Variant report

Variant	nsv874002
Chromosome Location	chr2:48547751-48610367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:681)
CpG islands
(count:122)
Chromatin interactive
region (count:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:13)

(count:681 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:48567436-48567451	K562	blood:	n/a	n/a
2	ARID3A	chr2:48582705-48582882	K562	blood:	n/a	n/a
3	ARID3A	chr2:48572216-48572796	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:48574979-48575185	K562	blood:	n/a	n/a
5	ARID3A	chr2:48574923-48575175	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:48570947-48571931	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:48584022-48584395	K562	blood:	n/a	n/a
8	ARID3A	chr2:48550653-48550822	K562	blood:	n/a	n/a
9	ARID3A	chr2:48573086-48573910	HepG2	liver:	n/a	n/a
10	BCL3	chr2:48570810-48571714	A549	lung:	n/a	n/a
11	BCLAF1	chr2:48574818-48575241	GM12878	blood:	n/a	n/a
12	BCLAF1	chr2:48580177-48580745	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:48589554-48589602	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:48584258-48584478	GM12878	blood:	n/a	n/a
15	BHLHE40	chr2:48555477-48555585	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:48556596-48556820	HepG2	liver:	n/a	n/a
17	BHLHE40	chr2:48574997-48575123	GM12878	blood:	n/a	n/a
18	BHLHE40	chr2:48584174-48584447	K562	blood:	n/a	n/a
19	BHLHE40	chr2:48572468-48572678	HepG2	liver:	n/a	n/a
20	BRCA1	chr2:48572431-48572575	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr2:48570905-48571653	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr2:48574895-48575259	K562	blood:	n/a	n/a
23	CBX3	chr2:48574779-48575275	HCT-116	colon:	n/a	n/a
24	CBX3	chr2:48550271-48550697	K562	blood:	n/a	n/a
25	CBX3	chr2:48550267-48550659	K562	blood:	n/a	n/a
26	CBX3	chr2:48574799-48575377	K562	blood:	n/a	n/a
27	CBX3	chr2:48574764-48575263	HCT-116	colon:	n/a	n/a
28	CCNT2	chr2:48558619-48558716	K562	blood:	n/a	n/a
29	CCNT2	chr2:48583939-48584139	K562	blood:	n/a	n/a
30	CEBPB	chr2:48588026-48588143	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr2:48568176-48568562	HepG2	liver:	n/a	chr2:48568470-48568483
32	CEBPB	chr2:48572296-48572718	A549	lung:	n/a	n/a
33	CEBPB	chr2:48604722-48604995	IMR90	lung:	n/a	n/a
34	CEBPB	chr2:48601946-48602278	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:48556158-48556415	HepG2	liver:	n/a	chr2:48556271-48556282
36	CEBPB	chr2:48602063-48602289	A549	lung:	n/a	n/a
37	CEBPB	chr2:48572969-48573744	A549	lung:	n/a	chr2:48573236-48573247 chr2:48573234-48573245 chr2:48573236-48573247 chr2:48573234-48573247 chr2:48573234-48573247
38	CEBPB	chr2:48606238-48606553	K562	blood:	n/a	chr2:48606402-48606413
39	CEBPB	chr2:48573088-48573619	A549	lung:	n/a	chr2:48573236-48573247 chr2:48573234-48573245 chr2:48573236-48573247 chr2:48573234-48573247 chr2:48573234-48573247
40	CEBPB	chr2:48556201-48556426	K562	blood:	n/a	chr2:48556271-48556282
41	CEBPB	chr2:48573080-48573598	A549	lung:	n/a	chr2:48573236-48573247 chr2:48573234-48573245 chr2:48573236-48573247 chr2:48573234-48573247 chr2:48573234-48573247
42	CEBPB	chr2:48572348-48572727	A549	lung:	n/a	n/a
43	CEBPB	chr2:48572367-48572729	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr2:48572385-48572757	IMR90	lung:	n/a	n/a
45	CEBPB	chr2:48606395-48606424	H1-hESC	embryonic stem cell:	n/a	chr2:48606402-48606413
46	CEBPB	chr2:48573089-48573373	K562	blood:	n/a	chr2:48573236-48573247 chr2:48573234-48573245 chr2:48573236-48573247 chr2:48573234-48573247 chr2:48573234-48573247
47	CEBPB	chr2:48606363-48606546	A549	lung:	n/a	chr2:48606402-48606413
48	CEBPB	chr2:48572340-48572798	HepG2	liver:	n/a	n/a
49	CEBPB	chr2:48556151-48556394	A549	lung:	n/a	chr2:48556271-48556282
50	CEBPB	chr2:48603558-48603783	IMR90	lung:	n/a	chr2:48603695-48603706

