Variant report

Variant	esv3377861
Chromosome Location	chr2:73113469-73116017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:738)
CpG islands
(count:854)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:738 , 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	chr2:73114871-73115240	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:73114903-73115209	K562	blood:	n/a	n/a
3	ATF2	chr2:73114884-73115250	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr2:73114923-73115351	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr2:73114813-73115288	A549	lung:	n/a	n/a
6	BACH1	chr2:73115017-73115299	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr2:73114727-73115388	A549	lung:	n/a	n/a
8	BCL3	chr2:73114795-73115274	A549	lung:	n/a	n/a
9	BCL3	chr2:73113982-73114577	A549	lung:	n/a	chr2:73114494-73114507 chr2:73114302-73114315
10	BHLHE40	chr2:73114018-73115316	K562	blood:	n/a	chr2:73114872-73114888 chr2:73114492-73114508
11	BHLHE40	chr2:73113985-73114662	HepG2	liver:	n/a	chr2:73114492-73114508
12	BHLHE40	chr2:73116002-73116364	HepG2	liver:	n/a	n/a
13	BRCA1	chr2:73113801-73113922	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr2:73115003-73115361	HepG2	liver:	n/a	n/a
15	BRCA1	chr2:73114995-73115245	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr2:73114286-73114559	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr2:73114875-73115320	K562	blood:	n/a	n/a
18	CCNT2	chr2:73114360-73115332	K562	blood:	n/a	n/a
19	CEBPB	chr2:73113465-73114312	HCT-116	colon:	n/a	n/a
20	CEBPB	chr2:73113661-73114007	K562	blood:	n/a	n/a
21	CEBPB	chr2:73113535-73115279	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr2:73113636-73114023	A549	lung:	n/a	n/a
23	CEBPB	chr2:73113610-73114008	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:73115722-73116609	HepG2	liver:	n/a	n/a
25	CEBPB	chr2:73113516-73114346	A549	lung:	n/a	n/a
26	CEBPB	chr2:73113492-73114201	MCF-7	breast:	n/a	n/a
27	CEBPB	chr2:73115996-73116202	HepG2	liver:	n/a	n/a
28	CEBPB	chr2:73113635-73114130	MCF-7	breast:	n/a	n/a
29	CEBPB	chr2:73113640-73114082	K562	blood:	n/a	n/a
30	CEBPB	chr2:73113626-73114042	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr2:73113669-73113920	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:73114978-73115369	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:73113576-73114091	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr2:73113660-73114017	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:73113642-73114020	HepG2	liver:	n/a	n/a
36	CEBPB	chr2:73115930-73116319	HepG2	liver:	n/a	n/a
37	CEBPB	chr2:73113660-73114018	IMR90	lung:	n/a	n/a
38	CEBPB	chr2:73113617-73114082	ECC-1	luminal epithelium:	n/a	n/a
39	CEBPB	chr2:73113581-73114132	A549	lung:	n/a	n/a
40	CEBPD	chr2:73113705-73113958	HepG2	liver:	n/a	n/a
41	CEBPD	chr2:73113703-73113972	HepG2	liver:	n/a	n/a
42	CEBPD	chr2:73114267-73115320	HepG2	liver:	n/a	n/a
43	CHD1	chr2:73114680-73115266	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr2:73115014-73115255	K562	blood:	n/a	n/a
45	CHD2	chr2:73114966-73115299	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr2:73114279-73114594	HepG2	liver:	n/a	n/a
47	CHD2	chr2:73114986-73115317	HepG2	liver:	n/a	n/a
48	CHD2	chr2:73114033-73115331	Hela-S3	cervix:	n/a	n/a
49	CREB1	chr2:73114117-73115304	A549	lung:	n/a	n/a
50	CTBP2	chr2:73114147-73115434	H1-hESC	embryonic stem cell:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:73114359-73114409	MCF-7	breast:	n/a
2	chr2:73115011-73115061	Hepatocyte	liver:	n/a
3	chr2:73114341-73114391	T-47D	breast:	n/a
4	chr2:73114863-73114913	HMEC	breast:	n/a
5	chr2:73114919-73114969	GM06990	blood:	n/a
6	chr2:73114314-73114364	T-47D	breast:	n/a
7	chr2:73114960-73115010	AG09309	skin:	n/a
8	chr2:73114960-73115010	SAEC	small airway:	n/a
9	chr2:73114426-73114476	Caco-2	colon:	n/a
10	chr2:73114919-73114969	HCM	heart:	n/a
11	chr2:73114359-73114409	HCPEpiC	choroid plexus:	n/a
12	chr2:73114281-73114331	AG10803	skin:	n/a
13	chr2:73114359-73114409	RPTEC	kidney:	n/a
14	chr2:73114610-73114660	BE2_C	brain:	n/a
15	chr2:73114960-73115010	PrEC	prostate:	n/a
16	chr2:73114422-73114472	AG09319	gingival:	n/a
17	chr2:73114341-73114391	SK-N-SH	brain:	n/a
18	chr2:73114256-73114306	HCT-116	colon:	n/a
19	chr2:73114341-73114391	AoSMC	blood vessel:	n/a
20	chr2:73114256-73114306	PFSK-1	brain:	n/a
21	chr2:73114960-73115010	IMR90	lung:	fetal
22	chr2:73114426-73114476	GM12878	blood:	n/a
23	chr2:73115011-73115061	HNPCEpiC	eye:	n/a
24	chr2:73114341-73114391	AG10803	skin:	n/a
25	chr2:73114426-73114476	PrEC	prostate:	n/a
26	chr2:73114341-73114391	HEEpiC	esophagus:	n/a
27	chr2:73114314-73114364	AG10803	skin:	n/a
28	chr2:73114960-73115010	AG09319	gingival:	n/a
29	chr2:73114610-73114660	MCF-7	breast:	n/a
30	chr2:73114256-73114306	BE2_C	brain:	n/a
31	chr2:73114863-73114913	U87	brain:	n/a
32	chr2:73114371-73114421	AoSMC	blood vessel:	n/a
33	chr2:73114371-73114421	Jurkat	blood:	n/a
