Variant report

Variant	esv2756892
Chromosome Location	chr1:243036667-243280885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1744)
CpG islands
(count:1281)
Chromatin interactive
region (count:6)
LncRNA
region (count:59)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1744 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:243088083-243088303	K562	blood:	n/a	n/a
2	ARID3A	chr1:243265016-243265233	K562	blood:	n/a	n/a
3	ARID3A	chr1:243269320-243269342	K562	blood:	n/a	n/a
4	ATF1	chr1:243264723-243265401	K562	blood:	n/a	n/a
5	ATF1	chr1:243148543-243148578	K562	blood:	n/a	n/a
6	ATF1	chr1:243269266-243269450	K562	blood:	n/a	n/a
7	ATF1	chr1:243265917-243265988	K562	blood:	n/a	n/a
8	ATF2	chr1:243264845-243265326	GM12878	blood:	n/a	n/a
9	ATF3	chr1:243265013-243265180	GM12878	blood:	n/a	n/a
10	ATF3	chr1:243264834-243265328	K562	blood:	n/a	n/a
11	ATF3	chr1:243264891-243265281	K562	blood:	n/a	n/a
12	ATF3	chr1:243264822-243265305	K562	blood:	n/a	n/a
13	ATF3	chr1:243264888-243265345	GM12878	blood:	n/a	n/a
14	ATF3	chr1:243268452-243268665	K562	blood:	n/a	n/a
15	BACH1	chr1:243122482-243122506	K562	blood:	n/a	n/a
16	BATF	chr1:243178561-243178941	GM12878	blood:	n/a	n/a
17	BATF	chr1:243225252-243225590	GM12878	blood:	n/a	n/a
18	BATF	chr1:243178503-243178928	GM12878	blood:	n/a	n/a
19	BATF	chr1:243171378-243171664	GM12878	blood:	n/a	n/a
20	BATF	chr1:243264659-243265193	GM12878	blood:	n/a	n/a
21	BATF	chr1:243263835-243263995	GM12878	blood:	n/a	n/a
22	BATF	chr1:243225276-243225613	GM12878	blood:	n/a	n/a
23	BATF	chr1:243186903-243187203	GM12878	blood:	n/a	chr1:243187183-243187192
24	BATF	chr1:243182370-243182587	GM12878	blood:	n/a	n/a
25	BATF	chr1:243174180-243174389	GM12878	blood:	n/a	n/a
26	BATF	chr1:243186946-243187196	GM12878	blood:	n/a	chr1:243187183-243187192
27	BCL11A	chr1:243264570-243265004	GM12878	blood:	n/a	n/a
28	BCL11A	chr1:243171382-243171573	GM12878	blood:	n/a	n/a
29	BCL11A	chr1:243169760-243169972	GM12878	blood:	n/a	n/a
30	BCL11A	chr1:243186357-243186528	GM12878	blood:	n/a	n/a
31	BCL11A	chr1:243182297-243182573	GM12878	blood:	n/a	chr1:243182520-243182528 chr1:243182526-243182535
32	BCL11A	chr1:243172627-243172798	GM12878	blood:	n/a	n/a
33	BCL11A	chr1:243153505-243153675	GM12878	blood:	n/a	n/a
34	BCL11A	chr1:243178550-243178986	GM12878	blood:	n/a	chr1:243178799-243178808
35	BCL11A	chr1:243178625-243178904	GM12878	blood:	n/a	chr1:243178799-243178808
36	BCL11A	chr1:243174177-243174356	GM12878	blood:	n/a	n/a
37	BCL11A	chr1:243264959-243265161	GM12878	blood:	n/a	n/a
38	BCL11A	chr1:243189520-243189781	GM12878	blood:	n/a	n/a
39	BHLHE40	chr1:243186879-243187195	HepG2	liver:	n/a	n/a
40	BHLHE40	chr1:243264981-243265237	K562	blood:	n/a	n/a
41	BHLHE40	chr1:243269327-243269353	K562	blood:	n/a	n/a
42	BHLHE40	chr1:243265018-243265196	GM12878	blood:	n/a	n/a
43	BHLHE40	chr1:243087986-243088483	K562	blood:	n/a	n/a
44	BHLHE40	chr1:243277592-243277736	GM12878	blood:	n/a	n/a
45	BRCA1	chr1:243264957-243265297	GM12878	blood:	n/a	n/a
46	CBX3	chr1:243053418-243053739	K562	blood:	n/a	n/a
47	CBX3	chr1:243269004-243269834	K562	blood:	n/a	n/a
48	CBX3	chr1:243264771-243265405	K562	blood:	n/a	n/a
49	CBX3	chr1:243264952-243265371	HCT-116	colon:	n/a	n/a
50	CBX3	chr1:243100093-243100300	K562	blood:	n/a	n/a

(count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:243270834-243270884	CMK	blood:	n/a
2	chr1:243139525-243139575	CMK	blood:	n/a
3	chr1:243217776-243217826	ProgFib	skin:	n/a
4	chr1:243265317-243265367	Hepatocyte	liver:	n/a
5	chr1:243053425-243053475	U87	brain:	n/a
6	chr1:243265317-243265367	Caco-2	colon:	n/a
7	chr1:243057080-243057130	HEK293	kidney:	embryo
8	chr1:243264842-243264892	HNPCEpiC	eye:	n/a
9	chr1:243217947-243217997	HEEpiC	esophagus:	n/a
10	chr1:243139525-243139575	IMR90	lung:	fetal
11	chr1:243219082-243219132	MCF10A-Er-Src	breast:	n/a
12	chr1:243053425-243053475	MCF-7	breast:	n/a
13	chr1:243053425-243053475	HRPEpiC	eye:	n/a
14	chr1:243217947-243217997	HMEC	breast:	n/a
15	chr1:243263770-243263820	SK-N-SH_RA	brain:	n/a
16	chr1:243219082-243219132	HCM	heart:	n/a
17	chr1:243265317-243265367	LNCaP	prostate:	n/a
18	chr1:243263770-243263820	H1-hESC	embryonic stem cell:	embryo
19	chr1:243263770-243263820	HL-60	blood:	n/a
20	chr1:243263770-243263820	SK-N-MC	brain:	n/a
21	chr1:243138527-243138577	NHDF-neo	bronchial:	n/a
22	chr1:243057080-243057130	HAEpiC	amniotic membrane:	n/a
