Variant report

Variant	nsv584059
Chromosome Location	chr2:189841052-189868381
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	chr2:189843359-189843871	GM12878	blood:	n/a	n/a
2	ATF2	chr2:189843358-189843943	GM12878	blood:	n/a	n/a
3	BACH1	chr2:189849679-189849710	K562	blood:	n/a	n/a
4	BATF	chr2:189843499-189843807	GM12878	blood:	n/a	n/a
5	BCL11A	chr2:189843396-189843873	GM12878	blood:	n/a	n/a
6	BCL11A	chr2:189843520-189843778	GM12878	blood:	n/a	n/a
7	BCL3	chr2:189843444-189843804	GM12878	blood:	n/a	n/a
8	BHLHE40	chr2:189843031-189843813	GM12878	blood:	n/a	n/a
9	CBX3	chr2:189866750-189867300	HCT-116	colon:	n/a	n/a
10	CEBPB	chr2:189862109-189862340	HepG2	liver:	n/a	chr2:189862184-189862195 chr2:189862182-189862195
11	CEBPB	chr2:189848532-189849169	IMR90	lung:	n/a	n/a
12	CEBPB	chr2:189849485-189849678	A549	lung:	n/a	n/a
13	CHD1	chr2:189866740-189867368	IMR90	lung:	n/a	n/a
14	CTCF	chr2:189848220-189848370	Hela-S3	cervix:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
15	CTCF	chr2:189841500-189841650	AG09309	skin:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
16	CTCF	chr2:189841480-189841630	HMEC	breast:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
17	CTCF	chr2:189848236-189848433	HepG2	liver:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
18	CTCF	chr2:189841500-189841650	AG09319	gingival:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
19	CTCF	chr2:189848280-189848430	NB4	blood:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
20	CTCF	chr2:189848280-189848430	AG04450	lung:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
21	CTCF	chr2:189841460-189841610	WI-38	lung:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
22	CTCF	chr2:189848180-189848330	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr2:189848260-189848410	NHDF-neo	bronchial:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
24	CTCF	chr2:189848280-189848430	HRE	kidney:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
25	CTCF	chr2:189866965-189866993	Lung_OC	lung:	n/a	n/a
26	CTCF	chr2:189841540-189841690	Caco-2	colon:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
27	CTCF	chr2:189848280-189848430	HPF	lung:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
28	CTCF	chr2:189849077-189849095	MCF-7	breast:	n/a	n/a
29	CTCF	chr2:189848240-189848390	GM12873	blood:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
30	CTCF	chr2:189849000-189849150	GM06990	blood:	n/a	chr2:189849095-189849116
31	CTCF	chr2:189848240-189848390	HCT-116	colon:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
32	CTCF	chr2:189841480-189841630	HVMF	connective:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
33	CTCF	chr2:189848160-189848310	WI-38	lung:	n/a	n/a
34	CTCF	chr2:189842963-189843287	A549	lung:	n/a	n/a
35	CTCF	chr2:189841560-189841710	NB4	blood:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
36	CTCF	chr2:189848252-189848392	Fibrobl	skin:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
37	CTCF	chr2:189849100-189849250	RPTEC	kidney:	n/a	n/a
38	CTCF	chr2:189848280-189848430	GM12865	blood:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
39	CTCF	chr2:189848317-189848356	GM13976	blood:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
40	CTCF	chr2:189848260-189848410	GM12865	blood:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
41	CTCF	chr2:189843120-189843270	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr2:189843100-189843250	AG09319	gingival:	n/a	n/a
43	CTCF	chr2:189843160-189843310	HepG2	liver:	n/a	n/a
44	CTCF	chr2:189843160-189843310	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr2:189848260-189848410	AG09319	gingival:	n/a	chr2:189848338-189848354 chr2:189848337-189848355
46	CTCF	chr2:189841500-189841650	HCFaa	heart:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
47	CTCF	chr2:189849020-189849170	NHDF-neo	bronchial:	n/a	chr2:189849095-189849116
48	CTCF	chr2:189849800-189849950	BJ	skin:	n/a	n/a
49	CTCF	chr2:189841520-189841670	MCF-7	breast:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
50	CTCF	chr2:189841580-189841730	HRE	kidney:	n/a	chr2:189841586-189841593 chr2:189841580-189841596

