Variant report

Variant	nsv1001667
Chromosome Location	chr1:62407786-62649838
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	ARID3A	chr1:62548461-62548814	K562	blood:	n/a	n/a
2	ARID3A	chr1:62641191-62641580	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:62548468-62548749	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:62407480-62407847	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:62601544-62601684	HepG2	liver:	n/a	n/a
6	ATF1	chr1:62548437-62548742	K562	blood:	n/a	n/a
7	ATF1	chr1:62542038-62542336	K562	blood:	n/a	n/a
8	ATF2	chr1:62642519-62643026	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr1:62642428-62643041	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr1:62417577-62418091	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr1:62587863-62588301	GM12878	blood:	n/a	n/a
12	ATF3	chr1:62433476-62433726	K562	blood:	n/a	n/a
13	BACH1	chr1:62417538-62418004	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr1:62511188-62511566	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr1:62596831-62597090	K562	blood:	n/a	n/a
16	BACH1	chr1:62446282-62446790	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr1:62641305-62641504	K562	blood:	n/a	n/a
18	BACH1	chr1:62446381-62446560	K562	blood:	n/a	n/a
19	BATF	chr1:62587955-62588174	GM12878	blood:	n/a	chr1:62588072-62588083
20	BATF	chr1:62625827-62626008	GM12878	blood:	n/a	chr1:62625902-62625910
21	BATF	chr1:62587899-62588204	GM12878	blood:	n/a	chr1:62588072-62588083
22	BCL11A	chr1:62524686-62524887	H1-hESC	embryonic stem cell:	n/a	chr1:62524840-62524849 chr1:62524837-62524846
23	BCL11A	chr1:62647325-62647481	H1-hESC	embryonic stem cell:	n/a	n/a
24	BCLAF1	chr1:62625608-62625958	GM12878	blood:	n/a	n/a
25	BCLAF1	chr1:62587840-62588269	GM12878	blood:	n/a	chr1:62588076-62588085 chr1:62588075-62588084
26	BHLHE40	chr1:62437864-62437982	K562	blood:	n/a	n/a
27	BHLHE40	chr1:62548575-62548576	K562	blood:	n/a	n/a
28	BHLHE40	chr1:62549947-62550305	K562	blood:	n/a	n/a
29	BRCA1	chr1:62555359-62555453	H1-hESC	embryonic stem cell:	n/a	n/a
30	CBX3	chr1:62494512-62494873	HCT-116	colon:	n/a	n/a
31	CEBPB	chr1:62504283-62504575	H1-hESC	embryonic stem cell:	n/a	chr1:62504438-62504449 chr1:62504439-62504450 chr1:62504440-62504449 chr1:62504440-62504449 chr1:62504438-62504451 chr1:62504440-62504449 chr1:62504440-62504449
32	CEBPB	chr1:62418881-62419230	IMR90	lung:	n/a	n/a
33	CEBPB	chr1:62446295-62446907	K562	blood:	n/a	chr1:62446734-62446745 chr1:62446733-62446746 chr1:62446733-62446746
34	CEBPB	chr1:62504013-62504630	A549	lung:	n/a	chr1:62504438-62504449 chr1:62504439-62504450 chr1:62504440-62504449 chr1:62504440-62504449 chr1:62504438-62504451 chr1:62504440-62504449 chr1:62504170-62504179 chr1:62504168-62504179 chr1:62504168-62504181 chr1:62504440-62504449
35	CEBPB	chr1:62504120-62504618	K562	blood:	n/a	chr1:62504438-62504449 chr1:62504439-62504450 chr1:62504440-62504449 chr1:62504440-62504449 chr1:62504438-62504451 chr1:62504440-62504449 chr1:62504170-62504179 chr1:62504168-62504179 chr1:62504168-62504181 chr1:62504440-62504449
36	CEBPB	chr1:62638999-62639151	HepG2	liver:	n/a	chr1:62639085-62639096
37	CEBPB	chr1:62603698-62604039	A549	lung:	n/a	chr1:62603874-62603885
38	CEBPB	chr1:62446324-62446874	H1-hESC	embryonic stem cell:	n/a	chr1:62446734-62446745 chr1:62446733-62446746 chr1:62446733-62446746
39	CEBPB	chr1:62440045-62440224	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr1:62504024-62504636	IMR90	lung:	n/a	chr1:62504438-62504449 chr1:62504439-62504450 chr1:62504440-62504449 chr1:62504440-62504449 chr1:62504438-62504451 chr1:62504440-62504449 chr1:62504170-62504179 chr1:62504168-62504179 chr1:62504168-62504181 chr1:62504440-62504449
41	CEBPB	chr1:62645890-62646122	IMR90	lung:	n/a	chr1:62645964-62645975
42	CEBPB	chr1:62645928-62645973	A549	lung:	n/a	n/a
43	CEBPB	chr1:62446355-62446912	IMR90	lung:	n/a	chr1:62446734-62446745 chr1:62446733-62446746 chr1:62446733-62446746
44	CEBPB	chr1:62603704-62604058	IMR90	lung:	n/a	chr1:62603874-62603885
45	CEBPB	chr1:62469339-62469469	A549	lung:	n/a	n/a
46	CEBPB	chr1:62648992-62649221	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr1:62636329-62636517	HepG2	liver:	n/a	chr1:62636373-62636384
48	CEBPB	chr1:62631811-62631998	H1-hESC	embryonic stem cell:	n/a	chr1:62631907-62631918
49	CEBPB	chr1:62631801-62631987	HepG2	liver:	n/a	chr1:62631907-62631918
