Variant report

Variant	esv1818054
Chromosome Location	chr1:120469050-120697156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3343)
CpG islands
(count:734)
Chromatin interactive
region (count:89)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:3343 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:120568470-120568695	K562	blood:	n/a	n/a
2	ARID3A	chr1:120688541-120688741	K562	blood:	n/a	n/a
3	ARID3A	chr1:120563645-120563712	K562	blood:	n/a	n/a
4	ARID3A	chr1:120688393-120688593	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:120500732-120501324	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:120575043-120575438	HepG2	liver:	n/a	n/a
7	ATF1	chr1:120510681-120510979	K562	blood:	n/a	n/a
8	ATF1	chr1:120594168-120594200	K562	blood:	n/a	n/a
9	ATF1	chr1:120559823-120559836	K562	blood:	n/a	n/a
10	ATF1	chr1:120604273-120604274	K562	blood:	n/a	n/a
11	ATF1	chr1:120688395-120688588	K562	blood:	n/a	n/a
12	ATF1	chr1:120472353-120472428	K562	blood:	n/a	n/a
13	BACH1	chr1:120563721-120563748	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr1:120472172-120472208	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr1:120566735-120567174	K562	blood:	n/a	n/a
16	BACH1	chr1:120480966-120480971	K562	blood:	n/a	n/a
17	BACH1	chr1:120566740-120567172	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr1:120528600-120528732	K562	blood:	n/a	n/a
19	BACH1	chr1:120510604-120510901	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr1:120586674-120586986	GM12878	blood:	n/a	n/a
21	BATF	chr1:120665653-120665859	GM12878	blood:	n/a	chr1:120665799-120665807
22	BATF	chr1:120692171-120692558	GM12878	blood:	n/a	n/a
23	BATF	chr1:120589375-120589701	GM12878	blood:	n/a	n/a
24	BATF	chr1:120587372-120588174	GM12878	blood:	n/a	n/a
25	BATF	chr1:120623707-120624030	GM12878	blood:	n/a	n/a
26	BATF	chr1:120611354-120611730	GM12878	blood:	n/a	n/a
27	BATF	chr1:120601400-120601657	GM12878	blood:	n/a	n/a
28	BATF	chr1:120664423-120664787	GM12878	blood:	n/a	n/a
29	BATF	chr1:120596954-120597150	GM12878	blood:	n/a	n/a
30	BATF	chr1:120543819-120544189	GM12878	blood:	n/a	n/a
31	BATF	chr1:120664789-120665384	GM12878	blood:	n/a	n/a
32	BATF	chr1:120587338-120588241	GM12878	blood:	n/a	n/a
33	BATF	chr1:120586664-120586958	GM12878	blood:	n/a	n/a
34	BATF	chr1:120608810-120609197	GM12878	blood:	n/a	n/a
35	BATF	chr1:120607492-120607681	GM12878	blood:	n/a	chr1:120607521-120607530
36	BATF	chr1:120685303-120685789	GM12878	blood:	n/a	n/a
37	BATF	chr1:120564856-120565259	GM12878	blood:	n/a	n/a
38	BATF	chr1:120611985-120612860	GM12878	blood:	n/a	chr1:120612243-120612251
39	BATF	chr1:120659836-120660635	GM12878	blood:	n/a	n/a
40	BATF	chr1:120543841-120544185	GM12878	blood:	n/a	n/a
41	BATF	chr1:120666351-120666651	GM12878	blood:	n/a	n/a
42	BATF	chr1:120607512-120607789	GM12878	blood:	n/a	chr1:120607521-120607530