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:189850571-189850621	ovcar-3	ovarian:	n/a
2	chr2:189859022-189859072	SK-N-MC	brain:	n/a
3	chr2:189850571-189850621	HCPEpiC	choroid plexus:	n/a
4	chr2:189850571-189850621	AG09319	gingival:	n/a
5	chr2:189859022-189859072	NHDF-neo	bronchial:	n/a
6	chr2:189859022-189859072	HPAEpiC	pulmonary alveolar:	n/a
7	chr2:189859022-189859072	HRE	kidney:	n/a
8	chr2:189850571-189850621	CMK	blood:	n/a
9	chr2:189850571-189850621	MCF10A-Er-Src	breast:	n/a
10	chr2:189859022-189859072	GM12892	blood:	n/a
11	chr2:189850571-189850621	U87	brain:	n/a
12	chr2:189859022-189859072	HIPEpiC	eye:	n/a
13	chr2:189850571-189850621	GM12892	blood:	n/a
14	chr2:189850571-189850621	GM06990	blood:	n/a
15	chr2:189859022-189859072	AG04450	lung:	fetal
16	chr2:189859022-189859072	HEEpiC	esophagus:	n/a
17	chr2:189859022-189859072	PrEC	prostate:	n/a
18	chr2:189859022-189859072	HUVEC	blood vessel:	n/a
19	chr2:189850571-189850621	HEEpiC	esophagus:	n/a
20	chr2:189859022-189859072	MCF10A-Er-Src	breast:	n/a
21	chr2:189850571-189850621	NHBE	bronchial:	n/a
22	chr2:189850571-189850621	NB4	blood:	n/a
23	chr2:189850571-189850621	HRCEpiC	kidney:	n/a
24	chr2:189859022-189859072	SK-N-SH	brain:	n/a
25	chr2:189850571-189850621	HEK293	kidney:	embryo
26	chr2:189850571-189850621	AG04450	lung:	fetal
27	chr2:189859022-189859072	SAEC	small airway:	n/a
28	chr2:189859022-189859072	IMR90	lung:	fetal
29	chr2:189859022-189859072	CMK	blood:	n/a
30	chr2:189850571-189850621	AoSMC	blood vessel:	n/a
31	chr2:189859022-189859072	ProgFib	skin:	n/a
32	chr2:189859022-189859072	HCF	heart:	n/a
33	chr2:189850571-189850621	H1-hESC	embryonic stem cell:	embryo
34	chr2:189850571-189850621	T-47D	breast:	n/a
35	chr2:189850571-189850621	PrEC	prostate:	n/a
36	chr2:189859022-189859072	SK-N-SH_RA	brain:	n/a
37	chr2:189850571-189850621	HCT-116	colon:	n/a
38	chr2:189850571-189850621	HCF	heart:	n/a
39	chr2:189850571-189850621	NHDF-neo	bronchial:	n/a
40	chr2:189850571-189850621	Hela-S3	cervix:	n/a
41	chr2:189859022-189859072	HNPCEpiC	eye:	n/a
42	chr2:189859022-189859072	MCF-7	breast:	n/a
43	chr2:189859022-189859072	K562	blood:	n/a
44	chr2:189850571-189850621	SK-N-SH_RA	brain:	n/a
45	chr2:189859022-189859072	NB4	blood:	n/a
46	chr2:189859022-189859072	NH-A	brain:	n/a
47	chr2:189859022-189859072	PANC-1	pancreas:	n/a
48	chr2:189859022-189859072	GM19239	blood:	n/a
49	chr2:189850571-189850621	IMR90	lung:	fetal
50	chr2:189850571-189850621	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:189849262..189851265-chr2:189851542..189854419,2	MCF-7	breast:
2	chr2:189388967..189389813-chr2:189842832..189843620,3	MCF-7	breast:
3	chr2:189849262..189851265-chr2:189851542..189854419,2	MCF-7	breast:
4	chr2:189847939..189848875-chr2:190211912..190212800,2	MCF-7	breast:
5	chr2:189468604..189471181-chr2:189847592..189850287,2	MCF-7	breast:
6	chr2:189866664..189868828-chr2:189872499..189874022,2	MCF-7	breast:
7	chr2:189389424..189389930-chr2:189841189..189841702,2	MCF-7	breast:
8	chr2:189840465..189844920-chr2:189846827..189849857,3	MCF-7	breast:
9	chr2:189630030..189631002-chr2:189840905..189842141,9	MCF-7	breast:
10	chr2:189843846..189845833-chr2:189848371..189850816,2	K562	blood:
11	chr2:189467608..189469705-chr2:189839952..189841474,2	MCF-7	breast:
12	chr2:188459276..188460160-chr2:189841055..189841647,2	MCF-7	breast:
13	chr2:189378368..189379278-chr2:189848607..189850003,3	MCF-7	breast:
14	chr2:189843846..189845833-chr2:189848371..189850816,2	K562	blood:
15	chr2:189848219..189848800-chr2:190276497..190277312,2	MCF-7	breast:
16	chr2:189460620..189463074-chr2:189843714..189846986,3	MCF-7	breast:
17	chr2:189465598..189467415-chr2:189847399..189849894,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3606-5p	chr2:189860371-189860391	MIMAT0017983
hsa-miR-1245b-3p	chr2:189842825-189842846	MIMAT0019951
hsa-miR-1245a	chr2:189842862-189842882	MIMAT0005897
hsa-miR-1245b-5p	chr2:189842859-189842879	MIMAT0019950
hsa-miR-3606-3p	chr2:189860397-189860417	MIMAT0022965

No.	miRNA target gene	miRNA name	Chromosome Location
1	COL3A1	hsa-miR-29c-3p	chr2:189857643-189857664
2	COL3A1	hsa-miR-29c-3p	chr2:189859018-189859038
