Variant report

Variant	nsv539888
Chromosome Location	chr9:325712-517545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2018)
CpG islands
(count:732)
Chromatin interactive
region (count:75)
LncRNA
region (count:66)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2018 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:489187-489524	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:495829-496174	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:463883-464115	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:504390-504746	K562	blood:	n/a	n/a
5	ARID3A	chr9:371491-371553	K562	blood:	n/a	n/a
6	ARID3A	chr9:336046-336405	HepG2	liver:	n/a	n/a
7	ATF1	chr9:428430-428702	K562	blood:	n/a	n/a
8	ATF1	chr9:491995-492195	K562	blood:	n/a	n/a
9	ATF3	chr9:326568-327022	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr9:505331-505595	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr9:503516-503574	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr9:450112-450344	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr9:503882-504954	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr9:470546-470746	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL11A	chr9:331212-331567	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL3	chr9:489067-489648	A549	lung:	n/a	n/a
17	BCL3	chr9:469817-470210	A549	lung:	n/a	chr9:470121-470130
18	BCL3	chr9:470157-470838	A549	lung:	n/a	n/a
19	BCL3	chr9:463755-464226	A549	lung:	n/a	n/a
20	BCL3	chr9:503842-504488	A549	lung:	n/a	chr9:504175-504184 chr9:504327-504340 chr9:504456-504469
21	BCLAF1	chr9:469741-470596	GM12878	blood:	n/a	chr9:470121-470130
22	BHLHE40	chr9:503924-504891	K562	blood:	n/a	chr9:504430-504446 chr9:504607-504623 chr9:504604-504620 chr9:504606-504622
23	BHLHE40	chr9:470898-470911	GM12878	blood:	n/a	n/a
24	BHLHE40	chr9:504376-504833	GM12878	blood:	n/a	chr9:504430-504446 chr9:504607-504623 chr9:504604-504620 chr9:504606-504622
25	BHLHE40	chr9:470231-470621	K562	blood:	n/a	n/a
26	BHLHE40	chr9:439327-439591	HepG2	liver:	n/a	n/a
27	BHLHE40	chr9:494860-495111	HepG2	liver:	n/a	n/a
28	BHLHE40	chr9:463654-464244	HepG2	liver:	n/a	n/a
29	BHLHE40	chr9:469953-470590	GM12878	blood:	n/a	chr9:470115-470131
30	BRCA1	chr9:504440-504580	HepG2	liver:	n/a	n/a
31	CBX3	chr9:456299-456866	HCT-116	colon:	n/a	n/a
32	CCNT2	chr9:503997-505117	K562	blood:	n/a	chr9:504819-504828
33	CCNT2	chr9:371246-371675	K562	blood:	n/a	n/a
34	CCNT2	chr9:373782-374327	K562	blood:	n/a	chr9:373878-373898
35	CCNT2	chr9:469873-470321	K562	blood:	n/a	n/a
36	CEBPB	chr9:436496-436837	Hela-S3	cervix:	n/a	chr9:436672-436681 chr9:436672-436683 chr9:436670-436681
37	CEBPB	chr9:439526-439896	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr9:436505-436860	IMR90	lung:	n/a	chr9:436672-436681 chr9:436672-436683 chr9:436670-436681
39	CEBPB	chr9:504299-504587	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr9:336036-336405	MCF-7	breast:	n/a	n/a
41	CEBPB	chr9:489177-489772	HepG2	liver:	n/a	n/a
42	CEBPB	chr9:347684-348092	A549	lung:	n/a	n/a