43	BATF	chr1:120664375-120665407	GM12878	blood:	n/a	n/a
44	BATF	chr1:120608916-120609325	GM12878	blood:	n/a	n/a
45	BATF	chr1:120686713-120687012	GM12878	blood:	n/a	n/a
46	BATF	chr1:120610859-120611051	GM12878	blood:	n/a	n/a
47	BATF	chr1:120647892-120648169	GM12878	blood:	n/a	n/a
48	BATF	chr1:120630584-120630904	GM12878	blood:	n/a	n/a
49	BATF	chr1:120611088-120611280	GM12878	blood:	n/a	n/a
50	BATF	chr1:120586095-120586463	GM12878	blood:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120611593-120611643	ovcar-3	ovarian:	n/a
2	chr1:120530251-120530301	ovcar-3	ovarian:	n/a
3	chr1:120611593-120611643	ovcar-3	ovarian:	n/a
4	chr1:120530251-120530301	ovcar-3	ovarian:	n/a
5	chr1:120612147-120612197	AG10803	skin:	n/a
6	chr1:120530251-120530301	HRPEpiC	eye:	n/a
7	chr1:120611586-120611636	SK-N-SH_RA	brain:	n/a
8	chr1:120612217-120612267	ovcar-3	ovarian:	n/a
9	chr1:120611104-120611154	BE2_C	brain:	n/a
10	chr1:120612152-120612202	PrEC	prostate:	n/a
11	chr1:120612404-120612454	GM12891	blood:	n/a
12	chr1:120611593-120611643	PFSK-1	brain:	n/a
13	chr1:120612217-120612267	HCM	heart:	n/a
14	chr1:120613447-120613497	SK-N-MC	brain:	n/a
15	chr1:120508705-120508755	ovcar-3	ovarian:	n/a
16	chr1:120508705-120508755	U87	brain:	n/a
17	chr1:120530251-120530301	PANC-1	pancreas:	n/a
18	chr1:120490955-120491005	ovcar-3	ovarian:	n/a
19	chr1:120613447-120613497	SAEC	small airway:	n/a
20	chr1:120508705-120508755	SKMC	muscle:	n/a
21	chr1:120616221-120616271	HEK293	kidney:	embryo
22	chr1:120611593-120611643	NT2-D1	testis:	n/a
23	chr1:120611586-120611636	HL-60	blood:	n/a
24	chr1:120611586-120611636	GM12891	blood:	n/a
25	chr1:120490955-120491005	U87	brain:	n/a
26	chr1:120613447-120613497	NH-A	brain:	n/a
27	chr1:120616221-120616271	HMEC	breast:	n/a
28	chr1:120530251-120530301	A549	lung:	n/a
29	chr1:120611586-120611636	HCT-116	colon:	n/a
30	chr1:120612404-120612454	HIPEpiC	eye:	n/a
31	chr1:120611104-120611154	AG10803	skin:	n/a
32	chr1:120611593-120611643	AG09309	skin:	n/a
33	chr1:120612217-120612267	ECC-1	luminal epithelium:	n/a
34	chr1:120616221-120616271	Hela-S3	cervix:	n/a
35	chr1:120613447-120613497	MCF10A-Er-Src	breast:	n/a
36	chr1:120490955-120491005	HCM	heart:	n/a
37	chr1:120612404-120612454	AG09319	gingival:	n/a
38	chr1:120612152-120612202	HUVEC	blood vessel:	n/a
39	chr1:120530251-120530301	GM12891	blood:	n/a
40	chr1:120508705-120508755	SK-N-SH	brain:	n/a
41	chr1:120616221-120616271	AG04449	skin:	fetal
42	chr1:120611586-120611636	Hela-S3	cervix:	n/a
43	chr1:120530251-120530301	SK-N-MC	brain:	n/a
44	chr1:120611586-120611636	HMEC	breast:	n/a
45	chr1:120611593-120611643	LNCaP	prostate:	n/a
46	chr1:120611104-120611154	H1-hESC	embryonic stem cell:	embryo
47	chr1:120612147-120612197	GM19239	blood:	n/a
48	chr1:120611104-120611154	A549	lung:	n/a
49	chr1:120611586-120611636	ovcar-3	ovarian:	n/a
50	chr1:120611593-120611643	GM19239	blood:	n/a