50	CEBPB	chr1:62645947-62646017	H1-hESC	embryonic stem cell:	n/a	chr1:62645964-62645975

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:62607877-62607927	AG09319	gingival:	n/a
2	chr1:62607877-62607927	AG09319	gingival:	n/a
3	chr1:62596817-62596867	HNPCEpiC	eye:	n/a
4	chr1:62524319-62524369	ProgFib	skin:	n/a
5	chr1:62445916-62445966	HCPEpiC	choroid plexus:	n/a
6	chr1:62596817-62596867	A549	lung:	n/a
7	chr1:62445916-62445966	AG04449	skin:	fetal
8	chr1:62512893-62512943	HL-60	blood:	n/a
9	chr1:62524319-62524369	BJ	skin:	n/a
10	chr1:62499140-62499190	HAEpiC	amniotic membrane:	n/a
11	chr1:62509654-62509704	SK-N-SH	brain:	n/a
12	chr1:62524319-62524369	Hepatocyte	liver:	n/a
13	chr1:62445916-62445966	HRCEpiC	kidney:	n/a
14	chr1:62594624-62594674	K562	blood:	n/a
15	chr1:62445916-62445966	SKMC	muscle:	n/a
16	chr1:62596817-62596867	GM12891	blood:	n/a
17	chr1:62524319-62524369	PANC-1	pancreas:	n/a
18	chr1:62509654-62509704	NHBE	bronchial:	n/a
19	chr1:62594603-62594653	Hela-S3	cervix:	n/a
20	chr1:62596817-62596867	HRPEpiC	eye:	n/a
21	chr1:62499140-62499190	HRPEpiC	eye:	n/a
22	chr1:62594568-62594618	HCF	heart:	n/a
23	chr1:62524319-62524369	Caco-2	colon:	n/a
24	chr1:62594603-62594653	HIPEpiC	eye:	n/a
25	chr1:62524319-62524369	AG09309	skin:	n/a
26	chr1:62524319-62524369	NT2-D1	testis:	n/a
27	chr1:62594568-62594618	ProgFib	skin:	n/a
28	chr1:62596817-62596867	HAEpiC	amniotic membrane:	n/a
29	chr1:62509654-62509704	NHDF-neo	bronchial:	n/a
30	chr1:62607877-62607927	HRCEpiC	kidney:	n/a
31	chr1:62594624-62594674	H1-hESC	embryonic stem cell:	embryo
32	chr1:62512893-62512943	HCF	heart:	n/a
33	chr1:62416593-62416643	HAEpiC	amniotic membrane:	n/a
34	chr1:62445916-62445966	BJ	skin:	n/a
35	chr1:62594624-62594674	HRE	kidney:	n/a
36	chr1:62594568-62594618	HRCEpiC	kidney:	n/a
37	chr1:62512893-62512943	AG04449	skin:	fetal
38	chr1:62512893-62512943	HEK293	kidney:	embryo
39	chr1:62594568-62594618	MCF-7	breast:	n/a
40	chr1:62499140-62499190	HCF	heart:	n/a
41	chr1:62499140-62499190	SK-N-MC	brain:	n/a
42	chr1:62594624-62594674	MCF-7	breast:	n/a
43	chr1:62512893-62512943	GM12878	blood:	n/a
44	chr1:62505592-62505642	HCT-116	colon:	n/a
45	chr1:62594603-62594653	HepG2	liver:	n/a
46	chr1:62416593-62416643	HCPEpiC	choroid plexus:	n/a
47	chr1:62499140-62499190	Hela-S3	cervix:	n/a
48	chr1:62499140-62499190	NHDF-neo	bronchial:	n/a
49	chr1:62594624-62594674	NHBE	bronchial:	n/a
50	chr1:62509654-62509704	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:62560418..62562159-chr1:62563244..62565670,2	MCF-7	breast:
2	chr1:62517802..62520189-chr1:62523523..62525175,2	K562	blood:
3	chr1:62548148..62549052-chr1:62609619..62610149,3	K562	blood:
4	chr1:62529076..62531050-chr1:62535115..62537806,2	MCF-7	breast:
5	chr1:62488087..62490869-chr1:62492445..62494953,2	K562	blood:
6	chr1:62548126..62548791-chr1:62596911..62597437,2	MCF-7	breast:
7	chr1:62644591..62647445-chr1:62694346..62697285,2	MCF-7	breast:
8	chr1:62548126..62548791-chr1:62596911..62597437,2	MCF-7	breast:
9	chr1:62641108..62641785-chr1:62872814..62873759,3	K562	blood:
10	chr1:62495138..62497072-chr1:62504088..62506298,2	MCF-7	breast:
11	chr1:62481608..62483564-chr1:62488703..62491650,2	MCF-7	breast:
12	chr1:62444307..62446951-chr1:62447722..62450460,2	K562	blood:
13	chr1:62641185..62641957-chr9:140067717..140068217,2	MCF-7	breast:
14	chr1:62420887..62422924-chr1:62423218..62424749,2	MCF-7	breast:
15	chr1:62640932..62641855-chr1:62872570..62873690,7	MCF-7	breast:
16	chr1:62641022..62641912-chr1:63211839..63212852,4	K562	blood:
17	chr1:62548148..62549052-chr1:62609619..62610149,3	K562	blood:
18	chr1:62444307..62446951-chr1:62447722..62450460,2	K562	blood:
19	chr1:62640856..62641941-chr1:62872775..62873607,4	MCF-7	breast:
20	chr1:62477919..62478756-chr9:3062250..3062792,2	MCF-7	breast:
21	chr1:62529076..62531050-chr1:62535115..62537806,2	MCF-7	breast:
22	chr1:62560418..62562159-chr1:62563244..62565670,2	MCF-7	breast:
23	chr1:62488087..62490869-chr1:62492445..62494953,2	K562	blood:
24	chr1:62517802..62520189-chr1:62523523..62525175,2	K562	blood:
25	chr1:62481608..62483564-chr1:62488703..62491650,2	MCF-7	breast:
26	chr1:62420887..62422924-chr1:62423218..62424749,2	MCF-7	breast:
27	chr1:62417324..62419162-chr1:62419469..62421904,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KANK4-1	chr1:62584553-62584681	ENSG00000225771.1
2	lnc-INADL-3	chr1:62634103-62634240	NONHSAT003626
