Variant report

Variant	esv3458779
Chromosome Location	chr2:179312250-179314994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:179313624-179314125	GM12878	blood:	n/a	n/a
2	ATF2	chr2:179314686-179315408	GM12878	blood:	n/a	n/a
3	BCLAF1	chr2:179314732-179315487	GM12878	blood:	n/a	chr2:179314781-179314790
4	BCLAF1	chr2:179314834-179316613	GM12878	blood:	n/a	chr2:179315628-179315641 chr2:179316032-179316041 chr2:179315633-179315646 chr2:179316089-179316102 chr2:179315515-179315528 chr2:179315569-179315578 chr2:179315916-179315925
5	BHLHE40	chr2:179314880-179316642	HepG2	liver:	n/a	chr2:179316082-179316098 chr2:179316083-179316099
6	BHLHE40	chr2:179314822-179316636	GM12878	blood:	n/a	chr2:179316082-179316098 chr2:179316083-179316099
7	BHLHE40	chr2:179314820-179316189	K562	blood:	n/a	chr2:179316082-179316098 chr2:179316083-179316099
8	BRCA1	chr2:179314988-179316292	HepG2	liver:	n/a	n/a
9	CBX3	chr2:179314700-179316807	K562	blood:	n/a	n/a
10	CEBPB	chr2:179314741-179315424	GM12878	blood:	n/a	n/a
11	CEBPB	chr2:179314917-179316759	HepG2	liver:	n/a	chr2:179316688-179316699
12	CHD1	chr2:179313941-179314230	GM12878	blood:	n/a	n/a
13	CHD1	chr2:179314668-179316439	GM12878	blood:	n/a	chr2:179315626-179315636
14	CHD1	chr2:179314886-179315337	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr2:179314880-179316606	K562	blood:	n/a	chr2:179316476-179316485 chr2:179315626-179315636
16	CHD2	chr2:179314951-179316688	GM12878	blood:	n/a	chr2:179316476-179316485 chr2:179315626-179315636
17	CREB1	chr2:179314746-179316342	K562	blood:	n/a	n/a
18	CREB1	chr2:179314954-179316689	K562	blood:	n/a	chr2:179316608-179316621
19	CREB1	chr2:179314889-179316360	GM12878	blood:	n/a	n/a
20	CREB1	chr2:179314807-179316831	HepG2	liver:	n/a	chr2:179316608-179316621
21	E2F4	chr2:179314927-179315127	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F6	chr2:179314903-179316675	K562	blood:	n/a	chr2:179316082-179316091 chr2:179316020-179316032
23	EBF1	chr2:179313883-179314173	GM12878	blood:	n/a	chr2:179313994-179314005 chr2:179313993-179314006
24	EBF1	chr2:179314811-179316251	GM12878	blood:	n/a	n/a
25	EBF1	chr2:179314938-179316272	GM12878	blood:	n/a	n/a
26	EGR1	chr2:179314955-179316435	HCT-116	colon:	n/a	chr2:179315946-179315959 chr2:179316013-179316026 chr2:179315576-179315587 chr2:179315945-179315960 chr2:179315910-179315923 chr2:179315575-179315588 chr2:179315913-179315923
27	ELF1	chr2:179314763-179316622	GM12878	blood:	n/a	chr2:179316085-179316097 chr2:179315509-179315521 chr2:179316026-179316038 chr2:179315571-179315580 chr2:179315585-179315597
28	ELK1	chr2:179314899-179315382	GM12878	blood:	n/a	n/a
29	ELK1	chr2:179313822-179314144	GM12878	blood:	n/a	n/a
30	EP300	chr2:179313751-179314118	GM12878	blood:	n/a	n/a
31	EP300	chr2:179314915-179316629	GM12878	blood:	n/a	chr2:179316082-179316091 chr2:179315630-179315646
32	EP300	chr2:179314370-179314387	GM12878	blood:	n/a	n/a
33	EP300	chr2:179313722-179314093	GM12878	blood:	n/a	n/a
34	EP300	chr2:179314834-179316241	GM12878	blood:	n/a	chr2:179316082-179316091 chr2:179315630-179315646
35	ETS1	chr2:179314865-179316255	K562	blood:	n/a	chr2:179315913-179315924
36	FOXA1	chr2:179314674-179316683	HepG2	liver:	n/a	n/a
37	FOXA2	chr2:179314786-179315133	HepG2	liver:	n/a	n/a
38	FOXM1	chr2:179314737-179315396	GM12878	blood:	n/a	n/a
39	FOXM1	chr2:179313698-179314197	GM12878	blood:	n/a	n/a
40	FOXM1	chr2:179314829-179316669	GM12878	blood:	n/a	n/a
41	HA-E2F1	chr2:179314789-179316411	MCF-7	breast:	n/a	chr2:179316082-179316091 chr2:179316020-179316032
42	HCFC1	chr2:179314909-179316693	K562	blood:	n/a	n/a
43	HEY1	chr2:179314868-179316778	HepG2	liver:	n/a	chr2:179316037-179316052 chr2:179316027-179316042
44	HEY1	chr2:179314651-179316574	K562	blood:	n/a	chr2:179316037-179316052 chr2:179316027-179316042
45	IRF1	chr2:179314908-179316597	K562	blood:	n/a	chr2:179316008-179316022 chr2:179315504-179315518 chr2:179316029-179316043 chr2:179315941-179315955 chr2:179315545-179315559 chr2:179315914-179315928
46	IRF3	chr2:179313756-179313990	GM12878	blood:	n/a	n/a
47	JUND	chr2:179314818-179316627	K562	blood:	n/a	n/a
48	JUND	chr2:179314874-179315134	HepG2	liver:	n/a	n/a
