Variant report

Variant	esv1797766
Chromosome Location	chr2:112010847-112380095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4423)
CpG islands
(count:366)
Chromatin interactive
region (count:21)
LncRNA
region (count:84)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:4423 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:112077982-112078035	K562	blood:	n/a	n/a
2	ARID3A	chr2:112374864-112376031	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:112377103-112377411	K562	blood:	n/a	n/a
4	ARID3A	chr2:112165582-112165606	K562	blood:	n/a	n/a
5	ARID3A	chr2:112221794-112221988	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:112286629-112286892	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:112279969-112280556	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:112142989-112143245	K562	blood:	n/a	n/a
9	ARID3A	chr2:112078700-112078866	K562	blood:	n/a	n/a
10	ARID3A	chr2:112376535-112377049	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:112191601-112191749	K562	blood:	n/a	n/a
12	ARID3A	chr2:112134733-112134923	HepG2	liver:	n/a	n/a
13	ATF1	chr2:112139588-112139732	K562	blood:	n/a	n/a
14	ATF1	chr2:112174751-112174909	K562	blood:	n/a	n/a
15	ATF1	chr2:112251003-112251203	K562	blood:	n/a	n/a
16	ATF1	chr2:112191568-112191846	K562	blood:	n/a	n/a
17	ATF1	chr2:112104247-112104437	K562	blood:	n/a	n/a
18	ATF1	chr2:112174026-112174226	K562	blood:	n/a	n/a
19	ATF1	chr2:112252616-112252812	K562	blood:	n/a	n/a
20	ATF1	chr2:112165410-112165614	K562	blood:	n/a	n/a
21	ATF1	chr2:112123600-112123901	K562	blood:	n/a	n/a
22	ATF2	chr2:112236677-112236938	GM12878	blood:	n/a	n/a
23	ATF2	chr2:112183348-112183699	GM12878	blood:	n/a	n/a
24	ATF2	chr2:112183361-112183645	GM12878	blood:	n/a	n/a
25	ATF3	chr2:112292952-112293475	HepG2	liver:	n/a	chr2:112293252-112293272 chr2:112293263-112293272
26	BACH1	chr2:112251425-112251440	K562	blood:	n/a	n/a
27	BACH1	chr2:112143146-112143417	K562	blood:	n/a	n/a
28	BACH1	chr2:112078641-112078944	K562	blood:	n/a	chr2:112078792-112078806
29	BACH1	chr2:112078561-112079019	H1-hESC	embryonic stem cell:	n/a	chr2:112078792-112078806
30	BATF	chr2:112221408-112221914	GM12878	blood:	n/a	n/a
31	BATF	chr2:112211976-112212278	GM12878	blood:	n/a	n/a
32	BATF	chr2:112183252-112183819	GM12878	blood:	n/a	n/a
33	BATF	chr2:112193854-112194550	GM12878	blood:	n/a	chr2:112194264-112194272
34	BATF	chr2:112221520-112221892	GM12878	blood:	n/a	n/a
35	BATF	chr2:112158868-112159229	GM12878	blood:	n/a	chr2:112159209-112159219
36	BATF	chr2:112258184-112258454	GM12878	blood:	n/a	n/a
37	BATF	chr2:112238764-112238956	GM12878	blood:	n/a	n/a
38	BATF	chr2:112240605-112241034	GM12878	blood:	n/a	chr2:112240788-112240798
39	BATF	chr2:112220893-112221142	GM12878	blood:	n/a	n/a
40	BATF	chr2:112077128-112077551	GM12878	blood:	n/a	n/a
41	BATF	chr2:112198041-112198360	GM12878	blood:	n/a	n/a
42	BATF	chr2:112303348-112304091	GM12878	blood:	n/a	chr2:112303735-112303744
43	BATF	chr2:112285351-112285619	GM12878	blood:	n/a	n/a
44	BATF	chr2:112183233-112184090	GM12878	blood:	n/a	n/a
45	BATF	chr2:112195688-112196162	GM12878	blood:	n/a	n/a
46	BATF	chr2:112327786-112328223	GM12878	blood:	n/a	n/a
47	BATF	chr2:112169777-112169962	GM12878	blood:	n/a	chr2:112169903-112169914
48	BATF	chr2:112072847-112073098	GM12878	blood:	n/a	chr2:112073011-112073022 chr2:112072925-112072935
49	BATF	chr2:112049833-112050062	GM12878	blood:	n/a	n/a
50	BATF	chr2:112209629-112210364	GM12878	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:112375854-112375904	HUVEC	blood vessel:	n/a
2	chr2:112124118-112124168	HCF	heart:	n/a
3	chr2:112124380-112124430	U87	brain:	n/a
4	chr2:112280286-112280336	HUVEC	blood vessel:	n/a
5	chr2:112252254-112252304	AG10803	skin:	n/a
6	chr2:112252254-112252304	U87	brain:	n/a
7	chr2:112375854-112375904	HepG2	liver:	n/a
8	chr2:112293267-112293317	GM06990	blood:	n/a