3	lnc-L1TD1-6	chr1:62504514-62504783	NONHSAT003621
4	lnc-L1TD1-5	chr1:62538120-62538411	NONHSAT003622
5	lnc-INADL-3	chr1:62633088-62633800	NONHSAT003626
6	lnc-KANK4-1	chr1:62580420-62580719	ENSG00000225771.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3116	chr1:62544502-62544523	MIMAT0014978
hsa-miR-3116	chr1:62544466-62544487	MIMAT0014978_1

Variant related genes	Relation type
MIR3116-1	TF binding region
LAMTOR5P1	TF binding region
INADL	TF binding region
PIGPP2	TF binding region
RN7SL180P	TF binding region
MIR3116-1	CpG island
LAMTOR5P1	CpG island
INADL	CpG island
PIGPP2	CpG island
RN7SL180P	CpG island
ENSG00000236646	chromatin interactions
ENSG00000132849	chromatin interactions

Extended variants
information (count: 9372 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:9372 , 50 per page) page: 1 2 3 4 5 6 7 ... 188

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142039979	chr1:62407795-62407796	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74635311	chr1:62407804-62407805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559948251	chr1:62407809-62407810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7539620	chr1:62407853-62407854	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185037780	chr1:62407865-62407866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151147406	chr1:62407868-62407869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141400319	chr1:62407884-62407885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2498955	chr1:62407917-62407918	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531629779	chr1:62407978-62407979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112206633	chr1:62408022-62408023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543776827	chr1:62408028-62408029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565053892	chr1:62408038-62408039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188924578	chr1:62408069-62408070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143880713	chr1:62408155-62408156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548875546	chr1:62408157-62408158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57009563	chr1:62408240-62408241	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs565645633	chr1:62408254-62408255	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529641482	chr1:62408272-62408273	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs146890516	chr1:62408286-62408287	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs10889274	chr1:62408382-62408383	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537331872	chr1:62408411-62408412	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2482868	chr1:62408458-62408459	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570679019	chr1:62408459-62408460	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193176203	chr1:62408464-62408465	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184557557	chr1:62408472-62408473	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10889275	chr1:62408501-62408502	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574489037	chr1:62408546-62408547	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7530734	chr1:62408549-62408550	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs10889276	chr1:62408590-62408591	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189876508	chr1:62408641-62408642	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565191621	chr1:62408677-62408678	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181437003	chr1:62408738-62408739	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540868508	chr1:62408750-62408751	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72676275	chr1:62408764-62408765	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529743437	chr1:62408791-62408792	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548298529	chr1:62408821-62408822	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569287072	chr1:62408825-62408826	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138186512	chr1:62408826-62408827	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185069610	chr1:62408867-62408868	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570813599	chr1:62408868-62408869	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2990508	chr1:62408875-62408876	