Variant report

Variant	nsv873722
Chromosome Location	chr2:20652507-20705910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:789)
CpG islands
(count:122)
Chromatin interactive
region (count:157)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:789 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:20674895-20675160	HepG2	liver:	n/a	n/a
2	ATF1	chr2:20674432-20674626	K562	blood:	n/a	n/a
3	ATF1	chr2:20701835-20702190	K562	blood:	n/a	n/a
4	ATF2	chr2:20656744-20657090	GM12878	blood:	n/a	n/a
5	ATF2	chr2:20656745-20657123	GM12878	blood:	n/a	n/a
6	ATF3	chr2:20701896-20702090	K562	blood:	n/a	n/a
7	BATF	chr2:20656853-20657068	GM12878	blood:	n/a	chr2:20656969-20656980
8	BHLHE40	chr2:20696415-20696689	K562	blood:	n/a	n/a
9	BHLHE40	chr2:20691992-20692100	K562	blood:	n/a	n/a
10	BHLHE40	chr2:20696561-20696575	HepG2	liver:	n/a	n/a
11	BRCA1	chr2:20700592-20701392	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr2:20701823-20702215	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr2:20695838-20696468	Hela-S3	cervix:	n/a	chr2:20696011-20696018
14	BRCA1	chr2:20688674-20688711	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:20701920-20702087	K562	blood:	n/a	n/a
16	CEBPB	chr2:20693860-20694269	IMR90	lung:	n/a	n/a
17	CEBPB	chr2:20704620-20704621	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr2:20701874-20702346	A549	lung:	n/a	n/a
19	CEBPB	chr2:20701923-20702147	MCF-7	breast:	n/a	n/a
20	CEBPB	chr2:20701803-20702242	IMR90	lung:	n/a	n/a
21	CEBPB	chr2:20701848-20702222	A549	lung:	n/a	n/a
22	CEBPB	chr2:20701793-20702637	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr2:20701171-20701318	IMR90	lung:	n/a	n/a
24	CEBPB	chr2:20656513-20656711	K562	blood:	n/a	chr2:20656610-20656623 chr2:20656569-20656580 chr2:20656610-20656623 chr2:20656569-20656580
25	CEBPB	chr2:20695881-20696590	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr2:20681899-20682062	HepG2	liver:	n/a	chr2:20681945-20681956
27	CEBPB	chr2:20665721-20666278	MCF-7	breast:	n/a	n/a
28	CEBPB	chr2:20701871-20702194	K562	blood:	n/a	n/a
29	CEBPB	chr2:20700446-20701397	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:20656430-20657082	IMR90	lung:	n/a	chr2:20656610-20656623 chr2:20656569-20656580 chr2:20656610-20656623 chr2:20656569-20656580
31	CEBPB	chr2:20675042-20675164	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:20701826-20702211	K562	blood:	n/a	n/a
33	CEBPB	chr2:20690566-20690778	IMR90	lung:	n/a	n/a
34	CEBPB	chr2:20701916-20702151	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:20701896-20702162	A549	lung:	n/a	n/a
36	CHD1	chr2:20702976-20702987	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr2:20691832-20692050	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr2:20691886-20692037	HepG2	liver:	n/a	n/a
39	CHD2	chr2:20700591-20701322	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr2:20701847-20702192	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr2:20695898-20696553	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr2:20672164-20672169	HepG2	liver:	n/a	n/a
43	CHD2	chr2:20670072-20670366	K562	blood:	n/a	n/a
44	CREB1	chr2:20701893-20702086	A549	lung:	n/a	n/a
45	CTCF	chr2:20652266-20652553	HepG2	liver:	n/a	n/a
46	CTCF	chr2:20652379-20652546	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:20652420-20652570	AG09309	skin:	n/a	n/a
48	CTCF	chr2:20652360-20652510	GM12869	blood:	n/a	n/a
49	CTCF	chr2:20652360-20652510	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr2:20674720-20674870	HepG2	liver:	n/a	chr2:20674738-20674751

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20693659-20693709	HRCEpiC	kidney:	n/a
2	chr2:20693659-20693709	AG10803	skin:	n/a
3	chr2:20688014-20688064	HNPCEpiC	eye:	n/a
4	chr2:20688014-20688064	HAEpiC	amniotic membrane:	n/a
5	chr2:20688014-20688064	MCF-7	breast:	n/a
6	chr2:20693659-20693709	SAEC	small airway:	n/a
7	chr2:20693659-20693709	AG09319	gingival:	n/a
8	chr2:20693659-20693709	NT2-D1	testis:	n/a
9	chr2:20688014-20688064	ProgFib	skin:	n/a
10	chr2:20693659-20693709	SK-N-MC	brain:	n/a
11	chr2:20693659-20693709	ECC-1	luminal epithelium:	n/a
12	chr2:20688014-20688064	AG09319	gingival:	n/a
13	chr2:20693659-20693709	A549	lung:	n/a
14	chr2:20688014-20688064	MCF10A-Er-Src	breast:	n/a
15	chr2:20693659-20693709	H1-hESC	embryonic stem cell:	embryo
16	chr2:20688014-20688064	H1-hESC	embryonic stem cell:	embryo
17	chr2:20688014-20688064	SKMC	muscle:	n/a
18	chr2:20693659-20693709	BJ	skin:	n/a
19	chr2:20688014-20688064	NB4	blood:	n/a
20	chr2:20688014-20688064	GM19239	blood:	n/a
21	chr2:20688014-20688064	HRPEpiC	eye:	n/a