23	chr1:243139525-243139575	AG09319	gingival:	n/a
24	chr1:243139525-243139575	NHDF-neo	bronchial:	n/a
25	chr1:243263770-243263820	MCF10A-Er-Src	breast:	n/a
26	chr1:243266520-243266570	CMK	blood:	n/a
27	chr1:243053865-243053915	HepG2	liver:	n/a
28	chr1:243264842-243264892	Jurkat	blood:	n/a
29	chr1:243264842-243264892	H1-hESC	embryonic stem cell:	embryo
30	chr1:243266520-243266570	Hela-S3	cervix:	n/a
31	chr1:243138527-243138577	PFSK-1	brain:	n/a
32	chr1:243266520-243266570	NHBE	bronchial:	n/a
33	chr1:243263770-243263820	HCM	heart:	n/a
34	chr1:243270834-243270884	GM12892	blood:	n/a
35	chr1:243054071-243054121	GM19239	blood:	n/a
36	chr1:243138527-243138577	NHBE	bronchial:	n/a
37	chr1:243053425-243053475	MCF10A-Er-Src	breast:	n/a
38	chr1:243265317-243265367	SK-N-MC	brain:	n/a
39	chr1:243267966-243268016	T-47D	breast:	n/a
40	chr1:243265317-243265367	HAEpiC	amniotic membrane:	n/a
41	chr1:243139525-243139575	GM12878	blood:	n/a
42	chr1:243270834-243270884	HepG2	liver:	n/a
43	chr1:243217947-243217997	SK-N-MC	brain:	n/a
44	chr1:243219047-243219097	HNPCEpiC	eye:	n/a
45	chr1:243265016-243265066	HEEpiC	esophagus:	n/a
46	chr1:243267966-243268016	SKMC	muscle:	n/a
47	chr1:243050875-243050925	H1-hESC	embryonic stem cell:	embryo
48	chr1:243054071-243054121	NH-A	brain:	n/a
49	chr1:243219047-243219097	ovcar-3	ovarian:	n/a
50	chr1:243219082-243219132	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:242991254..242992220-chr1:243099841..243100636,3	MCF-7	breast:
2	chr1:243080510..243082193-chr1:243083721..243085385,2	K562	blood:
3	chr1:243278397..243280968-chr1:243284785..243287288,2	K562	blood:
4	chr1:243174257..243175773-chr22:20004723..20006804,2	K562	blood:
5	chr1:243028922..243031643-chr1:243036505..243039074,2	K562	blood:
6	chr1:243080510..243082193-chr1:243083721..243085385,2	K562	blood:

(count:59 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEP170-1	chr1:243254768-243254898	ENSG00000214837.3
2	lnc-CEP170-1	chr1:243220533-243220572	ENSG00000214837.3
3	lnc-CEP170-3	chr1:243170676-243170770	XLOC_001282
4	lnc-CEP170-7	chr1:243078426-243078834	expReg_chr1_22680_-
5	lnc-CEP170-2	chr1:243192814-243193218	ENSG00000231512
6	lnc-CEP170-1	chr1:243255781-243255860	ENSG00000214837.3
7	lnc-CEP170-1	chr1:243222780-243222970	NONHSAT010586
8	lnc-CEP170-1	chr1:243220666-243221149	ENSG00000214837.3
9	lnc-CEP170-9	chr1:243076529-243076866	refGeneNc_994_NR_026778
10	lnc-CEP170-9	chr1:243076807-243077141	expReg_chr1_22678_-
11	lnc-CEP170-8	chr1:243077153-243077520	expReg_chr1_22679_-
12	lnc-CEP170-1	chr1:243220666-243220723	NONHSAT010586
13	lnc-CEP170-3	chr1:243169714-243169980	XLOC_001282
14	lnc-CEP170-2	chr1:243211014-243211171	ENSG00000231512
15	lnc-CEP170-1	chr1:243230927-243231043	NONHSAT010586
16	lnc-CEP170-1	chr1:243220666-243220723	ENSG00000214837.3
17	lnc-CEP170-1	chr1:243232883-243233006	NONHSAT010586
18	lnc-CEP170-3	chr1:243169147-243169576	XLOC_001282
19	lnc-CEP170-1	chr1:243222780-243222970	ENSG00000214837.3
20	lnc-CEP170-1	chr1:243229478-243229543	ENSG00000214837.3
21	lnc-CEP170-1	chr1:243251337-243251534	ENSG00000214837.3
22	lnc-CEP170-2	chr1:243211014-243211177	ENSG00000231512
23	lnc-CEP170-9	chr1:243070564-243075269	refGeneNc_994_NR_026778
24	lnc-CEP170-1	chr1:243232883-243233006	ENSG00000214837.3
25	lnc-CEP170-1	chr1:243220666-243220723	ENSG00000214837.3
26	lnc-CEP170-1	chr1:243229479-243229543	ENSG00000214837.3
27	lnc-CEP170-2	chr1:243194574-243194678	ENSG00000231512
28	lnc-CEP170-1	chr1:243220951-243221150	ENSG00000214837.3
29	lnc-CEP170-1	chr1:243230382-243230589	NONHSAT010586
30	lnc-CEP170-1	chr1:243230382-243230589	ENSG00000214837.3
31	lnc-CEP170-1	chr1:243259293-243259424	ENSG00000214837.3
32	lnc-CEP170-2	chr1:243202216-243202794	ENSG00000231512
33	lnc-CEP170-1	chr1:243220178-243220301	ENSG00000214837.3
34	lnc-CEP170-1	chr1:243230115-243230172	ENSG00000214837.3
35	lnc-CEP170-1	chr1:243220495-243220572	ENSG00000214837.3
36	lnc-CEP170-1	chr1:243255781-243255892	ENSG00000214837.3
37	lnc-CEP170-1	chr1:243252623-243252681	ENSG00000214837.3
38	lnc-CEP170-1	chr1:243245192-243245427	ENSG00000214837.3
39	lnc-CEP170-1	chr1:243220314-243220381	ENSG00000214837.3
40	lnc-CEP170-2	chr1:243202583-243202794	ENSG00000231512
41	lnc-CEP170-1	chr1:243242159-243242354	ENSG00000214837.3
42	lnc-CEP170-2	chr1:243211747-243211826	ENSG00000231512
43	lnc-CEP170-1	chr1:243220495-243220572	NONHSAT010586
