2:56229697-56229698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373066242	chr2:56229712-56229713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115467864	chr2:56229784-56229785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529060934	chr2:56229812-56229813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529248737	chr2:56229897-56229898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116908952	chr2:56229918-56229919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556446849	chr2:56229955-56229956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549497410	chr2:56230015-56230016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544652599	chr2:56230034-56230035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11895818	chr2:56230095-56230096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193071199	chr2:56230096-56230097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184925712	chr2:56230111-56230112	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD

Chromatin state (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56222000-56229600	Weak transcription	Fetal Stomach	stomach
2	chr2:56228400-56229800	Enhancers	Fetal Lung	lung
3	chr2:56229000-56229800	Enhancers	Fetal Kidney	kidney
4	chr2:56229600-56230200	Enhancers	Fetal Stomach	stomach
5	chr2:56230200-56235400	Weak transcription	Fetal Stomach	stomach
6	chr2:56231200-56235800	Weak transcription	Fetal Brain Male	brain
7	chr2:56232400-56232600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:56232600-56235800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:56234800-56242800	Enhancers	HUVEC	blood vessel
10	chr2:56235200-56235400	Enhancers	Colon Smooth Muscle	Colon
11	chr2:56235200-56235600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:56235200-56236000	Enhancers	Brain Hippocampus Middle	brain
13	chr2:56235200-56236200	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:56235200-56237000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:56235400-56235600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:56235400-56235600	Bivalent Enhancer	Fetal Lung	lung
17	chr2:56235400-56236000	Enhancers	Brain Anterior Caudate	brain
18	chr2:56235400-56236200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:56235400-56236200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:56235400-56236200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:56235400-56236400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:56235400-56236600	Enhancers	Brain Substantia Nigra	brain
23	chr2:56235400-56236600	Enhancers	Fetal Stomach	stomach
24	chr2:56235400-56236800	Enhancers	Brain Angular Gyrus	brain
25	chr2:56235400-56237000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:56235400-56237000	Enhancers	HSMM	muscle
27	chr2:56235400-56237000	Enhancers	Osteobl	bone
28	chr2:56235600-56236000	Enhancers	Brain Germinal Matrix	brain
29	chr2:56235600-56236800	Enhancers	Fetal Lung	lung
30	chr2:56235600-56237000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:56235600-56237000	Enhancers	NHLF	lung
32	chr2:56235600-56237600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:56235600-56238600	Enhancers	Fetal Kidney	kidney
34	chr2:56235800-56236000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:56235800-56236000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:56235800-56236000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:56235800-56236000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:56235800-56236000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:56235800-56236000	Enhancers	HSMMtube	muscle
40	chr2:56235800-56236200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:56235800-56236200	Enhancers	Ovary	ovary
42	chr2:56235800-56236200	Enhancers	NH-A	brain
43	chr2:56235800-56236400	Enhancers	Fetal Brain Male	brain
44	chr2:56235800-56236600	Enhancers	Fetal Muscle Leg	muscle
45	chr2:56235800-56238600	Enhancers	Fetal Intestine Small	intestine
46	chr2:56236000-56236200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr2:56236000-56236200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr2:56236000-56236200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:56236000-56236200	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr2:56236000-56236200	Enhancers	Colon Smooth Muscle	Colon

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