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48584360-48584410	CMK	blood:	n/a
2	chr2:48604775-48604825	HepG2	liver:	n/a
3	chr2:48584360-48584410	H1-hESC	embryonic stem cell:	embryo
4	chr2:48584360-48584410	HRE	kidney:	n/a
5	chr2:48584360-48584410	AG09309	skin:	n/a
6	chr2:48604775-48604825	MCF10A-Er-Src	breast:	n/a
7	chr2:48604775-48604825	NT2-D1	testis:	n/a
8	chr2:48604775-48604825	GM19239	blood:	n/a
9	chr2:48604775-48604825	HCT-116	colon:	n/a
10	chr2:48584360-48584410	U87	brain:	n/a
11	chr2:48584360-48584410	NB4	blood:	n/a
12	chr2:48584360-48584410	HRPEpiC	eye:	n/a
13	chr2:48604775-48604825	RPTEC	kidney:	n/a
14	chr2:48604775-48604825	GM12891	blood:	n/a
15	chr2:48604775-48604825	NHDF-neo	bronchial:	n/a
16	chr2:48584360-48584410	HPAEpiC	pulmonary alveolar:	n/a
17	chr2:48604775-48604825	AG10803	skin:	n/a
18	chr2:48604775-48604825	HIPEpiC	eye:	n/a
19	chr2:48604775-48604825	T-47D	breast:	n/a
20	chr2:48584360-48584410	Jurkat	blood:	n/a
21	chr2:48604775-48604825	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:48584360-48584410	ProgFib	skin:	n/a
23	chr2:48584360-48584410	GM12878	blood:	n/a
24	chr2:48584360-48584410	ovcar-3	ovarian:	n/a
25	chr2:48604775-48604825	SKMC	muscle:	n/a
26	chr2:48604775-48604825	CMK	blood:	n/a
27	chr2:48584360-48584410	HEEpiC	esophagus:	n/a
28	chr2:48584360-48584410	SAEC	small airway:	n/a
29	chr2:48604775-48604825	K562	blood:	n/a
30	chr2:48584360-48584410	HL-60	blood:	n/a
31	chr2:48604775-48604825	HRCEpiC	kidney:	n/a
32	chr2:48584360-48584410	AG04449	skin:	fetal
33	chr2:48584360-48584410	BJ	skin:	n/a
34	chr2:48604775-48604825	AG09319	gingival:	n/a
35	chr2:48584360-48584410	MCF10A-Er-Src	breast:	n/a
36	chr2:48584360-48584410	Hela-S3	cervix:	n/a
37	chr2:48584360-48584410	GM12891	blood:	n/a
38	chr2:48584360-48584410	HEK293	kidney:	embryo
39	chr2:48604775-48604825	NHBE	bronchial:	n/a
40	chr2:48584360-48584410	HCT-116	colon:	n/a
41	chr2:48604775-48604825	HNPCEpiC	eye:	n/a
42	chr2:48584360-48584410	LNCaP	prostate:	n/a
43	chr2:48604775-48604825	AG09309	skin:	n/a
44	chr2:48584360-48584410	BE2_C	brain:	n/a
45	chr2:48584360-48584410	Hepatocyte	liver:	n/a
46	chr2:48604775-48604825	NH-A	brain:	n/a
47	chr2:48584360-48584410	GM06990	blood:	n/a
48	chr2:48604775-48604825	ProgFib	skin:	n/a
49	chr2:48584360-48584410	Caco-2	colon:	n/a
50	chr2:48584360-48584410	SKMC	muscle:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:48578562..48582388-chr2:48582784..48586939,6	K562	blood:
2	chr2:48604176..48606531-chr2:48606806..48608312,2	K562	blood:
3	chr2:48598202..48600856-chr2:48603158..48604738,2	K562	blood:
4	chr2:48517525..48519074-chr2:48557962..48560768,2	K562	blood:
5	chr12:120729263..120729953-chr2:48567408..48568402,2	Hela-S3	cervix:
6	chr2:48568770..48570498-chr2:48574091..48575734,2	MCF-7	breast:
7	chr2:48337910..48340125-chr2:48569442..48571000,2	MCF-7	breast:
8	chr2:48559983..48562796-chr2:48566723..48568963,3	K562	blood:
9	chr2:48592285..48594588-chr2:48601399..48603499,2	MCF-7	breast:
10	chr2:48568928..48571039-chr2:48579815..48581773,2	MCF-7	breast:
11	chr2:48541369..48544104-chr2:48569607..48573166,3	MCF-7	breast:
12	chr2:48541080..48542668-chr2:48550192..48552132,2	MCF-7	breast:
13	chr2:48536399..48538424-chr2:48545720..48548096,2	K562	blood:
14	chr2:48583541..48585248-chr2:48599640..48601828,2	MCF-7	breast:
15	chr2:48541852..48543622-chr2:48550647..48553258,3	MCF-7	breast:
16	chr2:48604176..48606531-chr2:48606806..48608312,2	K562	blood:
17	chr2:48568069..48570400-chr2:48600787..48602390,2	K562	blood:
18	chr2:48550065..48552046-chr2:48557575..48559707,2	MCF-7	breast:
19	chr2:48549627..48551864-chr2:48552790..48555987,3	K562	blood:
20	chr2:48550181..48552303-chr2:48565867..48568039,2	K562	blood:
21	chr2:48583541..48585248-chr2:48599640..48601828,2	MCF-7	breast:
22	chr2:48601929..48604341-chr2:48608996..48611918,2	MCF-7	breast:
23	chr2:48568069..48570400-chr2:48600787..48602390,2	K562	blood:
24	chr2:48502226..48505078-chr2:48564025..48566160,2	K562	blood:
25	chr2:48337775..48340265-chr2:48597214..48600170,2	MCF-7	breast:
26	chr2:48578681..48582388-chr2:48582784..48586647,4	K562	blood:
27	chr2:48545774..48548252-chr2:48556563..48558332,2	K562	blood:
28	chr2:48568770..48570498-chr2:48574091..48575734,2	MCF-7	breast:
29	chr2:48540779..48543289-chr2:48560112..48562451,2	K562	blood:
30	chr2:48541299..48543894-chr2:48556548..48558555,2	MCF-7	breast:
31	chr2:48589573..48591686-chr2:48594924..48597026,2	K562	blood:
32	chr2:48568928..48571039-chr2:48579815..48581773,2	MCF-7	breast:
33	chr2:48552083..48554152-chr2:48555088..48558115,3	K562	blood:
34	chr2:48559522..48562446-chr2:48563870..48566960,3	MCF-7	breast:
35	chr2:48589573..48591686-chr2:48594924..48597026,2	K562	blood:
36	chr2:48559522..48562446-chr2:48563870..48566960,3	MCF-7	breast:
37	chr2:48545774..48548252-chr2:48556563..48558332,2	K562	blood:
38	chr2:48551728..48554180-chr2:48555389..48557801,2	MCF-7	breast:
39	chr2:48558442..48561276-chr2:48561458..48563692,2	K562	blood:
40	chr2:48558442..48561276-chr2:48561458..48563692,2	K562	blood:
41	chr2:48601929..48604341-chr2:48608996..48611918,2	MCF-7	breast:
42	chr2:48578681..48582388-chr2:48582784..48586647,4	K562	blood:
43	chr2:48550065..48552046-chr2:48557575..48559707,2	MCF-7	breast:
44	chr2:48598202..48600856-chr2:48603158..48604738,2	K562	blood:
45	chr2:48578562..48582388-chr2:48582784..48586939,6	K562	blood:
46	chr2:48552083..48554152-chr2:48555088..48558115,3	K562	blood:
47	chr2:48549627..48551864-chr2:48552790..48555987,3	K562	blood:
48	chr2:48542620..48544627-chr2:48553697..48556453,2	K562	blood:
49	chr2:48592285..48594588-chr2:48601399..48603499,2	MCF-7	breast:
50	chr2:48566382..48569170-chr2:48571400..48573761,2	K562	blood:

No data

(count:13 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	FOXN2	hsa-miR-186-5p	chr2:48602603-48602624
2	FOXN2	hsa-miR-186-5p	chr2:48603298-48603319
3	FOXN2	hsa-miR-32-5p	chr2:48605322-48605342
4	FOXN2	hsa-miR-183-5p	chr2:48603727-48603747
5	FOXN2	hsa-miR-183-5p	chr2:48603740-48603746
6	FOXN2	hsa-miR-186-5p	chr2:48605973-48605979
7	FOXN2	hsa-miR-32-5p	chr2:48602583-48602604
8	FOXN2	hsa-miR-32-5p	chr2:48605335-48605342
9	FOXN2	hsa-miR-183-5p	chr2:48605980-48606001
10	FOXN2	hsa-miR-183-5p	chr2:48605994-48606000
11	FOXN2	hsa-miR-186-5p	chr2:48602617-48602624
12	FOXN2	hsa-miR-186-5p	chr2:48605960-48605980
13	FOXN2	hsa-miR-186-5p	chr2:48604712-48604733

Variant related genes	Relation type
RNU4-49P	TF binding region
RNU4-49P	CpG island
ENSG00000202538	chromatin interactions
ENSG00000170802	chromatin interactions
ENSG00000251889	chromatin interactions

Extended variants
information (count: 2643 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2643 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13432998	chr2:48547751-48547752	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112796192	chr2:48547803-48547804	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189596926	chr2:48547822-48547823	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575212787	chr2:48547825-48547826	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192233029	chr2:48547855-48547856	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs540401711	chr2:48547858-48547859	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561892211	chr2:48547861-48547862	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573970789	chr2:48547889-48547890	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs141742544	chr2:48547890-48547891	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562503536	chr2:48547898-48547899	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112376701	chr2:48547906-48547907	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551370418	chr2:48547931-48547932	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559962435	chr2:48547955-48547956	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs527409794	chr2:48547962-48547963	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549148455	chr2:48547979-48547980	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs147101054	chr2:48548001-48548002	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562503138	chr2:48548035-48548036	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs576019900	chr2:48548073-48548074	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375520340	chr2:48548074-48548075	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs564030801	chr2:48548137-48548138	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs149213567	chr2:48548148-48548149	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs184669717	chr2:48548163-48548164	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528316282	chr2:48548174-48548175	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs141114538	chr2:48548194-48548195	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs572550263	chr2:48548267-48548268	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs536779137	chr2:48548368-48548369	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs11680968	chr2:48548379-48548380	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs13385535	chr2:48548442-48548443	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189521106	chr2:48548445-48548446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556147736	chr2:48548449-48548450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528945797	chr2:48548452-48548453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577887403	chr2:48548489-48548490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544655743	chr2:48548490-48548491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191026529	chr2:48548505-48548506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181396848	chr2:48548535-48548536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527375871	chr2:48548540-48548541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542359148	chr2:48548546-48548547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370605300	chr2:48548653-48548654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531749327	chr2:48548656-48548657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200906586	chr2:48548675-48548676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186539364	chr2:48548704-48548705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550365837	chr2:48548712-48548713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571820223	chr2:48548720-48548721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544227614	chr2:48548722-48548723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532870265	chr2:48548750-48548751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547459501	chr2:48548768-48548769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566122007	chr2:48548769-48548770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs137924912	chr2:48548771-48548772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555056840	chr2:48548784-48548785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201349796	chr2:48548869-48548870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Bladder cancer	21909424	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
small cell lung cancer	20016488	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
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2614 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48543200-48553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:48543400-48547800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:48543400-48551800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:48543400-48552000	Weak transcription	Stomach Mucosa	stomach
5	chr2:48543400-48553000	Weak transcription	Lung	lung
6	chr2:48543400-48553000	Weak transcription	Psoas Muscle	Psoas
7	chr2:48543400-48568600	Weak transcription	HSMM	muscle
8	chr2:48543600-48548000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:48543600-48548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:48543600-48548200	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:48543600-48548200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:48543600-48548400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:48543600-48549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:48543600-48550000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:48543600-48550200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:48543600-48551000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:48543600-48552000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:48543600-48552200	Weak transcription	Osteobl	bone
19	chr2:48543600-48553200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:48543600-48553400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:48543600-48554400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:48543600-48555400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:48543600-48556600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:48543600-48559400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:48543600-48561000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:48543600-48570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:48543800-48550000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:48544000-48549800	Enhancers	Primary B cells from peripheral blood	blood
29	chr2:48544000-48550000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:48544200-48549000	Enhancers	Primary B cells from cord blood	blood
31	chr2:48544200-48549400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:48544200-48550000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:48544200-48559600	Weak transcription	Fetal Kidney	kidney
34	chr2:48544400-48549400	Enhancers	Brain Hippocampus Middle	brain
35	chr2:48544400-48549800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:48544400-48551200	Weak transcription	HUVEC	blood vessel
37	chr2:48544400-48552000	Weak transcription	Hela-S3	cervix
38	chr2:48544400-48556200	Weak transcription	NHDF-Ad	bronchial
39	chr2:48544400-48558600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:48544400-48570400	Weak transcription	NHEK	skin
41	chr2:48544400-48570800	Weak transcription	HMEC	breast
42	chr2:48544600-48558600	Weak transcription	Spleen	Spleen
43	chr2:48544600-48564400	Weak transcription	Fetal Intestine Small	intestine
44	chr2:48544800-48559400	Weak transcription	Right Atrium	heart
45	chr2:48545000-48547800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:48545000-48548400	Enhancers	Primary T cells from cord blood	blood
47	chr2:48545200-48551000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr2:48545600-48548200	Enhancers	Liver	Liver
49	chr2:48545800-48552000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:48546000-48547800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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