44	lnc-CEP170-1	chr1:243252623-243252681	ENSG00000214837.3
45	lnc-CEP170-1	chr1:243242290-243242354	ENSG00000214837.3
46	lnc-CEP170-2	chr1:243194574-243194678	ENSG00000231512
47	lnc-CEP170-1	chr1:243229479-243229543	NONHSAT010586
48	lnc-CEP170-1	chr1:243255343-243255496	ENSG00000214837.3
49	lnc-CEP170-1	chr1:243239872-243239934	ENSG00000214837.3
50	lnc-CEP170-1	chr1:243245192-243245427	ENSG00000214837.3

No data

Variant related genes	Relation type
ENSG00000231512	TF binding region
RNU6-747P	TF binding region
ENSG00000214837	TF binding region
ENSG00000253326	TF binding region
ENSG00000234116	TF binding region
ENSG00000230199	TF binding region
ENSG00000270818	TF binding region
ENSG00000264972	TF binding region
ENSG00000231512	CpG island
RNU6-747P	CpG island
ENSG00000214837	CpG island
ENSG00000253326	CpG island
ENSG00000234116	CpG island
ENSG00000230199	CpG island
ENSG00000270818	CpG island
ENSG00000264972	CpG island
LEFTY2	miRNA target sites
LEPREL4	miRNA target sites

Extended variants
information (count: 3358 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3358 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6679275	chr1:243036667-243036668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562369205	chr1:243036671-243036672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201925284	chr1:243036722-243036723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139842528	chr1:243036783-243036784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557531364	chr1:243036787-243036788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74496192	chr1:243036788-243036789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12027916	chr1:243036800-243036801	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188682501	chr1:243036832-243036833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559117218	chr1:243036848-243036849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149863453	chr1:243036862-243036863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574422041	chr1:243036920-243036921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543322648	chr1:243036938-243036939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191740186	chr1:243037001-243037002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573112658	chr1:243037066-243037067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545487141	chr1:243037093-243037094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145864563	chr1:243037118-243037119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527374085	chr1:243037181-243037182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530899504	chr1:243037279-243037280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182825912	chr1:243037329-243037330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563119292	chr1:243037342-243037343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529175039	chr1:243037345-243037346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548973971	chr1:243037352-243037353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76175969	chr1:243037411-243037412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528031461	chr1:243037422-243037423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551354209	chr1:243037466-243037467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571406861	chr1:243037471-243037472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551959720	chr1:243037520-243037521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557617802	chr1:243037549-243037550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187859835	chr1:243037550-243037551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565346248	chr1:243037558-243037559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536954508	chr1:243037573-243037574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141156323	chr1:243037607-243037608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34828678	chr1:243037705-243037706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573479169	chr1:243037712-243037713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545110731	chr1:243037810-243037811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12028909	chr1:243037827-243037828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10926900	chr1:243037839-243037840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112845743	