Variant report

Variant	esv3420946
Chromosome Location	chr9:1050577-1053125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:427)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:1051968-1052204	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr9:1051946-1052195	GM12878	blood:	n/a	n/a
3	CHD1	chr9:1052103-1052254	GM12878	blood:	n/a	n/a
4	CREB1	chr9:1051950-1052246	A549	lung:	n/a	n/a
5	CREB1	chr9:1051929-1052312	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr9:1052004-1052196	GM12891	blood:	n/a	n/a
7	CTCF	chr9:1052000-1052150	HEEpiC	esophagus:	n/a	n/a
8	CTCF	chr9:1051960-1052110	GM12870	blood:	n/a	n/a
9	CTCF	chr9:1051998-1052084	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr9:1052180-1052330	HFF	foreskin:	n/a	n/a
11	CTCF	chr9:1051942-1052230	MCF-7	breast:	n/a	n/a
12	CTCF	chr9:1051980-1052130	HCM	heart:	n/a	n/a
13	CTCF	chr9:1051920-1052070	HFF	foreskin:	n/a	n/a
14	CTCF	chr9:1051980-1052130	GM12867	blood:	n/a	n/a
15	CTCF	chr9:1052000-1052150	NHEK	skin:	n/a	n/a
16	CTCF	chr9:1051960-1052110	HEK293	kidney:	n/a	n/a
17	CTCF	chr9:1052140-1052290	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr9:1051960-1052110	AG04449	skin:	n/a	n/a
19	CTCF	chr9:1051940-1052090	GM12873	blood:	n/a	n/a
20	CTCF	chr9:1051998-1052195	A549	lung:	n/a	n/a
21	CTCF	chr9:1051959-1052163	A549	lung:	n/a	n/a
22	CTCF	chr9:1051960-1052110	GM12868	blood:	n/a	n/a
23	CTCF	chr9:1051960-1052110	HMEC	breast:	n/a	n/a
24	CTCF	chr9:1052060-1052210	HMEC	breast:	n/a	n/a
25	CTCF	chr9:1051940-1052090	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr9:1051980-1052130	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr9:1052000-1052150	GM12874	blood:	n/a	n/a
28	CTCF	chr9:1051959-1052201	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr9:1051771-1052408	A549	lung:	n/a	n/a
30	CTCF	chr9:1052040-1052190	MCF-7	breast:	n/a	n/a
31	CTCF	chr9:1052080-1052230	HRE	kidney:	n/a	n/a
32	CTCF	chr9:1052017-1052173	Lung_OC	lung:	n/a	n/a
33	CTCF	chr9:1051904-1052234	MCF-7	breast:	n/a	n/a
34	CTCF	chr9:1052020-1052170	GM12869	blood:	n/a	n/a
35	CTCF	chr9:1052000-1052150	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr9:1051960-1052110	RPTEC	kidney:	n/a	n/a
37	CTCF	chr9:1052000-1052150	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr9:1051942-1052233	A549	lung:	n/a	n/a
39	CTCF	chr9:1051980-1052130	GM12878	blood:	n/a	n/a
40	CTCF	chr9:1051995-1052180	ProgFib	skin:	n/a	n/a
41	CTCF	chr9:1051907-1052252	Fibrobl	skin:	n/a	n/a
42	CTCF	chr9:1052034-1052172	GM19238	blood:	n/a	n/a
43	CTCF	chr9:1052037-1052157	GM20000	blood:	n/a	n/a
44	CTCF	chr9:1051953-1052214	MCF-7	breast:	n/a	n/a
45	CTCF	chr9:1052000-1052150	A549	lung:	n/a	n/a
46	CTCF	chr9:1052020-1052170	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr9:1052000-1052150	GM06990	blood:	n/a	n/a