49	KAP1	chr2:179314749-179316757	HEK293	kidney:	n/a	n/a
50	MAX	chr2:179314888-179315284	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:179314738-179314788	HEK293	kidney:	embryo
2	chr2:179312799-179312849	HCPEpiC	choroid plexus:	n/a
3	chr2:179312799-179312849	MCF-7	breast:	n/a
4	chr2:179312799-179312849	ovcar-3	ovarian:	n/a
5	chr2:179314738-179314788	HPAEpiC	pulmonary alveolar:	n/a
6	chr2:179312799-179312849	CMK	blood:	n/a
7	chr2:179314738-179314788	H1-hESC	embryonic stem cell:	embryo
8	chr2:179312799-179312849	SK-N-SH	brain:	n/a
9	chr2:179312799-179312849	HNPCEpiC	eye:	n/a
10	chr2:179314738-179314788	HEEpiC	esophagus:	n/a
11	chr2:179314738-179314788	GM12892	blood:	n/a
12	chr2:179312799-179312849	PrEC	prostate:	n/a
13	chr2:179314738-179314788	K562	blood:	n/a
14	chr2:179312799-179312849	NT2-D1	testis:	n/a
15	chr2:179312799-179312849	BJ	skin:	n/a
16	chr2:179312799-179312849	GM12878	blood:	n/a
17	chr2:179314738-179314788	CMK	blood:	n/a
18	chr2:179314738-179314788	AoSMC	blood vessel:	n/a
19	chr2:179314738-179314788	HRCEpiC	kidney:	n/a
20	chr2:179312799-179312849	AG04450	lung:	fetal
21	chr2:179314738-179314788	U87	brain:	n/a
22	chr2:179312799-179312849	BE2_C	brain:	n/a
23	chr2:179312799-179312849	HRCEpiC	kidney:	n/a
24	chr2:179312799-179312849	HAEpiC	amniotic membrane:	n/a
25	chr2:179312799-179312849	ProgFib	skin:	n/a
26	chr2:179314738-179314788	NB4	blood:	n/a
27	chr2:179312799-179312849	HL-60	blood:	n/a
28	chr2:179314738-179314788	HCF	heart:	n/a
29	chr2:179312799-179312849	HIPEpiC	eye:	n/a
30	chr2:179314738-179314788	AG09309	skin:	n/a
31	chr2:179312799-179312849	Hela-S3	cervix:	n/a
32	chr2:179314738-179314788	ECC-1	luminal epithelium:	n/a
33	chr2:179314738-179314788	LNCaP	prostate:	n/a
34	chr2:179314738-179314788	Jurkat	blood:	n/a
35	chr2:179312799-179312849	SAEC	small airway:	n/a
36	chr2:179314738-179314788	PFSK-1	brain:	n/a
37	chr2:179312799-179312849	LNCaP	prostate:	n/a
38	chr2:179312799-179312849	K562	blood:	n/a
39	chr2:179314738-179314788	AG04449	skin:	fetal
40	chr2:179314738-179314788	SK-N-MC	brain:	n/a
41	chr2:179314738-179314788	RPTEC	kidney:	n/a
42	chr2:179312799-179312849	HEK293	kidney:	embryo
43	chr2:179312799-179312849	PFSK-1	brain:	n/a
44	chr2:179314738-179314788	MCF-7	breast:	n/a
45	chr2:179314738-179314788	MCF10A-Er-Src	breast:	n/a
46	chr2:179312799-179312849	HCM	heart:	n/a
47	chr2:179312799-179312849	Jurkat	blood:	n/a
48	chr2:179314738-179314788	SAEC	small airway:	n/a
49	chr2:179312799-179312849	MCF10A-Er-Src	breast:	n/a
50	chr2:179312799-179312849	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:179311363..179318324-chr2:179340414..179346232,28	K562	blood:
2	chr2:179276988..179281129-chr2:179311895..179317764,7	MCF-7	breast:
3	chr2:179313693..179317837-chr2:179319182..179322709,8	K562	blood:
4	chr2:179312045..179317660-chr2:179337933..179347437,24	MCF-7	breast:
5	chr2:178985399..178987987-chr2:179314612..179317404,2	MCF-7	breast:
6	chr2:178976419..178978821-chr2:179313368..179316809,4	K562	blood:
7	chr2:179310863..179318324-chr2:179338966..179346608,29	K562	blood:
8	chr2:179311612..179313781-chr2:179328660..179331380,2	K562	blood:
9	chr2:179314051..179317404-chr2:179386204..179389847,5	K562	blood:
10	chr2:179277180..179281325-chr2:179314213..179317479,5	K562	blood:
11	chr2:179057756..179060082-chr2:179314891..179318046,3	MCF-7	breast:
12	chr2:179312406..179314073-chr2:179314243..179316047,2	K562	blood:
13	chr2:179314981..179317756-chr2:179318011..179323890,9	K562	blood:
14	chr2:179314978..179315573-chr4:40058391..40059067,2	Hela-S3	cervix:
15	chr2:179314905..179315776-chr6:52148839..52149715,2	Hela-S3	cervix:
16	chr2:179278648..179281403-chr2:179313491..179316018,3	MCF-7	breast:
17	chr2:179314444..179318442-chr2:179340876..179346721,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238082	TF binding region
PRKRA	TF binding region
DFNB59	TF binding region
ENSG00000238082	CpG island
PRKRA	CpG island
DFNB59	CpG island
ENSG00000079156	chromatin interactions
ENSG00000112118	chromatin interactions
ENSG00000237298	chromatin interactions
ENSG00000078177	chromatin interactions
ENSG00000180228	chromatin interactions
ENSG00000205794	chromatin interactions