chr1:243037841-243037842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192380314	chr1:243037849-243037850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544268816	chr1:243037853-243037854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145012754	chr1:243037915-243037916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537769872	chr1:243037939-243037940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397863099	chr1:243037984-243037985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397860402	chr1:243037985-243037986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397983561	chr1:243038007-243038008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367728380	chr1:243038009-243038010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529014977	chr1:243038019-243038020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556388653	chr1:243038085-243038086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542913932	chr1:243038112-243038113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559437629	chr1:243038129-243038130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:243033200-243042200	Enhancers	Fetal Heart	heart
2	chr1:243036400-243036800	Enhancers	Left Ventricle	heart
3	chr1:243036800-243039200	Weak transcription	Left Ventricle	heart
4	chr1:243038200-243039600	Enhancers	A549	lung
5	chr1:243039200-243042200	Enhancers	Left Ventricle	heart
6	chr1:243039400-243039600	Enhancers	Right Atrium	heart
7	chr1:243039600-243040000	Weak transcription	A549	lung
8	chr1:243039600-243040600	Weak transcription	Right Atrium	heart
9	chr1:243040000-243041400	Enhancers	A549	lung
10	chr1:243040200-243041000	Enhancers	Pancreas	Pancrea
11	chr1:243040200-243041400	Enhancers	K562	blood
12	chr1:243040600-243041000	Enhancers	Right Atrium	heart
13	chr1:243040600-243041000	Enhancers	Right Ventricle	heart
14	chr1:243040800-243041000	Bivalent Enhancer	Hela-S3	cervix
15	chr1:243040800-243042200	Enhancers	Liver	Liver
16	chr1:243041000-243043800	Weak transcription	Right Atrium	heart
17	chr1:243041000-243046600	Weak transcription	Pancreas	Pancrea
18	chr1:243041800-243042200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:243042000-243042600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:243042200-243044400	Weak transcription	Fetal Heart	heart
21	chr1:243044400-243045400	Enhancers	Fetal Heart	heart
22	chr1:243046600-243046800	Enhancers	Pancreas	Pancrea
23	chr1:243046800-243053600	Weak transcription	Pancreas	Pancrea
24	chr1:243047200-243049000	Weak transcription	A549	lung
25	chr1:243049000-243049200	Enhancers	A549	lung
26	chr1:243049200-243049800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:243049200-243049800	Enhancers	Liver	Liver
28	chr1:243049200-243049800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:243049200-243049800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr1:243049200-243049800	Flanking Active TSS	A549	lung
31	chr1:243049200-243049800	Enhancers	HepG2	liver
32	chr1:243049600-243049800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:243049800-243050600	Enhancers	A549	lung
34	chr1:243049800-243053600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:243049800-243053600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:243050600-243051800	Weak transcription	A549	lung
37	chr1:243053400-243053600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:243053600-243053800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:243053600-243054000	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr1:243053600-243054000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr1:243053600-243054000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:243053600-243054000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:243053600-243054000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:243053600-243054000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:243053600-243054000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:243053600-243054000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:243053600-243054000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:243053600-243054000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:243053600-243054000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:243053600-243054000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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