Variant report

Variant	esv3430118
Chromosome Location	chr2:56147911-56152306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:229)
CpG islands
(count:918)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:229 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:56149616-56151221	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr2:56150546-56150721	Hela-S3	cervix:	n/a	n/a
3	CCNT2	chr2:56150581-56151079	K562	blood:	n/a	n/a
4	CEBPB	chr2:56150602-56150749	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:56150466-56150721	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr2:56149483-56150125	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr2:56149246-56150165	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr2:56150478-56151175	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr2:56150501-56151164	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr2:56149716-56149916	Hela-S3	cervix:	n/a	n/a
11	CTBP2	chr2:56150129-56151225	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr2:56150560-56150710	SAEC	small airway:	n/a	n/a
13	CTCF	chr2:56150534-56150776	NHEK	skin:	n/a	n/a
14	CTCF	chr2:56150340-56150490	A549	lung:	n/a	n/a
15	CTCF	chr2:56150548-56150751	A549	lung:	n/a	n/a
16	CTCF	chr2:56150420-56150570	HMF	breast:	n/a	n/a
17	CTCF	chr2:56151007-56151093	MCF-7	breast:	n/a	chr2:56151080-56151090 chr2:56151079-56151092
18	CTCF	chr2:56150532-56150760	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:56150880-56151030	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr2:56150560-56150710	HMEC	breast:	n/a	n/a
21	CTCF	chr2:56150575-56150744	Fibrobl	skin:	n/a	n/a
22	CTCF	chr2:56150571-56150725	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr2:56150560-56150710	GM12874	blood:	n/a	n/a
24	CTCF	chr2:56150840-56150990	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr2:56150560-56150710	A549	lung:	n/a	n/a
26	CTCF	chr2:56150860-56151010	HMEC	breast:	n/a	n/a
27	CTCF	chr2:56150800-56150950	SAEC	small airway:	n/a	n/a
28	CTCF	chr2:56150500-56150650	BJ	skin:	n/a	n/a
29	CTCF	chr2:56150524-56150772	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:56150539-56150760	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:56150517-56150792	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:56150980-56151130	AG09319	gingival:	n/a	chr2:56151080-56151090 chr2:56151079-56151092
33	CTCF	chr2:56149061-56149076	K562	blood:	n/a	n/a
34	CTCF	chr2:56150620-56150770	RPTEC	kidney:	n/a	n/a
35	CTCF	chr2:56150600-56150750	GM12865	blood:	n/a	n/a
36	CTCF	chr2:56150975-56151100	MCF-7	breast:	n/a	chr2:56151080-56151090 chr2:56151079-56151092
37	CTCF	chr2:56151009-56151050	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:56150920-56151070	BJ	skin:	n/a	n/a
39	CTCF	chr2:56151020-56151170	AG04449	skin:	n/a	chr2:56151080-56151090 chr2:56151079-56151092
40	CTCF	chr2:56150620-56150770	NHEK	skin:	n/a	n/a
41	CTCF	chr2:56150960-56151110	AG09319	gingival:	n/a	chr2:56151080-56151090 chr2:56151079-56151092
42	CTCF	chr2:56150500-56150650	AG04450	lung:	n/a	n/a
43	CTCF	chr2:56150580-56150730	AG09319	gingival:	n/a	n/a
44	CTCF	chr2:56150520-56150670	HCFaa	heart:	n/a	n/a
45	CTCF	chr2:56150621-56150684	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr2:56151011-56151262	Fibrobl	skin:	n/a	chr2:56151080-56151090 chr2:56151079-56151092
47	CTCF	chr2:56150480-56150630	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr2:56150560-56150710	NHEK	skin:	n/a	n/a
49	CTCF	chr2:56150605-56150707	GM12891	blood:	n/a	n/a
50	CTCF	chr2:56151060-56151210	AG04449	skin:	n/a	chr2:56151080-56151090 chr2:56151079-56151092