ENSG00000204311	chromatin interactions
ENSG00000116095	chromatin interactions
ENSG00000238082	chromatin interactions
ENSG00000223960	chromatin interactions
ENSG00000079150	chromatin interactions
ENSG00000155636	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546281621	chr2:179312264-179312265	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs372348526	chr2:179312283-179312284	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs567983850	chr2:179312304-179312305	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs562503084	chr2:179312358-179312359	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs538381499	chr2:179312387-179312388	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs74711279	chr2:179312438-179312439	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs150523431	chr2:179312440-179312441	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs370273019	chr2:179312441-179312442	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs74656969	chr2:179312443-179312444	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs375518932	chr2:179312472-179312473	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs556583497	chr2:179312501-179312502	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs542872236	chr2:179312521-179312522	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs182513812	chr2:179312564-179312565	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs148312742	chr2:179312605-179312606	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs3752689	chr2:179312613-179312614	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs13029484	chr2:179312634-179312635	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs72953357	chr2:179312637-179312638	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141426364	chr2:179312662-179312663	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs73036304	chr2:179312680-179312681	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538312732	chr2:179312682-179312683	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs115149658	chr2:179312689-179312690	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs188360043	chr2:179312695-179312696	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs537819664	chr2:179312797-179312798	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs73036307	chr2:179312800-179312801	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572164258	chr2:179312815-179312816	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs574774265	chr2:179312820-179312821	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs192199140	chr2:179312863-179312864	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs553640453	chr2:179312899-179312900	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs182990851	chr2:179312953-179312954	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs56986537	chr2:179313004-179313005	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562666362	chr2:179313046-179313047	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs188687653	chr2:179313193-179313194	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs568464596	chr2:179313223-179313224	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs193300959	chr2:179313250-179313251	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs554414810	chr2:179313251-179313252	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs200862678	chr2:179313256-179313257	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs150820665	chr2:179313290-179313291	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs574367993	chr2:179313318-179313319	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs184303403	chr2:179313348-179313349	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs548077498	chr2:179313402-179313403	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs564486085	chr2:179313432-179313433	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs533593245	chr2:179313437-179313438	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs73036309	chr2:179313477-179313478	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568957236	chr2:179313482-179313483	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs112087515	chr2:179313520-179313521	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs139797232	chr2:179313543-179313544	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs548203521	chr2:179313600-179313601	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs145295923	chr2:179313637-179313638	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs376494491	chr2:179313660-179313661	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs13382684	chr2:179313682-179313683	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:56)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