3	COL3A1	hsa-miR-29b-3p	chr2:189857643-189857664
4	COL3A1	hsa-miR-29b-3p	chr2:189859016-189859038

Variant related genes	Relation type
MIR1245A	TF binding region
COL3A1	TF binding region
MIR1245A	CpG island
COL3A1	CpG island
ENSG00000221502	chromatin interactions
ENSG00000168542	chromatin interactions
BRCA2	Mature miRNA region

Extended variants
information (count: 1115 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1115 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7607614	chr2:189841052-189841053	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574467556	chr2:189841087-189841088	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs7567045	chr2:189841109-189841110	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs375740226	chr2:189841125-189841126	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs139236316	chr2:189841232-189841233	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs149979634	chr2:189841261-189841262	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs552102128	chr2:189841274-189841275	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541835053	chr2:189841289-189841290	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs564120369	chr2:189841308-189841309	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs528250975	chr2:189841326-189841327	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs531406968	chr2:189841358-189841359	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs145422036	chr2:189841391-189841392	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs560155225	chr2:189841462-189841463	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs75199454	chr2:189841484-189841485	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs548588912	chr2:189841485-189841486	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs189370014	chr2:189841513-189841514	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs144865512	chr2:189841517-189841518	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs559165156	chr2:189841524-189841525	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs76955295	chr2:189841569-189841570	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs181930165	chr2:189841583-189841584	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs374934474	chr2:189841607-189841608	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs1878201	chr2:189841613-189841614	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574456415	chr2:189841624-189841625	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs113585213	chr2:189841673-189841674	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs187380249	chr2:189841691-189841692	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs562943527	chr2:189841692-189841693	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs1400229	chr2:189841738-189841739	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2351420	chr2:189841753-189841754	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35684706	chr2:189841787-189841788	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs545407657	chr2:189841828-189841829	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs190152342	chr2:189841857-189841858	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs147919042	chr2:189841887-189841888	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs1878202	chr2:189841916-189841917	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561769044	chr2:189841953-189841954	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs79032054	chr2:189841979-189841980	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs548739481	chr2:189842066-189842067	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs568571129	chr2:189842069-189842070	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs77951726	chr2:189842149-189842150	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs73047627	chr2:189842214-189842215	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs76720114	chr2:189842239-189842240	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs571088101	chr2:189842266-189842267	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs181776007	