48	CTCF	chr9:1052000-1052150	GM12878	blood:	n/a	n/a
49	CTCF	chr9:1051921-1052310	MCF-7	breast:	n/a	n/a
50	CTCF	chr9:1051947-1052206	MCF-7	breast:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:1051505-1051555	HNPCEpiC	eye:	n/a
2	chr9:1050680-1050730	HPAEpiC	pulmonary alveolar:	n/a
3	chr9:1051505-1051555	NT2-D1	testis:	n/a
4	chr9:1052046-1052096	HepG2	liver:	n/a
5	chr9:1052046-1052096	Jurkat	blood:	n/a
6	chr9:1051579-1051629	RPTEC	kidney:	n/a
7	chr9:1052239-1052289	SAEC	small airway:	n/a
8	chr9:1051505-1051555	SAEC	small airway:	n/a
9	chr9:1051505-1051555	HCPEpiC	choroid plexus:	n/a
10	chr9:1050680-1050730	NHBE	bronchial:	n/a
11	chr9:1052573-1052623	SK-N-SH_RA	brain:	n/a
12	chr9:1050680-1050730	Caco-2	colon:	n/a
13	chr9:1052573-1052623	HIPEpiC	eye:	n/a
14	chr9:1050903-1050953	HepG2	liver:	n/a
15	chr9:1051579-1051629	HCPEpiC	choroid plexus:	n/a
16	chr9:1050903-1050953	MCF-7	breast:	n/a
17	chr9:1050680-1050730	NT2-D1	testis:	n/a
18	chr9:1052046-1052096	AoSMC	blood vessel:	n/a
19	chr9:1052046-1052096	BE2_C	brain:	n/a
20	chr9:1052046-1052096	Hepatocyte	liver:	n/a
21	chr9:1051505-1051555	LNCaP	prostate:	n/a
22	chr9:1052573-1052623	PANC-1	pancreas:	n/a
23	chr9:1050680-1050730	HCM	heart:	n/a
24	chr9:1052239-1052289	NT2-D1	testis:	n/a
25	chr9:1052046-1052096	HRPEpiC	eye:	n/a
26	chr9:1050680-1050730	HRE	kidney:	n/a
27	chr9:1052046-1052096	PrEC	prostate:	n/a
28	chr9:1052239-1052289	HepG2	liver:	n/a
29	chr9:1050680-1050730	HCF	heart:	n/a
30	chr9:1051505-1051555	K562	blood:	n/a
31	chr9:1050680-1050730	GM19239	blood:	n/a
32	chr9:1051579-1051629	LNCaP	prostate:	n/a
33	chr9:1051579-1051629	SAEC	small airway:	n/a
34	chr9:1050680-1050730	AoSMC	blood vessel:	n/a
35	chr9:1052239-1052289	BE2_C	brain:	n/a
36	chr9:1050680-1050730	BJ	skin:	n/a
37	chr9:1050680-1050730	HAEpiC	amniotic membrane:	n/a
38	chr9:1051579-1051629	SKMC	muscle:	n/a
39	chr9:1052239-1052289	HCM	heart:	n/a
40	chr9:1051505-1051555	HEK293	kidney:	embryo
41	chr9:1050903-1050953	SK-N-SH_RA	brain:	n/a
42	chr9:1051505-1051555	H1-hESC	embryonic stem cell:	embryo
43	chr9:1052573-1052623	AG04450	lung:	fetal
44	chr9:1050680-1050730	NH-A	brain:	n/a
45	chr9:1051579-1051629	HMEC	breast:	n/a
46	chr9:1052046-1052096	HIPEpiC	eye:	n/a
47	chr9:1050680-1050730	MCF10A-Er-Src	breast:	n/a
48	chr9:1052239-1052289	HRCEpiC	kidney:	n/a
49	chr9:1050680-1050730	AG10803	skin:	n/a
50	chr9:1052239-1052289	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:1052914..1055179-chr9:1057328..1059620,2	MCF-7	breast:
2	chr9:1050736..1051474-chr9:1211377..1212172,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT3-5	chr9:1051571-1051622	NONHSAT129963
2	lnc-DMRT3-5	chr9:1050621-1050775	NONHSAT129963