34	chr2:73114960-73115010	Hela-S3	cervix:	n/a
35	chr2:73114426-73114476	HepG2	liver:	n/a
36	chr2:73114863-73114913	HAEpiC	amniotic membrane:	n/a
37	chr2:73114359-73114409	HCM	heart:	n/a
38	chr2:73114371-73114421	BE2_C	brain:	n/a
39	chr2:73114144-73114194	ProgFib	skin:	n/a
40	chr2:73114422-73114472	AG09309	skin:	n/a
41	chr2:73114256-73114306	Hepatocyte	liver:	n/a
42	chr2:73114960-73115010	SKMC	muscle:	n/a
43	chr2:73114341-73114391	LNCaP	prostate:	n/a
44	chr2:73114426-73114476	AG09319	gingival:	n/a
45	chr2:73114610-73114660	NHBE	bronchial:	n/a
46	chr2:73114314-73114364	HIPEpiC	eye:	n/a
47	chr2:73114863-73114913	HPAEpiC	pulmonary alveolar:	n/a
48	chr2:73114422-73114472	HCT-116	colon:	n/a
49	chr2:73114610-73114660	BJ	skin:	n/a
50	chr2:73114426-73114476	SK-N-SH	brain:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73113851..73116141-chr2:73460063..73461895,2	K562	blood:
2	chr2:73114683..73117579-chr2:73294155..73296243,2	MCF-7	breast:
3	chr2:73086659..73087605-chr2:73114661..73115372,2	K562	blood:
4	chr2:73113720..73115697-chr2:73143241..73144788,2	MCF-7	breast:
5	chr2:71772597..71773411-chr2:73114696..73115261,2	MCF-7	breast:
6	chr2:73114739..73115657-chr2:73162083..73162771,2	MCF-7	breast:
7	chr2:72997707..72998674-chr2:73114643..73115475,6	K562	blood:
8	chr2:73113964..73115739-chr2:73439855..73442724,2	MCF-7	breast:
9	chr2:73114519..73115299-chr2:73161801..73162747,2	K562	blood:
10	chr2:73115327..73117439-chr2:73131780..73134430,2	MCF-7	breast:
11	chr2:73114641..73116374-chr2:73460063..73462016,2	K562	blood:
12	chr2:73113671..73115841-chr2:73142116..73144129,2	MCF-7	breast:
13	chr2:73115414..73118028-chr2:73130339..73132901,2	K562	blood:
14	chr2:73114758..73117255-chr2:73338595..73340339,2	MCF-7	breast:
15	chr2:73114860..73117387-chr2:73297045..73298854,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPR	TF binding region
SPR	CpG island
ENSG00000135638	chromatin interactions
ENSG00000135624	chromatin interactions
ENSG00000135632	chromatin interactions
ENSG00000135617	chromatin interactions
ENSG00000144040	chromatin interactions
ENSG00000135631	chromatin interactions
ENSG00000272702	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2421095	chr2:73113524-73113525	Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149112511	chr2:73113572-73113573	Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs570505620	chr2:73113579-73113580	Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs6742728	chr2:73113601-73113602	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs554968024	chr2:73113602-73113603	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576359222	chr2:73113615-73113616	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370484201	chr2:73113647-73113648	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191126223	chr2:73113685-73113686	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183786353	chr2:73113723-73113724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559079404	chr2:73113731-73113732	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs577442124	chr2:73113733-73113734	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs536721895	chr2:73113772-73113773	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368002451	chr2:73113784-73113785	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545220689	chr2:73113801-73113802	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs143170573	chr2:73113837-73113838	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs371531606	chr2:73113848-73113849	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572278534	chr2:73113874-73113875	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs148090672	chr2:73113883-73113884	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs376619461	chr2:73113980-73113981	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs189194715	chr2:73114055-73114056	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs368493630	chr2:73114076-73114077	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs549543253	chr2:73114116-73114117	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs141830976	chr2:73114130-73114131	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs192890133	chr2:73114144-73114145	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs555422665	chr2:73114165-73114166	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs547101877	chr2:73114186-73114187	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs372924836	chr2:73114220-73114221	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs565890428	chr2:73114243-73114244	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs536468707	chr2:73114244-73114245	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs183060667	chr2:73114264-73114265	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs187395336	chr2:73114298-73114299	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs1876487	