chr2:189842325-189842326	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs186459004	chr2:189842339-189842340	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs190108126	chr2:189842408-189842409	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs535170616	chr2:189842438-189842439	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs145839428	chr2:189842461-189842462	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs575000882	chr2:189842480-189842481	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547785077	chr2:189842514-189842515	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs182329911	chr2:189842515-189842516	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs12478121	chr2:189842530-189842531	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189834200-189842800	Weak transcription	A549	lung
2	chr2:189837400-189844000	Active TSS	NHDF-Ad	bronchial
3	chr2:189837800-189842800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:189837800-189844800	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:189838000-189844600	Active TSS	Right Atrium	heart
6	chr2:189838000-189844800	Active TSS	Adipose Nuclei	Adipose
7	chr2:189838000-189844800	Active TSS	NHLF	lung
8	chr2:189838200-189843000	Active TSS	Fetal Lung	lung
9	chr2:189838200-189844800	Active TSS	Fetal Stomach	stomach
10	chr2:189838200-189846000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:189838200-189849400	Active TSS	Fetal Muscle Leg	muscle
12	chr2:189838400-189842200	Active TSS	NH-A	brain
13	chr2:189838400-189843400	Active TSS	Fetal Intestine Small	intestine
14	chr2:189838400-189844400	Active TSS	Fetal Intestine Large	intestine
15	chr2:189838400-189844600	Active TSS	Fetal Kidney	kidney
16	chr2:189838400-189844600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr2:189838400-189844800	Active TSS	Fetal Muscle Trunk	muscle
18	chr2:189838400-189845000	Active TSS	HSMMtube	muscle
19	chr2:189838600-189843000	Active TSS	Aorta	Aorta
20	chr2:189838600-189843000	Active TSS	HSMM	muscle
21	chr2:189838600-189843600	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:189838600-189844600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:189838600-189844600	Active TSS	Rectal Smooth Muscle	rectum
24	chr2:189838600-189844800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:189838600-189844800	Active TSS	Colon Smooth Muscle	Colon
26	chr2:189838600-189844800	Active TSS	Ovary	ovary
27	chr2:189838800-189842400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:189838800-189843000	Active TSS	Placenta	Placenta
29	chr2:189838800-189843600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr2:189838800-189843600	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr2:189838800-189844000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:189839000-189841400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr2:189839000-189841800	Active TSS	Colonic Mucosa	Colon
34	chr2:189839000-189842200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:189839000-189842400	Active TSS	Duodenum Mucosa	Duodenum
36	chr2:189839000-189842400	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr2:189839000-189843400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr2:189839200-189841600	Active TSS	Right Ventricle	heart
39	chr2:189839200-189842400	Active TSS	Fetal Brain Male	brain
40	chr2:189839200-189843600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:189839400-189841200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:189839400-189841200	Weak transcription	HUVEC	blood vessel
43	chr2:189839400-189858000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:189839800-189843600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:189840600-189841200	Flanking Active TSS	Osteobl	bone
46	chr2:189840600-189841400	Active TSS	Left Ventricle	heart
47	chr2:189840600-189844400	Active TSS	Psoas Muscle	Psoas
48	chr2:189840800-189841400	Active TSS	Small Intestine	intestine
49	chr2:189840800-189841600	Active TSS	Fetal Thymus	thymus
50	chr2:189840800-189843200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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