(count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:56150925-56150975	BJ	skin:	n/a
2	chr2:56149464-56149514	CMK	blood:	n/a
3	chr2:56150341-56150391	CMK	blood:	n/a
4	chr2:56150925-56150975	BJ	skin:	n/a
5	chr2:56149464-56149514	CMK	blood:	n/a
6	chr2:56150341-56150391	CMK	blood:	n/a
7	chr2:56150341-56150391	H1-hESC	embryonic stem cell:	embryo
8	chr2:56149825-56149875	Caco-2	colon:	n/a
9	chr2:56150478-56150528	SAEC	small airway:	n/a
10	chr2:56150925-56150975	HepG2	liver:	n/a
11	chr2:56150942-56150992	BE2_C	brain:	n/a
12	chr2:56150475-56150525	HPAEpiC	pulmonary alveolar:	n/a
13	chr2:56150478-56150528	Hela-S3	cervix:	n/a
14	chr2:56150925-56150975	LNCaP	prostate:	n/a
15	chr2:56150341-56150391	ECC-1	luminal epithelium:	n/a
16	chr2:56149464-56149514	GM12878	blood:	n/a
17	chr2:56151165-56151215	ovcar-3	ovarian:	n/a
18	chr2:56150341-56150391	LNCaP	prostate:	n/a
19	chr2:56150549-56150599	RPTEC	kidney:	n/a
20	chr2:56150341-56150391	GM12878	blood:	n/a
21	chr2:56149825-56149875	H1-hESC	embryonic stem cell:	embryo
22	chr2:56149464-56149514	NHBE	bronchial:	n/a
23	chr2:56150675-56150725	CMK	blood:	n/a
24	chr2:56152003-56152053	A549	lung:	n/a
25	chr2:56151071-56151121	HNPCEpiC	eye:	n/a
26	chr2:56150478-56150528	U87	brain:	n/a
27	chr2:56152003-56152053	HCPEpiC	choroid plexus:	n/a
28	chr2:56150478-56150528	NB4	blood:	n/a
29	chr2:56150675-56150725	MCF-7	breast:	n/a
30	chr2:56150475-56150525	PANC-1	pancreas:	n/a
31	chr2:56150478-56150528	HCPEpiC	choroid plexus:	n/a
32	chr2:56150549-56150599	GM19239	blood:	n/a
33	chr2:56151139-56151189	GM06990	blood:	n/a
34	chr2:56151179-56151229	HMEC	breast:	n/a
35	chr2:56151179-56151229	HRCEpiC	kidney:	n/a
36	chr2:56150925-56150975	HMEC	breast:	n/a
37	chr2:56150549-56150599	NHDF-neo	bronchial:	n/a
38	chr2:56152003-56152053	SAEC	small airway:	n/a
39	chr2:56150255-56150305	HAEpiC	amniotic membrane:	n/a
40	chr2:56149825-56149875	HRE	kidney:	n/a
41	chr2:56150341-56150391	AG04449	skin:	fetal
42	chr2:56151139-56151189	IMR90	lung:	fetal
43	chr2:56150478-56150528	GM12891	blood:	n/a
44	chr2:56150255-56150305	ProgFib	skin:	n/a
45	chr2:56150942-56150992	GM12892	blood:	n/a
46	chr2:56151179-56151229	LNCaP	prostate:	n/a
47	chr2:56151139-56151189	GM12892	blood:	n/a
48	chr2:56151071-56151121	Jurkat	blood:	n/a
49	chr2:56150942-56150992	H1-hESC	embryonic stem cell:	embryo
50	chr2:56151179-56151229	CMK	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:56122744..56124616-chr2:56146094..56148120,2	MCF-7	breast:
2	chr2:56152117..56154083-chr2:56155709..56157314,3	K562	blood:
3	chr2:56145609..56148482-chr2:56152005..56153536,2	MCF-7	breast:
4	chr2:56149060..56151450-chr2:56151647..56155915,3	MCF-7	breast:
5	chr2:56145609..56148482-chr2:56152005..56153536,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PNPT1-3	chr2:56149082-56149582	NONHSAT070807
2	lnc-PNPT1-3	chr2:56150846-56150917	NONHSAT070808
3	lnc-PNPT1-3	chr2:56149543-56150074	NONHSAT070808
4	lnc-PNPT1-3	chr2:56150846-56150932	NONHSAT070807