22	chr2:20688014-20688064	IMR90	lung:	fetal
23	chr2:20693659-20693709	NHDF-neo	bronchial:	n/a
24	chr2:20688014-20688064	Jurkat	blood:	n/a
25	chr2:20688014-20688064	AG09309	skin:	n/a
26	chr2:20688014-20688064	NHDF-neo	bronchial:	n/a
27	chr2:20693659-20693709	PFSK-1	brain:	n/a
28	chr2:20688014-20688064	AG10803	skin:	n/a
29	chr2:20688014-20688064	Caco-2	colon:	n/a
30	chr2:20693659-20693709	HRPEpiC	eye:	n/a
31	chr2:20688014-20688064	A549	lung:	n/a
32	chr2:20688014-20688064	K562	blood:	n/a
33	chr2:20693659-20693709	HNPCEpiC	eye:	n/a
34	chr2:20693659-20693709	ProgFib	skin:	n/a
35	chr2:20693659-20693709	GM06990	blood:	n/a
36	chr2:20693659-20693709	PANC-1	pancreas:	n/a
37	chr2:20693659-20693709	SK-N-SH_RA	brain:	n/a
38	chr2:20688014-20688064	PrEC	prostate:	n/a
39	chr2:20693659-20693709	HCM	heart:	n/a
40	chr2:20693659-20693709	HCPEpiC	choroid plexus:	n/a
41	chr2:20693659-20693709	HEEpiC	esophagus:	n/a
42	chr2:20688014-20688064	HRE	kidney:	n/a
43	chr2:20693659-20693709	NHBE	bronchial:	n/a
44	chr2:20693659-20693709	HAEpiC	amniotic membrane:	n/a
45	chr2:20688014-20688064	U87	brain:	n/a
46	chr2:20693659-20693709	K562	blood:	n/a
47	chr2:20688014-20688064	Hepatocyte	liver:	n/a
48	chr2:20693659-20693709	GM19239	blood:	n/a
49	chr2:20688014-20688064	ovcar-3	ovarian:	n/a
50	chr2:20688014-20688064	HEK293	kidney:	embryo

(count:157 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr2:20666575..20668936-chr2:20816033..20817943,2	MCF-7	breast:
2	chr2:20670475..20680240-chr2:20690452..20700902,27	MCF-7	breast:
3	chr2:20673986..20676261-chr2:20681219..20683452,2	K562	blood:
4	chr2:20664607..20668124-chr2:20695979..20697916,4	MCF-7	breast:
5	chr2:20695205..20697695-chr2:20713826..20715493,2	K562	blood:
6	chr1:201543452..201546100-chr2:20667655..20669186,2	MCF-7	breast:
7	chr2:20664924..20667934-chr2:20777556..20780555,3	MCF-7	breast:
8	chr2:20674560..20675097-chr2:20687494..20688080,2	MCF-7	breast:
9	chr2:20580907..20581702-chr2:20674201..20675038,4	MCF-7	breast:
10	chr2:11681425..11683058-chr2:20665986..20668098,2	MCF-7	breast:
11	chr2:20652225..20654236-chr2:20656975..20659900,2	K562	blood:
12	chr2:20670475..20680240-chr2:20690452..20700902,27	MCF-7	breast:
13	chr2:20675942..20677933-chr2:20832476..20834230,2	MCF-7	breast:
14	chr2:20687470..20690910-chr2:20690935..20695735,4	MCF-7	breast:
15	chr11:107581160..107581699-chr2:20677885..20678629,2	MCF-7	breast:
16	chr2:20654763..20657420-chr2:20673291..20675499,2	K562	blood:
17	chr2:20651983..20652871-chr2:20835232..20836648,4	MCF-7	breast:
18	chr2:20645693..20649020-chr2:20672488..20676070,5	K562	blood:
19	chr2:20674241..20675059-chr2:20783155..20784026,4	MCF-7	breast:
20	chr2:20643596..20652981-chr2:20820571..20828990,20	MCF-7	breast:
21	chr2:20673127..20675956-chr2:20701359..20706220,5	MCF-7	breast:
22	chr2:20645732..20654276-chr2:20694371..20698715,15	MCF-7	breast:
23	chr2:20673830..20674482-chr2:20696060..20696573,2	MCF-7	breast:
24	chr2:20671299..20674236-chr2:20698430..20700653,2	MCF-7	breast:
25	chr2:20645834..20649632-chr2:20690184..20694347,6	MCF-7	breast:
26	chr2:20645423..20650748-chr2:20698837..20705480,9	MCF-7	breast:
27	chr2:20677229..20679285-chr2:20689494..20691945,2	K562	blood:
28	chr2:20642734..20659399-chr2:20663729..20679011,83	MCF-7	breast:
29	chr2:20693395..20694964-chr2:20695049..20696809,2	MCF-7	breast:
30	chr2:20685502..20688315-chr2:20696129..20698148,2	MCF-7	breast:
31	chr2:20664006..20666925-chr2:20834002..20835809,3	MCF-7	breast:
32	chr2:20676371..20679223-chr2:20692816..20695545,2	K562	blood:
33	chr2:20656537..20659242-chr2:20696316..20698465,2	MCF-7	breast:
34	chr2:20696704..20698428-chr2:20704189..20706768,2	K562	blood:
35	chr2:20686709..20689700-chr2:20695926..20697709,2	MCF-7	breast:
36	chr2:20693395..20694964-chr2:20695049..20696809,2	MCF-7	breast:
37	chr2:20652177..20652961-chr2:20696034..20696726,2	MCF-7	breast:
38	chr2:20689974..20693202-chr2:20793219..20795538,3	MCF-7	breast:
39	chr2:20671303..20674787-chr2:20817796..20820495,3	MCF-7	breast:
40	chr2:20673619..20674528-chr2:20817295..20818254,2	MCF-7	breast:
41	chr2:20648440..20652073-chr2:20695879..20699978,5	MCF-7	breast:
42	chr2:20701817..20704482-chr2:20832644..20835192,2	MCF-7	breast:
43	chr2:20643286..20659825-chr2:20662702..20680153,143	MCF-7	breast:
44	chr2:20674560..20675097-chr2:20687494..20688080,2	MCF-7	breast:
45	chr2:20690752..20693174-chr2:20694703..20696773,2	MCF-7	breast:
46	chr2:20651875..20654191-chr2:20757660..20759690,2	MCF-7	breast:
47	chr2:20655892..20657578-chr2:20694360..20697457,3	MCF-7	breast:
48	chr2:20649707..20652267-chr2:20705397..20708007,2	MCF-7	breast:
49	chr2:20672268..20676296-chr2:20688942..20691347,3	MCF-7	breast:
50	chr2:20655892..20657578-chr2:20694360..20697457,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOB-1	chr2:20650311-20652994	FPKM1_group_15529_transcript_1
2	lnc-RHOB-1	chr2:20651697-20654380	NONHSAT069442
3	lnc-HS1BP3-3	chr2:20678463-20678716	XLOC_002009
4	lnc-HS1BP3-2	chr2:20700926-20701071	ENSG00000227047.1
5	lnc-HS1BP3-2	chr2:20699331-20699870	ENSG00000227047.1
6	lnc-HS1BP3-3	chr2:20679775-20680000	XLOC_002009

No data

Variant related genes	Relation type
ENSG00000227047	TF binding region
ENSG00000200829	TF binding region
ENSG00000227047	CpG island
ENSG00000200829	CpG island
ENSG00000231948	chromatin interactions
ENSG00000055917	chromatin interactions
ENSG00000196208	chromatin interactions
ENSG00000162377	chromatin interactions
ENSG00000182796	chromatin interactions
ENSG00000227047	chromatin interactions
ENSG00000252216	chromatin interactions
ENSG00000228950	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000135392	chromatin interactions
ENSG00000118960	chromatin interactions
TNFSF9	miRNA target sites

Extended variants
information (count: 2246 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2246 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs342056	chr2:20652507-20652508	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144621773	chr2:20652538-20652539	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs551331351	chr2:20652550-20652551	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs184074156	chr2:20652578-20652579	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs571554860	chr2:20652612-20652613	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs112221680	chr2:20652667-20652668	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs558153468	chr2:20652675-20652676	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs558036035	chr2:20652676-20652677	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs577891858	chr2:20652691-20652692	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs186739041	chr2:20652701-20652702	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs556903459	chr2:20652709-20652710	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs573697428	chr2:20652717-20652718	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs542705432	chr2:20652732-20652733	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs559139546	chr2:20652781-20652782	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs528305001	chr2:20652786-20652787	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs545189904	chr2:20652788-20652789	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs191545893	chr2:20652798-20652799	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs543205222	chr2:20652818-20652819	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs530802411	chr2:20652841-20652842	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs549940258	chr2:20652868-20652869	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs4666395	chr2:20652878-20652879	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs184054902	chr2:20652879-20652880	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs78073360	chr2:20652911-20652912	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs556971679	chr2:20652959-20652960	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs549458125	chr2:20652983-20652984	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs565792938	chr2:20652993-20652994	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs72276954	chr2:20653011-20653012	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs201667913	chr2:20653013-20653014	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs187236769	chr2:20653033-20653034	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs192824050	chr2:20653048-20653049	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs533861271	chr2:20653050-20653051	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs571644781	chr2:20653053-20653054	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs185295813	chr2:20653130-20653131	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs141601889	chr2:20653166-20653167	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs535934446	chr2:20653212-20653213	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs190174939	chr2:20653213-20653214	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs182353850	chr2:20653223-20653224	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs184818598	