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553285112	chr1:62408907-62408908	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10047074	chr1:62408970-62408971	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143221421	chr1:62408996-62408997	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557514257	chr1:62409017-62409018	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188265409	chr1:62409032-62409033	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539797033	chr1:62409099-62409100	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546227122	chr1:62409150-62409151	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558840647	chr1:62409151-62409152	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139012347	chr1:62409155-62409156	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2310 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62336000-62408600	Weak transcription	Pancreas	Pancrea
2	chr1:62346200-62417600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:62350600-62428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:62350800-62417600	Weak transcription	Ovary	ovary
5	chr1:62353800-62408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:62361600-62408800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:62362000-62408600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:62372400-62408800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:62372400-62417600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:62374600-62410600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:62376200-62417600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:62380600-62408600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:62380800-62410000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:62381000-62408200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:62381000-62416000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:62381200-62417400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:62381200-62418400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:62383400-62408000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:62384600-62408200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:62384600-62408800	Weak transcription	Fetal Intestine Large	intestine
21	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
22	chr1:62385400-62408400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:62385400-62408600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:62386000-62408600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:62391800-62409000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:62392000-62408800	Weak transcription	Gastric	stomach
27	chr1:62392600-62408600	Weak transcription	Stomach Mucosa	stomach
28	chr1:62392600-62408800	Weak transcription	Left Ventricle	heart
29	chr1:62393800-62422400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:62395000-62408600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:62395000-62410800	Weak transcription	Liver	Liver
32	chr1:62395800-62408200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:62396200-62408600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:62396200-62416000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:62396200-62417200	Weak transcription	HMEC	breast
36	chr1:62396400-62408200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:62396400-62408600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:62396400-62418000	Weak transcription	Fetal Kidney	kidney
39	chr1:62397400-62408200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:62397600-62408600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:62398000-62408200	Weak transcription	NHEK	skin
42	chr1:62398200-62408400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:62398200-62408600	Weak transcription	Esophagus	oesophagus
44	chr1:62398800-62408600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:62400600-62417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:62401400-62408800	Weak transcription	Lung	lung
47	chr1:62406000-62408000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:62406000-62408800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:62406400-62408200	Weak transcription	Fetal Intestine Small	intestine
50	chr1:62406600-62430200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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