9	chr2:112124118-112124168	GM12891	blood:	n/a
10	chr2:112293267-112293317	HL-60	blood:	n/a
11	chr2:112252254-112252304	MCF-7	breast:	n/a
12	chr2:112124118-112124168	PrEC	prostate:	n/a
13	chr2:112252254-112252304	HEK293	kidney:	embryo
14	chr2:112124118-112124168	HRCEpiC	kidney:	n/a
15	chr2:112124118-112124168	K562	blood:	n/a
16	chr2:112375854-112375904	PANC-1	pancreas:	n/a
17	chr2:112252254-112252304	Hepatocyte	liver:	n/a
18	chr2:112280286-112280336	AG10803	skin:	n/a
19	chr2:112124380-112124430	HIPEpiC	eye:	n/a
20	chr2:112280286-112280336	Hela-S3	cervix:	n/a
21	chr2:112252254-112252304	AG09319	gingival:	n/a
22	chr2:112293267-112293317	GM12891	blood:	n/a
23	chr2:112252254-112252304	GM06990	blood:	n/a
24	chr2:112124118-112124168	GM06990	blood:	n/a
25	chr2:112280286-112280336	HCM	heart:	n/a
26	chr2:112280286-112280336	PFSK-1	brain:	n/a
27	chr2:112124118-112124168	AG04450	lung:	fetal
28	chr2:112375854-112375904	AG09309	skin:	n/a
29	chr2:112293267-112293317	GM12892	blood:	n/a
30	chr2:112124380-112124430	PANC-1	pancreas:	n/a
31	chr2:112124118-112124168	GM12892	blood:	n/a
32	chr2:112375854-112375904	U87	brain:	n/a
33	chr2:112280286-112280336	HNPCEpiC	eye:	n/a
34	chr2:112124380-112124430	HCM	heart:	n/a
35	chr2:112280286-112280336	HRCEpiC	kidney:	n/a
36	chr2:112252254-112252304	MCF10A-Er-Src	breast:	n/a
37	chr2:112124380-112124430	NH-A	brain:	n/a
38	chr2:112124380-112124430	HCPEpiC	choroid plexus:	n/a
39	chr2:112280286-112280336	SK-N-MC	brain:	n/a
40	chr2:112280286-112280336	GM12878	blood:	n/a
41	chr2:112375854-112375904	NHBE	bronchial:	n/a
42	chr2:112293267-112293317	AG04449	skin:	fetal
43	chr2:112124118-112124168	HEEpiC	esophagus:	n/a
44	chr2:112375854-112375904	HRCEpiC	kidney:	n/a
45	chr2:112280286-112280336	CMK	blood:	n/a
46	chr2:112124380-112124430	Hela-S3	cervix:	n/a
47	chr2:112252254-112252304	ECC-1	luminal epithelium:	n/a
48	chr2:112124380-112124430	IMR90	lung:	fetal
49	chr2:112124380-112124430	SK-N-SH_RA	brain:	n/a
50	chr2:112293267-112293317	HAEpiC	amniotic membrane:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:112376815..112377394-chr2:112421087..112421873,3	MCF-7	breast:
2	chr2:112374742..112377562-chr2:112458693..112461036,2	MCF-7	breast:
3	chr1:144533941..144534634-chr2:112378543..112379544,3	HCT-116	colon:
4	chr2:112158086..112161064-chr8:43095226..43096729,2	MCF-7	breast:
5	chr2:111877393..111879713-chr2:112235053..112237981,2	K562	blood:
6	chr2:112375556..112378419-chr2:112378851..112380695,2	MCF-7	breast:
7	chr2:112239413..112241217-chr2:112461159..112463413,2	MCF-7	breast:
8	chr2:112377013..112378994-chr2:112455600..112458086,2	K562	blood:
9	chr2:111878764..111880387-chr2:112231090..112233888,2	MCF-7	breast:
10	chr2:112376861..112378670-chr2:112458387..112460460,2	K562	blood:
11	chr2:112374024..112376697-chr2:112377578..112380485,2	K562	blood:
12	chr2:112374717..112376877-chr2:112415569..112417178,2	MCF-7	breast:
13	chr2:112374024..112376697-chr2:112377578..112380485,2	K562	blood:
14	chr2:112377497..112380123-chr2:112459340..112461483,2	MCF-7	breast:
15	chr2:111877705..111880008-chr2:112211679..112213711,2	MCF-7	breast:
16	chr2:112376832..112377622-chr2:112493675..112494396,3	MCF-7	breast:
17	chr2:111878316..111879893-chr2:112101721..112103928,2	MCF-7	breast:
18	chr2:112377428..112379190-chr2:112425946..112427813,2	MCF-7	breast:
19	chr2:112375556..112378419-chr2:112378851..112380695,2	MCF-7	breast:
20	chr2:112376956..112377705-chr2:112424491..112425897,3	MCF-7	breast:
21	chr2:111879395..111881005-chr2:112073345..112075122,2	MCF-7	breast:

(count:84 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL2L11-2	chr2:112022860-112023040	XLOC_001624
2	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
3	lnc-MERTK-1	chr2:112365418-112365592	XLOC_001626
4	lnc-AC108463.1-3	chr2:112186891-112187197	ENSG00000172965.6
5	lnc-BCL2L11-5	chr2:112085950-112086566	NONHSAT073637