2	chr2:179280200-179314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:179290200-179312800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:179290800-179312600	Strong transcription	Dnd41	blood
5	chr2:179291000-179313200	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr2:179291000-179313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:179291000-179313600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:179291200-179312800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:179291200-179312800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:179291200-179312800	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:179291200-179313600	Strong transcription	Fetal Thymus	thymus
12	chr2:179291200-179313800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:179291400-179312600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:179291400-179312800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:179291400-179313400	Strong transcription	HSMM	muscle
16	chr2:179291400-179313600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr2:179291600-179312600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:179291600-179312800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:179291600-179312800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:179291600-179313200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:179291600-179313400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:179291600-179313600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:179291800-179313000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:179291800-179314000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:179292000-179314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:179292400-179312800	Weak transcription	Fetal Heart	heart
27	chr2:179293200-179312600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:179293600-179313000	Strong transcription	Liver	Liver
29	chr2:179293800-179313600	Strong transcription	Adipose Nuclei	Adipose
30	chr2:179293800-179313800	Strong transcription	HUVEC	blood vessel
31	chr2:179294000-179313000	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:179294200-179314200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:179295400-179312800	Strong transcription	HepG2	liver
34	chr2:179295400-179313600	Strong transcription	Fetal Intestine Large	intestine
35	chr2:179295400-179314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:179297000-179313200	Weak transcription	Right Atrium	heart
37	chr2:179298600-179314400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:179299600-179314800	Weak transcription	Small Intestine	intestine
39	chr2:179302000-179313400	Strong transcription	NHDF-Ad	bronchial
40	chr2:179302600-179313000	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:179303200-179313800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:179303200-179313800	Strong transcription	NH-A	brain
43	chr2:179304000-179314200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:179304400-179313400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr2:179304400-179314000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:179304600-179313600	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr2:179304600-179314000	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr2:179304600-179314000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:179304800-179313200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr2:179304800-179313200	Strong transcription	K562	blood

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