(count:89 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:120606120..120607638-chr1:145207438..145208952,2	MCF-7	breast:
2	chr1:120485036..120488098-chr1:120488284..120491170,3	MCF-7	breast:
3	chr1:120480674..120483081-chr1:145098868..145100829,2	MCF-7	breast:
4	chr1:120491192..120492032-chr1:120500280..120501020,2	MCF-7	breast:
5	chr1:120519289..120523601-chr1:120528205..120531823,5	MCF-7	breast:
6	chr1:120688084..120688694-chr1:145126764..145127269,2	MCF-7	breast:
7	chr1:120478510..120480187-chr1:120484617..120486258,2	K562	blood:
8	chr1:120497342..120499963-chr1:120501229..120503818,2	K562	blood:
9	chr1:120473764..120474359-chr14:43517502..43518175,2	HCT-116	colon:
10	chr1:120491383..120493065-chr1:120495646..120497654,2	MCF-7	breast:
11	chr1:120610124..120613523-chr1:145208226..145211226,7	MCF-7	breast:
12	chr1:120529008..120531622-chr1:120534820..120537508,2	MCF-7	breast:
13	chr1:120561821..120563990-chr1:145256491..145258504,4	MCF-7	breast:
14	chr1:120514830..120518972-chr1:120519359..120523617,7	MCF-7	breast:
15	chr1:120611803..120612535-chr1:145208972..145209627,6	MCF-7	breast:
16	chr1:120478050..120480567-chr1:120483456..120486194,2	MCF-7	breast:
17	chr1:120467969..120469676-chr1:120469960..120472021,2	MCF-7	breast:
18	chr1:120447256..120450228-chr1:120525932..120527487,2	K562	blood:
19	chr1:120511011..120512571-chr1:120512648..120514859,2	MCF-7	breast:
20	chr1:120428266..120429110-chr1:120688084..120688752,2	MCF-7	breast:
21	chr1:120489487..120490275-chr1:230168563..230169480,2	MCF-7	breast:
22	chr1:120562393..120564845-chr1:145256114..145258582,3	MCF-7	breast:
23	chr1:120413136..120413983-chr1:120688071..120688676,2	MCF-7	breast:
24	chr1:120498300..120501120-chr1:120610765..120612567,2	MCF-7	breast:
25	chr1:120450368..120452473-chr1:120481049..120483944,2	K562	blood:
26	chr1:120574754..120575346-chr1:145245858..145246575,2	MCF-7	breast:
27	chr1:120411363..120413507-chr1:120488348..120490535,2	MCF-7	breast:
28	chr1:120505566..120508296-chr1:120511053..120512742,2	MCF-7	breast:
29	chr1:120515085..120518554-chr1:120518969..120522755,5	MCF-7	breast:
30	chr1:120517034..120520451-chr1:120523781..120527313,5	MCF-7	breast:
31	chr1:120506490..120508816-chr1:120511166..120513113,2	K562	blood:
32	chr1:120604407..120607124-chr1:149222293..149225022,2	MCF-7	breast:
33	chr1:120497371..120500644-chr1:120500886..120502756,3	MCF-7	breast:
34	chr1:120514830..120518972-chr1:120519359..120523617,7	MCF-7	breast:
35	chr1:120517034..120520451-chr1:120523781..120527313,5	MCF-7	breast:
36	chr1:120499139..120500697-chr1:120503771..120505843,2	K562	blood:
37	chr1:120691948..120694351-chr1:145121998..145123840,2	K562	blood:
38	chr1:120507613..120510077-chr1:120520488..120522532,2	MCF-7	breast:
39	chr1:120461834..120464698-chr1:120475865..120478415,2	MCF-7	breast:
40	chr1:120489170..120492877-chr1:120510169..120513121,3	K562	blood:
41	chr1:120555279..120557791-chr1:145264672..145267612,3	K562	blood:
42	chr1:120576520..120578439-chr1:145242059..145244929,2	MCF-7	breast:
43	chr1:120490968..120491810-chr1:120688066..120688661,3	MCF-7	breast:
44	chr1:120467969..120469676-chr1:120469960..120472021,2	MCF-7	breast:
45	chr1:120546817..120548727-chr1:145061120..145063157,2	MCF-7	breast:
46	chr1:120515082..120516747-chr1:120527754..120529288,2	MCF-7	breast:
47	chr1:120501693..120505181-chr1:120522270..120525046,3	MCF-7	breast:
48	chr1:120501693..120505181-chr1:120522270..120525046,3	MCF-7	breast:
49	chr1:120511011..120512571-chr1:120512648..120514859,2	MCF-7	breast:
50	chr1:120491192..120492032-chr1:120500280..120501020,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM72B-4	chr1:120637415-120638073	XLOC_000373
2	lnc-NOTCH2-4	chr1:120693320-120697146	ENSG00000273131.1
3	lnc-ADAM30-1	chr1:120531875-120534179	ENSG00000247433
4	lnc-FAM72B-9	chr1:120619223-120619698	ENSG00000273406.1
5	lnc-NOTCH2-2	chr1:120615908-120616134	XLOC_000986
6	lnc-FAM72B-8	chr1:120693320-120696076	NONHSAT005589
7	lnc-FAM72B-4	chr1:120612586-120612625	XLOC_000373
8	lnc-FAM72B-8	chr1:120696205-120697130	NONHSAT005589
9	lnc-NOTCH2-2	chr1:120617808-120619716	XLOC_000986
10	lnc-NOTCH2-3	chr1:120637309-120637563	expReg_chr1_13425_-