chr2:73114352-73114353	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs377156948	chr2:73114356-73114357	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs549915992	chr2:73114363-73114364	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs111893185	chr2:73114457-73114458	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs537432838	chr2:73114477-73114478	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs191521085	chr2:73114511-73114512	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs577407405	chr2:73114517-73114518	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs535077442	chr2:73114520-73114521	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs553506074	chr2:73114542-73114543	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs565912216	chr2:73114546-73114547	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs572176161	chr2:73114547-73114548	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs184034436	chr2:73114555-73114556	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs377531182	chr2:73114575-73114576	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs370621751	chr2:73114645-73114646	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs146099322	chr2:73114673-73114674	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs543400201	chr2:73114813-73114814	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs564501639	chr2:73114823-73114824	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs387907200	chr2:73114865-73114866	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs186554638	chr2:73114934-73114935	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73112800-73114000	Enhancers	Placenta	Placenta
2	chr2:73113200-73113600	Enhancers	Hela-S3	cervix
3	chr2:73113200-73113800	Enhancers	Liver	Liver
4	chr2:73113400-73113600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
5	chr2:73113400-73113600	Enhancers	HepG2	liver
6	chr2:73113400-73114000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:73113600-73113800	Enhancers	Brain Anterior Caudate	brain
8	chr2:73113600-73113800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:73113600-73113800	Enhancers	Spleen	Spleen
10	chr2:73113600-73113800	Enhancers	A549	lung
11	chr2:73113600-73113800	Enhancers	NHEK	skin
12	chr2:73113600-73114000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:73113600-73114000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:73113600-73114000	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr2:73113600-73114000	Enhancers	Fetal Heart	heart
16	chr2:73113600-73114000	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr2:73113600-73114000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:73113600-73114000	Enhancers	HMEC	breast
19	chr2:73113600-73114200	Flanking Active TSS	HepG2	liver
20	chr2:73113600-73114400	Flanking Active TSS	Hela-S3	cervix
21	chr2:73113800-73114000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr2:73113800-73114000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:73113800-73114000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:73113800-73114000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
25	chr2:73113800-73114000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:73113800-73114000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr2:73113800-73114000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr2:73113800-73114000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:73113800-73114000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:73113800-73114000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:73113800-73114000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:73113800-73114000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr2:73113800-73114000	Enhancers	Brain Hippocampus Middle	brain
34	chr2:73113800-73114000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:73113800-73114000	Enhancers	Brain Substantia Nigra	brain
36	chr2:73113800-73114000	Enhancers	Esophagus	oesophagus
37	chr2:73113800-73114000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:73113800-73114000	Bivalent Enhancer	Fetal Brain Female	brain
39	chr2:73113800-73114000	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr2:73113800-73114000	Enhancers	Left Ventricle	heart
41	chr2:73113800-73114000	Enhancers	Lung	lung
42	chr2:73113800-73114000	Enhancers	Pancreas	Pancrea
43	chr2:73113800-73114000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr2:73113800-73114000	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr2:73113800-73114000	Enhancers	Right Ventricle	heart
46	chr2:73113800-73114000	Enhancers	Stomach Mucosa	stomach
47	chr2:73113800-73114000	Enhancers	HSMMtube	muscle
48	chr2:73113800-73114000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr2:73113800-73114000	Enhancers	NHDF-Ad	bronchial
50	chr2:73113800-73114000	Enhancers	NHLF	lung

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