No data

Variant related genes	Relation type
DMRT2	TF binding region
DMRT2	CpG island

Extended variants
information (count: 130 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72703231	chr9:1050603-1050604	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs10959098	chr9:1050605-1050606	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534538031	chr9:1050609-1050610	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs3812517	chr9:1050614-1050615	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs3812516	chr9:1050623-1050624	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536849805	chr9:1050649-1050650	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs555457612	chr9:1050653-1050654	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs187034452	chr9:1050710-1050711	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs372019885	chr9:1050717-1050718	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs192009713	chr9:1050760-1050761	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs533119122	chr9:1050792-1050793	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs181623013	chr9:1050794-1050795	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs560079310	chr9:1050802-1050803	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs186749403	chr9:1050812-1050813	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs375538181	chr9:1050837-1050838	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs77013856	chr9:1050846-1050847	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs562614953	chr9:1050850-1050851	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs531726482	chr9:1050852-1050853	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs551464908	chr9:1050882-1050883	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565328060	chr9:1050884-1050885	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs549944975	chr9:1050899-1050900	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs12002645	chr9:1050924-1050925	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs548031528	chr9:1050978-1050979	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs7869989	chr9:1050981-1050982	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
25	rs536816615	chr9:1050984-1050985	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs550409851	chr9:1050990-1050991	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs190205220	chr9:1050992-1050993	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs114957944	chr9:1051021-1051022	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs73386585	chr9:1051023-1051024	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs577606622	chr9:1051032-1051033	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs533561182	chr9:1051052-1051053	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs372128789	chr9:1051054-1051055	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs549463751	chr9:1051067-1051068	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs573619998	chr9:1051116-1051117	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs542397910	chr9:1051148-1051149	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs555968978	chr9:1051156-1051157	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs576126724	chr9:1051186-1051187	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs545524022	chr9:1051205-1051206	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs567250144	chr9:1051224-1051225	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs536275722	chr9:1051278-1051279	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565242927	chr9:1051337-1051338	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs566199546	chr9:1051377-1051378	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs182526545	chr9:1051402-1051403	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561528174	chr9:1051431-1051432	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs76298888	chr9:1051444-1051445	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs377085313	chr9:1051472-1051473	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs550378901	chr9:1051505-1051506	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs570312574	chr9:1051516-1051517	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs531299368	chr9:1051519-1051520	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs555412208	chr9:1051537-1051538	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	21272361	CNVD
Autism	22495311	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1048200-1051000	Enhancers	Gastric	stomach
2	chr9:1048400-1051400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
3	chr9:1049600-1050800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr9:1049600-1051600	Enhancers	Pancreas	Pancrea
5	chr9:1049600-1053400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr9:1049800-1050600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr9:1049800-1050600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
8	chr9:1049800-1050600	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr9:1049800-1050600	Bivalent/Poised TSS	A549	lung
10	chr9:1049800-1050800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
11	chr9:1049800-1050800	Bivalent Enhancer	Fetal Heart	heart
12	chr9:1049800-1050800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr9:1049800-1051000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr9:1049800-1051600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr9:1049800-1052200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr9:1049800-1052200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
17	chr9:1049800-1053000	Active TSS	Psoas Muscle	Psoas
18	chr9:1049800-1053200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr9:1049800-1053200	Bivalent Enhancer	Liver	Liver
20	chr9:1050000-1050600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr9:1050000-1050600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr9:1050000-1050600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr9:1050000-1050600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:1050000-1050600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:1050000-1050600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
26	chr9:1050000-1050600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
27	chr9:1050000-1050600	Active TSS	HSMM	muscle
28	chr9:1050000-1050600	Active TSS	HSMMtube	muscle
29	chr9:1050000-1050600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr9:1050000-1050600	Active TSS	NHDF-Ad	bronchial
31	chr9:1050000-1050800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr9:1050000-1050800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr9:1050000-1050800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr9:1050000-1050800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:1050000-1050800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:1050000-1050800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:1050000-1050800	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr9:1050000-1050800	Bivalent Enhancer	Left Ventricle	heart
39	chr9:1050000-1051000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr9:1050000-1051000	Bivalent Enhancer	Spleen	Spleen
41	chr9:1050000-1051200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
42	chr9:1050000-1051200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
43	chr9:1050000-1051200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr9:1050000-1051400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
45	chr9:1050000-1051600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr9:1050000-1051600	Bivalent/Poised TSS	Fetal Thymus	thymus
47	chr9:1050000-1052000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
48	chr9:1050000-1052200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:1050000-1052400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:1050000-1052600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain

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