Variant report

Variant	esv3362527
Chromosome Location	chr2:54951248-54953146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54951797-54951811	HepG2	liver:	n/a	n/a
2	BACH1	chr2:54950247-54951369	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:54952155-54952492	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr2:54951905-54952082	K562	blood:	n/a	n/a
5	CHD2	chr2:54949866-54951299	Hela-S3	cervix:	n/a	n/a
6	CREB1	chr2:54950020-54951343	HepG2	liver:	n/a	n/a
7	CREB1	chr2:54950240-54951278	GM12878	blood:	n/a	n/a
8	CTBP2	chr2:54951489-54952464	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr2:54951960-54952110	GM12871	blood:	n/a	n/a
10	CTCF	chr2:54951680-54951830	SAEC	small airway:	n/a	n/a
11	CTCF	chr2:54952200-54952350	GM12871	blood:	n/a	n/a
12	CTCF	chr2:54951120-54951270	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr2:54951880-54952030	GM12865	blood:	n/a	n/a
14	CTCF	chr2:54951100-54951250	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr2:54951280-54951430	A549	lung:	n/a	n/a
16	CTCF	chr2:54951120-54951270	A549	lung:	n/a	n/a
17	CTCF	chr2:54951900-54952050	GM12875	blood:	n/a	n/a
18	CTCF	chr2:54951680-54951830	GM12865	blood:	n/a	n/a
19	CTCF	chr2:54951280-54951430	BJ	skin:	n/a	n/a
20	CTCF	chr2:54951140-54951290	AG10803	skin:	n/a	n/a
21	CTCF	chr2:54951980-54952130	GM12865	blood:	n/a	chr2:54952116-54952124
22	CTCF	chr2:54951500-54951650	SK-N-SH_RA	brain:	n/a	n/a
23	E2F4	chr2:54951524-54951836	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F6	chr2:54950106-54951885	A549	lung:	n/a	chr2:54950402-54950413 chr2:54950557-54950572
25	FOXA2	chr2:54950294-54951332	A549	lung:	n/a	n/a
26	GATA2	chr2:54951658-54953201	SH-SY5Y	brain:	n/a	chr2:54952670-54952680
27	HA-E2F1	chr2:54949666-54952092	MCF-7	breast:	n/a	chr2:54952002-54952012 chr2:54949703-54949712 chr2:54952005-54952015 chr2:54952022-54952032 chr2:54950557-54950572
28	HCFC1	chr2:54949547-54951672	Hela-S3	cervix:	n/a	n/a
29	HDAC2	chr2:54949985-54951479	HepG2	liver:	n/a	n/a
30	HDAC2	chr2:54951635-54952298	HepG2	liver:	n/a	chr2:54951651-54951665
31	HMGN3	chr2:54950306-54951340	K562	blood:	n/a	n/a
32	JUN	chr2:54951417-54951550	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUND	chr2:54950386-54951460	H1-hESC	embryonic stem cell:	n/a	n/a
34	KAP1	chr2:54949980-54951649	HEK293	kidney:	n/a	chr2:54951554-54951562
35	MAX	chr2:54950240-54951272	A549	lung:	n/a	n/a
36	MAX	chr2:54950029-54951996	A549	lung:	n/a	n/a
37	MAX	chr2:54950085-54951433	SK-N-SH	brain:	n/a	n/a
38	MAX	chr2:54950144-54951461	ECC-1	luminal epithelium:	n/a	n/a
39	MAX	chr2:54951751-54951840	HepG2	liver:	n/a	n/a
40	MAX	chr2:54949978-54951335	MCF-7	breast:	n/a	n/a
41	MAX	chr2:54949795-54952040	A549	lung:	n/a	n/a
42	MAX	chr2:54950045-54951483	NB4	blood:	n/a	n/a
43	MAX	chr2:54949727-54951255	Hela-S3	cervix:	n/a	n/a
44	MAZ	chr2:54950218-54951387	Hela-S3	cervix:	n/a	n/a