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	NOTCH2	hsa-miR-183-5p	chr1:120492972-120492993
2	NOTCH2	hsa-miR-181c-5p	chr1:120493045-120493066
3	NOTCH2	hsa-miR-181a-5p	chr1:120493045-120493066

Variant related genes	Relation type
RNU6-465P	TF binding region
ENSG00000273131	TF binding region
NOTCH2	TF binding region
ENSG00000273406	TF binding region
RNU6-465P	CpG island
ENSG00000273131	CpG island
NOTCH2	CpG island
ENSG00000273406	CpG island
ENSG00000215864	chromatin interactions
ENSG00000255168	chromatin interactions
ENSG00000226446	chromatin interactions
ENSG00000213240	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000134250	chromatin interactions
OGFRL1	miRNA target sites

Extended variants
information (count: 7347 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:7347 , 50 per page) page: 1 2 3 4 5 6 7 ... 147

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587711891	chr1:120469075-120469076	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17258579	chr1:120469077-120469078	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs118188023	chr1:120469122-120469123	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587728425	chr1:120469127-120469128	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587609362	chr1:120469132-120469133	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374438857	chr1:120469133-120469134	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34839305	chr1:120469141-120469142	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375142978	chr1:120469143-120469144	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61752484	chr1:120469147-120469148	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200697252	chr1:120469194-120469195	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367746128	chr1:120469209-120469210	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116408209	chr1:120469211-120469212	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587688280	chr1:120469214-120469215	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150035241	chr1:120469229-120469230	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371580595	chr1:120469232-120469233	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587740250	chr1:120469292-120469293	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201277745	chr1:120469389-120469390	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587619720	chr1:120469408-120469409	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115327177	chr1:120469532-120469533	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587773343	chr1:120469533-120469534	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587677241	chr1:120469534-120469535	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185528067	chr1:120469553-120469554	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373520675	chr1:120469563-120469564	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587775667	chr1:120469630-120469631	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189640356	chr1:120469675-120469676	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142290522	chr1:120469721-120469722	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs587593607	chr1:120469760-120469761	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587652514	chr1:120469786-120469787	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587710036	chr1:120469811-120469812	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377322647	chr1:120469816-120469817	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587608039	chr1:120469836-120469837	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370949000	chr1:120469837-120469838	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201234909	chr1:120469850-120469851	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587661424	chr1:120469859-120469860	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180683714	chr1:120469883-120469884	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185356589	chr1:120469892-120469893	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587659432	chr1:120469893-120469894	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74117505	chr1:120469983-120469984	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190112214	chr1:120470014-120470015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587702468	chr1:120470077-120470078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587758046	chr1:120470120-120470121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60090468	chr1:120470149-120470150	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs587653909	chr1:120470260-120470261	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs587704938	chr1:120470261-120470262	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587773862	chr1:120470289-120470290	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113896243	chr1:120470312-120470313	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76896471	chr1:120470314-120470315	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587753211	chr1:120470368-120470369	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12568073	chr1:120470375-120470376	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587645173	chr1:120470411-120470412	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Schizophrenia	21346763	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5682 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120448200-120471000	Weak transcription	Right Atrium	heart
2	chr1:120450000-120473000	Strong transcription	HSMM	muscle
3	chr1:120451600-120480000	Weak transcription	Psoas Muscle	Psoas
4	chr1:120452000-120485600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:120452600-120472800	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:120453000-120473200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:120453000-120476400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:120453000-120483600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:120453200-120475600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:120453400-120472600	Strong transcription	Osteobl	bone
11	chr1:120453400-120476400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:120454200-120469200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:120454400-120471600	Strong transcription	NH-A	brain
14	chr1:120454400-120472400	Strong transcription	NHDF-Ad	bronchial
15	chr1:120454400-120472600	Strong transcription	Primary B cells from cord blood	blood
16	chr1:120454800-120472800	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr1:120454800-120473200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:120455200-120472000	Strong transcription	Placenta	Placenta
19	chr1:120455400-120472200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:120455400-120472800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr1:120455400-120472800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:120455400-120472800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:120455400-120472800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:120455400-120475800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:120455600-120470000	Strong transcription	Esophagus	oesophagus
26	chr1:120455600-120472000	Strong transcription	Fetal Lung	lung
27	chr1:120455600-120472200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:120455600-120472600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:120455600-120472800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:120455600-120472800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr1:120455600-120473400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:120455600-120474000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:120455800-120472800	Strong transcription	NHLF	lung
34	chr1:120455800-120474200	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:120455800-120486800	Strong transcription	Liver	Liver
36	chr1:120456000-120469400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:120456000-120471200	Strong transcription	Fetal Kidney	kidney
38	chr1:120456000-120472600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:120456000-120472600	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr1:120456000-120472800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:120456000-120472800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:120456000-120472800	Strong transcription	Dnd41	blood
43	chr1:120456000-120473000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:120456200-120472400	Strong transcription	Rectal Smooth Muscle	rectum
45	chr1:120456200-120472600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr1:120456200-120472800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:120456200-120488000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:120456400-120472200	Strong transcription	Ovary	ovary
49	chr1:120456400-120472400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:120456400-120472600	Strong transcription	Primary T cells from cord blood	blood

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