6	lnc-AC108463.1-3	chr2:112186891-112187197	ENSG00000172965.6
7	lnc-BCL2L11-3	chr2:112248850-112249239	XLOC_001625
8	lnc-AC108463.1-3	chr2:112227095-112227564	ENSG00000172965.6
9	lnc-AC108463.1-3	chr2:112125088-112125152	NONHSAT073639
10	lnc-AC108463.1-3	chr2:112237746-112237838	ENSG00000172965.6
11	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
12	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
13	lnc-AC108463.1-3	chr2:112187048-112187197	NONHSAT073639
14	lnc-AC108463.1-3	chr2:112237746-112237838	ENSG00000172965.6
15	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.10
16	lnc-AC108463.1-3	chr2:112252462-112252610	ENSG00000172965.6
17	lnc-AC108463.1-3	chr2:112252462-112252540	NONHSAT073639
18	lnc-AC108463.1-3	chr2:112252462-112252692	NONHSAT073640
19	lnc-AC108463.1-3	chr2:112101638-112101675	ENSG00000172965.10
20	lnc-AC108463.1-3	chr2:112187020-112187197	ENSG00000172965.6
21	lnc-AC108463.1-3	chr2:112252462-112252597	ENSG00000172965.6
22	lnc-AC108463.1-6	chr2:112053206-112053623	NONHSAT073635
23	lnc-AC108463.1-3	chr2:112229566-112229674	ENSG00000172965.6
24	lnc-AC108463.1-3	chr2:112101668-112101814	ENSG00000172965.6
25	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
26	lnc-AC108463.1-3	chr2:112229566-112229674	ENSG00000172965.6
27	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
28	lnc-AC108463.1-3	chr2:112124591-112125152	NONHSAT073640
29	lnc-BCL2L11-6	chr2:112080919-112081327	NONHSAT073618
30	lnc-BCL2L11-3	chr2:112268201-112268567	XLOC_001625
31	lnc-AC108463.1-4	chr2:112024445-112025050	ENSG00000270190.1
32	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
33	lnc-AC108463.1-3	chr2:112227215-112227564	ENSG00000172965.6
34	lnc-AC108463.1-3	chr2:112237484-112237657	NONHSAT073639
35	lnc-AC108463.1-3	chr2:112227364-112227376	NONHSAT073639
36	lnc-AC108463.1-3	chr2:112199085-112199198	ENSG00000172965.6
37	lnc-AC108463.1-3	chr2:112125064-112125152	NONHSAT073622
38	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
39	lnc-AC108463.1-3	chr2:112101638-112101814	NONHSAT073622
40	lnc-BCL2L11-5	chr2:112085950-112086268	l_1923_chr2:112081839-112086268_testes
41	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
42	lnc-ANAPC1-3	chr2:112315990-112317514	NONHSAT073659
43	lnc-BCL2L11-6	chr2:112060981-112061323	NONHSAT073618
44	lnc-AC108463.1-3	chr2:112252462-112252692	NONHSAT073642
45	lnc-MERTK-1	chr2:112369479-112369982	NONHSAT073660
46	lnc-BCL2L11-2	chr2:112037022-112037457	XLOC_001624
47	lnc-AC108463.1-3	chr2:112237484-112237638	ENSG00000172965.6
48	lnc-BCL2L11-5	chr2:112081840-112081972	l_1923_chr2:112081839-112086268_testes
49	lnc-AC108463.1-3	chr2:112101638-112101701	NONHSAT073620
50	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4435	chr2:112078638-112078659	MIMAT0018951_1

No data

Variant related genes	Relation type
ENSG00000270190	TF binding region
ENSG00000240350	TF binding region
ENSG00000224959	TF binding region
ENSG00000225744	TF binding region
RPS14P4	TF binding region
MIR4435-1HG	TF binding region
ENSG00000229118	TF binding region
ENSG00000271635	TF binding region
ENSG00000223973	TF binding region
MIR4435-1	TF binding region
ENSG00000270190	CpG island
ENSG00000240350	CpG island
ENSG00000224959	CpG island
ENSG00000225744	CpG island
RPS14P4	CpG island
MIR4435-1HG	CpG island
ENSG00000229118	CpG island
ENSG00000271635	CpG island
ENSG00000223973	CpG island
MIR4435-1	CpG island
ENSG00000201699	chromatin interactions
ENSG00000153094	chromatin interactions
ASCC3	miRNA target sites
ITSN2	miRNA target sites
KLHL24	miRNA target sites

Extended variants
information (count: 9191 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:9191 , 50 per page) page: 1 2 3 4 5 6 7 ... 184