45	MAZ	chr2:54952133-54952232	HepG2	liver:	n/a	n/a
46	MAZ	chr2:54951661-54951666	GM12878	blood:	n/a	n/a
47	MAZ	chr2:54951832-54951894	HepG2	liver:	n/a	n/a
48	MAZ	chr2:54950212-54951337	IMR90	lung:	n/a	n/a
49	MTA3	chr2:54949926-54951464	GM12878	blood:	n/a	n/a
50	MXI1	chr2:54949859-54951283	HepG2	liver:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54952487-54952537	GM12891	blood:	n/a
2	chr2:54952078-54952128	HIPEpiC	eye:	n/a
3	chr2:54951562-54951612	K562	blood:	n/a
4	chr2:54952346-54952396	HPAEpiC	pulmonary alveolar:	n/a
5	chr2:54952081-54952131	SK-N-MC	brain:	n/a
6	chr2:54951562-54951612	HNPCEpiC	eye:	n/a
7	chr2:54951307-54951357	SKMC	muscle:	n/a
8	chr2:54952487-54952537	HUVEC	blood vessel:	n/a
9	chr2:54952081-54952131	GM06990	blood:	n/a
10	chr2:54952215-54952265	HCPEpiC	choroid plexus:	n/a
11	chr2:54952346-54952396	HRE	kidney:	n/a
12	chr2:54951307-54951357	HL-60	blood:	n/a
13	chr2:54953117-54953167	NHDF-neo	bronchial:	n/a
14	chr2:54952081-54952131	HIPEpiC	eye:	n/a
15	chr2:54951562-54951612	PANC-1	pancreas:	n/a
16	chr2:54952081-54952131	MCF10A-Er-Src	breast:	n/a
17	chr2:54952487-54952537	AG09309	skin:	n/a
18	chr2:54952346-54952396	HEEpiC	esophagus:	n/a
19	chr2:54952081-54952131	HepG2	liver:	n/a
20	chr2:54952078-54952128	SK-N-MC	brain:	n/a
21	chr2:54952487-54952537	Hepatocyte	liver:	n/a
22	chr2:54952346-54952396	SK-N-SH_RA	brain:	n/a
23	chr2:54952081-54952131	Hepatocyte	liver:	n/a
24	chr2:54952081-54952131	HMEC	breast:	n/a
25	chr2:54952487-54952537	ECC-1	luminal epithelium:	n/a
26	chr2:54952487-54952537	GM19239	blood:	n/a
27	chr2:54951562-54951612	GM12891	blood:	n/a
28	chr2:54951307-54951357	GM06990	blood:	n/a
29	chr2:54952215-54952265	HRCEpiC	kidney:	n/a
30	chr2:54953117-54953167	SK-N-SH	brain:	n/a
31	chr2:54952215-54952265	PFSK-1	brain:	n/a
32	chr2:54952487-54952537	GM12878	blood:	n/a
33	chr2:54952078-54952128	AG04450	lung:	fetal
34	chr2:54952078-54952128	AoSMC	blood vessel:	n/a
35	chr2:54952346-54952396	H1-hESC	embryonic stem cell:	embryo
36	chr2:54952346-54952396	AG04450	lung:	fetal
37	chr2:54951562-54951612	HL-60	blood:	n/a
38	chr2:54952346-54952396	NT2-D1	testis:	n/a
39	chr2:54952078-54952128	NH-A	brain:	n/a
40	chr2:54952081-54952131	T-47D	breast:	n/a
41	chr2:54952078-54952128	HRE	kidney:	n/a
42	chr2:54953117-54953167	GM12878	blood:	n/a
43	chr2:54952487-54952537	NH-A	brain:	n/a
44	chr2:54952487-54952537	SK-N-SH_RA	brain:	n/a
45	chr2:54951307-54951357	ECC-1	luminal epithelium:	n/a
46	chr2:54951307-54951357	HPAEpiC	pulmonary alveolar:	n/a
47	chr2:54952346-54952396	HL-60	blood:	n/a
48	chr2:54952346-54952396	U87	brain:	n/a
49	chr2:54952078-54952128	HAEpiC	amniotic membrane:	n/a
50	chr2:54952078-54952128	SK-N-SH	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTBN1-4	chr2:54951686-54951868	NONHSAT070747
2	lnc-SPTBN1-4	chr2:54951686-54951863	XLOC_001478