chr2:20653228-20653229	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs368477995	chr2:20653243-20653244	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs74539457	chr2:20653247-20653248	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs555325718	chr2:20653262-20653263	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs150750461	chr2:20653267-20653268	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs139333495	chr2:20653283-20653284	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs34274054	chr2:20653289-20653290	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs565056264	chr2:20653295-20653296	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs530865259	chr2:20653298-20653299	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs572501554	chr2:20653329-20653330	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs541611412	chr2:20653411-20653412	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs544490692	chr2:20653415-20653416	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs560976648	chr2:20653421-20653422	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:984 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20649800-20653000	Flanking Active TSS	Brain Anterior Caudate	brain
2	chr2:20649800-20653000	Enhancers	Placenta	Placenta
3	chr2:20650200-20652600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:20650400-20653000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:20650400-20653200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:20650600-20652600	Enhancers	Fetal Stomach	stomach
7	chr2:20650600-20652800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:20650600-20652800	Enhancers	HepG2	liver
9	chr2:20650600-20653200	Enhancers	Colon Smooth Muscle	Colon
10	chr2:20650800-20652600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:20650800-20653000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:20650800-20656000	Weak transcription	NHLF	lung
13	chr2:20650800-20659000	Weak transcription	Pancreas	Pancrea
14	chr2:20651000-20652800	Enhancers	HUVEC	blood vessel
15	chr2:20651000-20653200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:20651000-20655000	Weak transcription	Fetal Brain Female	brain
17	chr2:20651200-20653000	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:20651200-20653400	Enhancers	Brain Angular Gyrus	brain
19	chr2:20651200-20654200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:20651200-20655800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:20651200-20656000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:20651200-20656000	Weak transcription	NH-A	brain
23	chr2:20651400-20652800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:20651400-20653400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:20651400-20653400	Enhancers	Brain Substantia Nigra	brain
26	chr2:20651400-20655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:20651400-20655800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:20651400-20656000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:20651400-20656000	Weak transcription	NHDF-Ad	bronchial
30	chr2:20651400-20656600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:20651600-20653200	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:20651600-20656200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:20651600-20656600	Weak transcription	HSMM	muscle
34	chr2:20651800-20652600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:20652000-20652600	Enhancers	Esophagus	oesophagus
36	chr2:20652000-20652600	Enhancers	Ovary	ovary
37	chr2:20652000-20652800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:20652000-20652800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:20652000-20652800	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:20652200-20652600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr2:20652200-20652800	Weak transcription	Fetal Brain Male	brain
42	chr2:20652200-20653400	Enhancers	Brain Hippocampus Middle	brain
43	chr2:20652200-20655000	Weak transcription	Psoas Muscle	Psoas
44	chr2:20652200-20655400	Weak transcription	Right Atrium	heart
45	chr2:20652200-20655800	Weak transcription	Aorta	Aorta
46	chr2:20652400-20657000	Weak transcription	Osteobl	bone
47	chr2:20652600-20652800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr2:20652600-20655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:20652600-20655000	Weak transcription	Esophagus	oesophagus
50	chr2:20652600-20655800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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