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200635968	chr2:112010874-112010875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201699143	chr2:112010880-112010881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533036839	chr2:112010901-112010902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546425084	chr2:112010953-112010954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566541916	chr2:112010982-112010983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529438683	chr2:112011008-112011009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199951009	chr2:112011035-112011036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541660065	chr2:112011067-112011068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569296418	chr2:112011187-112011188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537871308	chr2:112011351-112011352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551775655	chr2:112011353-112011354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559333782	chr2:112011368-112011369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572002195	chr2:112011408-112011409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534484633	chr2:112011457-112011458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554452610	chr2:112011480-112011481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574154783	chr2:112011579-112011580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561540280	chr2:112011625-112011626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536813324	chr2:112011650-112011651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200768397	chr2:112011671-112011672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570021542	chr2:112011685-112011686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147047774	chr2:112011686-112011687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575271204	chr2:112011690-112011691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543834266	chr2:112011691-112011692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201003779	chr2:112011714-112011715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563724077	chr2:112011739-112011740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577558643	chr2:112011761-112011762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4627575	chr2:112011773-112011774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540135647	chr2:112011785-112011786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560350897	chr2:112011816-112011817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529090049	chr2:112011845-112011846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142485080	chr2:112011899-112011900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562867456	chr2:112011919-112011920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181675355	chr2:112011935-112011936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551838981	chr2:112012003-112012004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571663910	chr2:112012047-112012048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534135347	chr2:112012061-112012062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62160423	chr2:112012118-112012119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548118925	chr2:112012176-112012177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141565958	chr2:112012292-112012293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55767262	chr2:112012312-112012313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536468500	chr2:112012325-112012326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77348742	chr2:112012338-112012339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575280025	chr2:112012396-112012397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541125933	chr2:112012420-112012421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148874165	chr2:112012429-112012430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577223644	