No data

Variant related genes	Relation type
EML6	TF binding region
EML6	CpG island
EIF2AK1	miRNA target sites

Extended variants
information (count: 73 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529086057	chr2:54951254-54951255	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs548742531	chr2:54951266-54951267	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs73934805	chr2:54951275-54951276	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574438057	chr2:54951290-54951291	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs535230477	chr2:54951308-54951309	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs571270829	chr2:54951313-54951314	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs76162628	chr2:54951349-54951350	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs554483186	chr2:54951401-54951402	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs184693765	chr2:54951414-54951415	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs354242	chr2:54951453-54951454	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs72913521	chr2:54951482-54951483	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576668094	chr2:54951609-54951610	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs200672462	chr2:54951620-54951621	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs545485374	chr2:54951727-54951728	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
15	rs558780272	chr2:54951749-54951750	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
16	rs6730271	chr2:54951756-54951757	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
17	rs572443618	chr2:54951760-54951761	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
18	rs376369321	chr2:54951772-54951773	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
19	rs144315271	chr2:54951777-54951778	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
20	rs529171417	chr2:54951789-54951790	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
21	rs542477433	chr2:54951794-54951795	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
22	rs562347524	chr2:54951860-54951861	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
23	rs354241	chr2:54951888-54951889	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs144026298	chr2:54951948-54951949	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs571241348	chr2:54951957-54951958	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs146462252	chr2:54951973-54951974	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs547100350	chr2:54951975-54951976	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs567238888	chr2:54951981-54951982	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs536280430	chr2:54951996-54951997	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs556847028	chr2:54952012-54952013	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570308210	chr2:54952052-54952053	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143216688	chr2:54952115-54952116	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559043648	chr2:54952117-54952118	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572423410	chr2:54952129-54952130	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541484635	chr2:54952140-54952141	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576214877	chr2:54952141-54952142	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554556276	chr2:54952153-54952154	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112552344	chr2:54952164-54952165	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574449759	chr2:54952167-54952168	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539190629	chr2:54952172-54952173	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369146275	chr2:54952213-54952214	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562435762	chr2:54952241-54952242	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531572203	chr2:54952278-54952279	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544855116	chr2:54952374-54952375	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565062977	chr2:54952401-54952402	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527412161	chr2:54952414-54952415	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547475831	chr2:54952426-54952427	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373562388	chr2:54952433-54952434	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567272005	chr2:54952440-54952441	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559128826	chr2:54952446-54952447	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Lung adenocarcinoma	17086460	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
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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54949600-54951400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:54949800-54951600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:54949800-54951800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:54949800-54952600	Active TSS	Psoas Muscle	Psoas
5	chr2:54949800-54952800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:54950000-54952000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:54950000-54952000	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr2:54950000-54952200	Active TSS	Esophagus	oesophagus
9	chr2:54950000-54952200	Active TSS	Gastric	stomach
10	chr2:54950000-54952200	Active TSS	Left Ventricle	heart
11	chr2:54950000-54952200	Active TSS	Lung	lung
12	chr2:54950000-54952400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:54950000-54952400	Active TSS	Aorta	Aorta
14	chr2:54950000-54952600	Active TSS	Right Atrium	heart
15	chr2:54950000-54952600	Active TSS	Right Ventricle	heart
16	chr2:54950000-54953400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:54950200-54951400	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr2:54950200-54951400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:54950200-54951400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:54950200-54951600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:54950200-54952000	Active TSS	Small Intestine	intestine
22	chr2:54950200-54952200	Active TSS	Pancreas	Pancrea
23	chr2:54950200-54952200	Active TSS	Spleen	Spleen
24	chr2:54950200-54952400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:54950200-54952400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr2:54950200-54952400	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr2:54950200-54952400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:54950200-54952400	Active TSS	Brain Anterior Caudate	brain
29	chr2:54950200-54952400	Active TSS	Ovary	ovary
30	chr2:54950200-54952400	Active TSS	NHDF-Ad	bronchial
31	chr2:54950200-54952600	Active TSS	Brain Hippocampus Middle	brain
32	chr2:54950200-54952600	Active TSS	Brain Substantia Nigra	brain
33	chr2:54950200-54952600	Active TSS	NHLF	lung
34	chr2:54950200-54953200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr2:54950200-54953400	Active TSS	Brain Cingulate Gyrus	brain
36	chr2:54950200-54953600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:54950200-54954400	Active TSS	Brain Angular Gyrus	brain
38	chr2:54950400-54951400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr2:54950400-54951800	Active TSS	Fetal Brain Male	brain
40	chr2:54950400-54954000	Active TSS	Fetal Brain Female	brain
41	chr2:54950600-54952200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:54950800-54951400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:54950800-54951600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:54950800-54952800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr2:54950800-54953000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr2:54951000-54951400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:54951000-54951400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:54951000-54951400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:54951000-54951400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:54951000-54951400	Flanking Active TSS	Colonic Mucosa	Colon

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