No data

Variant related genes	Relation type
EFEMP1	TF binding region
EFEMP1	CpG island
ENSG00000115380	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186090419	chr2:56147928-56147929	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs543068860	chr2:56147929-56147930	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs146782437	chr2:56147934-56147935	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs139210429	chr2:56147952-56147953	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545516540	chr2:56147963-56147964	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559576633	chr2:56147973-56147974	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs114962141	chr2:56148072-56148073	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567406166	chr2:56148084-56148085	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561690744	chr2:56148147-56148148	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12613193	chr2:56148218-56148219	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567407965	chr2:56148219-56148220	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs143547744	chr2:56148285-56148286	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs550269327	chr2:56148435-56148436	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570176431	chr2:56148441-56148442	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369628310	chr2:56148590-56148591	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532533024	chr2:56148622-56148623	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552314252	chr2:56148636-56148637	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566357158	chr2:56148689-56148690	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190446580	chr2:56148771-56148772	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555250368	chr2:56148797-56148798	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538030679	chr2:56148834-56148835	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568288589	chr2:56148873-56148874	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537263489	chr2:56148900-56148901	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536165681	chr2:56148923-56148924	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147173844	chr2:56148930-56148931	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369982510	chr2:56148946-56148947	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545781637	chr2:56148966-56148967	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552733469	chr2:56149013-56149014	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572806230	chr2:56149030-56149031	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138435100	chr2:56149099-56149100	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs569615063	chr2:56149116-56149117	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs530687687	chr2:56149141-56149142	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs538277667	chr2:56149155-56149156	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs113100678	chr2:56149159-56149160	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs183299614	chr2:56149186-56149187	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs373478760	chr2:56149264-56149265	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
37	rs186206418	chr2:56149274-56149275	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
38	rs552652451	chr2:56149307-56149308	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
39	rs565891198	chr2:56149394-56149395	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
40	rs528509941	chr2:56149431-56149432	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
41	rs376660816	chr2:56149456-56149457	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
42	rs369880782	chr2:56149469-56149470	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
43	rs556370248	chr2:56149470-56149471	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
44	rs191113862	chr2:56149471-56149472	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
45	rs2277886	chr2:56149475-56149476	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs150463947	chr2:56149530-56149531	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
47	rs182486751	chr2:56149558-56149559	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
48	rs539120761	chr2:56149564-56149565	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
49	rs577766699	chr2:56149645-56149646	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
50	rs187886381	chr2:56149659-56149660	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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

Chromatin state (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56129200-56150200	Weak transcription	Pancreas	Pancrea
2	chr2:56132000-56149000	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:56137400-56149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:56138800-56149600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
5	chr2:56142200-56149800	Weak transcription	Gastric	stomach
6	chr2:56142400-56149400	Weak transcription	Right Ventricle	heart
7	chr2:56142600-56149200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:56143400-56149000	Weak transcription	Fetal Kidney	kidney
9	chr2:56143600-56148000	Strong transcription	HMEC	breast
10	chr2:56143800-56148600	Weak transcription	Right Atrium	heart
11	chr2:56143800-56150400	Weak transcription	Spleen	Spleen
12	chr2:56144000-56149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:56144200-56148400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:56144200-56149000	Weak transcription	Fetal Lung	lung
15	chr2:56144800-56149600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:56145000-56149000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:56145000-56149000	Weak transcription	Ovary	ovary
18	chr2:56145000-56149000	Weak transcription	HSMMtube	muscle
19	chr2:56145000-56149400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:56145000-56149400	Weak transcription	Fetal Stomach	stomach
21	chr2:56145200-56149000	Weak transcription	NH-A	brain
22	chr2:56145200-56149400	Weak transcription	Lung	lung
23	chr2:56145400-56148800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:56145400-56149000	Weak transcription	NHLF	lung
25	chr2:56146200-56149400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:56146200-56149400	Weak transcription	Brain Substantia Nigra	brain
27	chr2:56146400-56148000	Weak transcription	Adipose Nuclei	Adipose
28	chr2:56146400-56149400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:56146600-56148000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:56146600-56148000	Active TSS	Brain Anterior Caudate	brain
31	chr2:56146800-56149200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:56146800-56150000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:56147000-56148000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:56147000-56149000	Strong transcription	HSMM	muscle
35	chr2:56147000-56149400	Weak transcription	A549	lung
36	chr2:56147200-56148000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:56147400-56148200	Strong transcription	NHEK	skin
38	chr2:56147400-56149200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:56147400-56149800	Transcr. at gene 5' and 3'	Osteobl	bone
40	chr2:56147400-56151400	Active TSS	Aorta	Aorta
41	chr2:56147600-56148000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:56147600-56148600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:56147600-56148600	Weak transcription	Placenta	Placenta
44	chr2:56148000-56148400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:56148000-56148600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:56148000-56148600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:56148000-56148600	Enhancers	Adipose Nuclei	Adipose
48	chr2:56148000-56148800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:56148000-56148800	Weak transcription	Brain Anterior Caudate	brain
50	chr2:56148000-56149000	Weak transcription	HMEC	breast

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