chr2:112012486-112012487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371554698	chr2:112012506-112012507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560206653	chr2:112012593-112012594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186475034	chr2:112012614-112012615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376101187	chr2:112012635-112012636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Breast cancer	22314128	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:3120 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111977600-112011400	Weak transcription	A549	lung
2	chr2:112005600-112015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:112006200-112020200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:112006400-112011600	Weak transcription	NH-A	brain
5	chr2:112006800-112011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:112008400-112012200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:112008600-112048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:112009200-112022600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:112010200-112015400	Weak transcription	HMEC	breast
10	chr2:112010600-112024600	Weak transcription	HSMMtube	muscle
11	chr2:112015400-112016600	Enhancers	HMEC	breast
12	chr2:112015800-112016000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:112016000-112016400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:112016000-112016400	Enhancers	NHEK	skin
15	chr2:112016200-112016600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:112016400-112016600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:112016600-112029000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:112019000-112019200	Enhancers	Ovary	ovary
19	chr2:112019200-112024200	Weak transcription	Ovary	ovary
20	chr2:112019200-112032600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:112020200-112020600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:112020200-112020600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:112020200-112020600	Enhancers	Fetal Stomach	stomach
24	chr2:112020200-112020600	Enhancers	NHLF	lung
25	chr2:112020400-112020600	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:112020400-112020600	Enhancers	Lung	lung
27	chr2:112020600-112021800	Weak transcription	NHLF	lung
28	chr2:112020600-112024200	Weak transcription	Lung	lung
29	chr2:112020600-112024600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:112020600-112048000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:112022000-112022200	Enhancers	NHLF	lung
32	chr2:112022400-112022600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:112022600-112022800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:112022600-112023000	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:112022600-112023400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:112022800-112031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:112023400-112046400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:112024000-112024400	Enhancers	Right Ventricle	heart
39	chr2:112024200-112025000	Enhancers	Lung	lung
40	chr2:112024200-112025200	Enhancers	Fetal Lung	lung
41	chr2:112024200-112025200	Enhancers	Ovary	ovary
42	chr2:112024200-112025200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:112024200-112025200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:112024200-112025400	Enhancers	Pancreas	Pancrea
45	chr2:112024200-112025600	Enhancers	Liver	Liver
46	chr2:112024200-112025600	Enhancers	Fetal Heart	heart
47	chr2:112024400-112025400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:112024600-112024800	Enhancers	HSMMtube	muscle
49	chr2:112024600-112025000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:112024600-112025000	Enhancers	Gastric	stomach

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