43	CEBPB	chr9:436588-436755	K562	blood:	n/a	chr9:436672-436681 chr9:436672-436683 chr9:436670-436681
44	CEBPB	chr9:486108-486526	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr9:377597-377806	IMR90	lung:	n/a	n/a
46	CEBPB	chr9:445468-445763	HepG2	liver:	n/a	chr9:445630-445641
47	CEBPB	chr9:347766-348009	IMR90	lung:	n/a	n/a
48	CEBPB	chr9:489180-489720	MCF-7	breast:	n/a	n/a
49	CEBPB	chr9:450182-450402	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr9:486090-486669	A549	lung:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:471920-471970	PFSK-1	brain:	n/a
2	chr9:471920-471970	NHDF-neo	bronchial:	n/a
3	chr9:505571-505621	NHDF-neo	bronchial:	n/a
4	chr9:505721-505771	RPTEC	kidney:	n/a
5	chr9:471920-471970	Hepatocyte	liver:	n/a
6	chr9:469777-469827	T-47D	breast:	n/a
7	chr9:504774-504824	Caco-2	colon:	n/a
8	chr9:426894-426944	A549	lung:	n/a
9	chr9:504774-504824	HAEpiC	amniotic membrane:	n/a
10	chr9:504774-504824	SAEC	small airway:	n/a
11	chr9:505235-505285	AG09309	skin:	n/a
12	chr9:472966-473016	Jurkat	blood:	n/a
13	chr9:426894-426944	HCPEpiC	choroid plexus:	n/a
14	chr9:470323-470373	Hela-S3	cervix:	n/a
15	chr9:507411-507461	HMEC	breast:	n/a
16	chr9:426894-426944	HCT-116	colon:	n/a
17	chr9:469777-469827	SAEC	small airway:	n/a
18	chr9:507411-507461	AoSMC	blood vessel:	n/a
19	chr9:472966-473016	AG09319	gingival:	n/a
20	chr9:507411-507461	Caco-2	colon:	n/a
21	chr9:470323-470373	GM12878	blood:	n/a
22	chr9:469777-469827	HPAEpiC	pulmonary alveolar:	n/a
23	chr9:504774-504824	HUVEC	blood vessel:	n/a
24	chr9:507411-507461	Jurkat	blood:	n/a
25	chr9:504774-504824	HEK293	kidney:	embryo
26	chr9:505235-505285	Jurkat	blood:	n/a
27	chr9:471920-471970	HRPEpiC	eye:	n/a
28	chr9:505721-505771	SK-N-SH_RA	brain:	n/a
29	chr9:469777-469827	AG10803	skin:	n/a
30	chr9:505721-505771	GM19239	blood:	n/a
31	chr9:505571-505621	NHBE	bronchial:	n/a
32	chr9:503937-503987	SAEC	small airway:	n/a
33	chr9:471920-471970	HRCEpiC	kidney:	n/a
34	chr9:507411-507461	HL-60	blood:	n/a
35	chr9:507411-507461	MCF10A-Er-Src	breast:	n/a
36	chr9:470323-470373	LNCaP	prostate:	n/a
37	chr9:505235-505285	NB4	blood:	n/a
38	chr9:507411-507461	HEK293	kidney:	embryo
39	chr9:504774-504824	SK-N-SH_RA	brain:	n/a
40	chr9:505721-505771	SK-N-SH	brain:	n/a
41	chr9:507411-507461	SAEC	small airway:	n/a
42	chr9:505571-505621	BE2_C	brain:	n/a
43	chr9:507411-507461	SK-N-MC	brain:	n/a
44	chr9:472966-473016	HRE	kidney:	n/a
45	chr9:505571-505621	GM12878	blood:	n/a
46	chr9:505721-505771	H1-hESC	embryonic stem cell:	embryo
47	chr9:426894-426944	BJ	skin:	n/a
48	chr9:505571-505621	H1-hESC	embryonic stem cell:	embryo
49	chr9:426894-426944	MCF10A-Er-Src	breast:	n/a
50	chr9:505235-505285	AG04450	lung:	fetal

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:326951..329483-chr9:330404..332162,2	K562	blood:
2	chr5:96288877..96289613-chr9:429812..430395,2	MCF-7	breast:
3	chr9:385494..386481-chr9:546680..547596,3	MCF-7	breast:
4	chr9:490052..492255-chr9:502875..504712,2	MCF-7	breast:
5	chr9:347951..349550-chr9:363997..366575,2	MCF-7	breast:
6	chr1:43147839..43148507-chr9:470046..470650,2	NB4	blood:
7	chr9:490052..492255-chr9:502875..504712,2	MCF-7	breast:
8	chr9:457391..459101-chr9:460366..462265,2	MCF-7	breast:
9	chr9:504296..504898-chr9:21802481..21802992,2	HCT-116	colon:
10	chr9:396391..399763-chr9:403196..405645,3	K562	blood:
11	chr9:494848..496689-chr9:501659..504144,2	MCF-7	breast:
12	chr9:468995..471572-chr9:503851..506185,2	MCF-7	breast:
13	chr12:21809676..21810203-chr9:455132..455632,2	NB4	blood:
14	chr9:490701..492635-chr9:494682..497058,2	K562	blood:
15	chr15:65809681..65810581-chr9:469632..470519,2	NB4	blood:
16	chr9:495605..498122-chr9:502386..505122,3	MCF-7	breast:
17	chr9:438728..443718-chr9:444221..448963,4	K562	blood:
18	chr9:385679..386467-chr9:459526..460401,4	MCF-7	breast:
19	chr9:494848..496689-chr9:501659..504144,2	MCF-7	breast:
20	chr9:396391..399763-chr9:403196..405645,3	K562	blood:
21	chr9:468933..471416-chr9:484729..487754,3	MCF-7	breast:
22	chr9:414319..416465-chr9:419585..421155,2	MCF-7	breast:
23	chr9:324085..328451-chr9:329787..332698,3	K562	blood:
24	chr9:469326..471004-chr9:547085..549851,2	MCF-7	breast:
25	chr9:469974..471479-chr9:511045..512830,2	K562	blood:
26	chr9:347287..349476-chr9:362112..363970,2	MCF-7	breast:
27	chr9:487771..490019-chr9:514331..516293,2	MCF-7	breast:
28	chr9:347437..348401-chr9:378296..379161,3	MCF-7	breast:
29	chr9:347437..348401-chr9:378296..379161,3	MCF-7	breast:
30	chr9:326951..329483-chr9:330404..332162,2	K562	blood:
31	chr9:324085..328451-chr9:329787..332698,3	K562	blood:
32	chr9:347478..348338-chr9:806313..807172,2	MCF-7	breast:
33	chr9:459270..461586-chr9:468346..470515,2	MCF-7	breast:
34	chr9:444957..447415-chrX:145121393..145123151,2	MCF-7	breast:
35	chr9:350965..353575-chr9:397923..399924,2	K562	blood:
36	chr9:331276..333871-chr9:335644..338943,3	MCF-7	breast:
37	chr9:316274..318543-chr9:331270..334145,2	MCF-7	breast:
38	chr9:470985..473419-chr9:489407..491415,2	MCF-7	breast:
39	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
40	chr9:385566..386417-chr9:764222..764740,2	MCF-7	breast:
41	chr9:454517..457686-chr9:460777..463722,3	K562	blood:
42	chr9:347477..348464-chr9:378346..378946,4	MCF-7	breast:
43	chr1:23494875..23495400-chr9:469098..469749,2	NB4	blood:
44	chr9:385789..386423-chr9:612104..612846,2	K562	blood:
45	chr9:469030..473266-chr9:476113..479118,4	MCF-7	breast:
46	chr9:462619..465055-chr9:466811..469681,2	K562	blood:
47	chr9:462619..465055-chr9:466811..469681,2	K562	blood:
48	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
49	chr9:438728..443718-chr9:444221..448963,4	K562	blood:
50	chr1:27191066..27191830-chr9:408050..409042,2	NB4	blood:

(count:66 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
2	lnc-C9orf66-2	chr9:470765-470816	ENSG00000227155.3
3	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
4	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
5	lnc-C9orf66-2	chr9:454576-454606	ENSG00000227155.3
6	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
7	lnc-C9orf66-2	chr9:456201-456988	ENSG00000227155.3
8	lnc-C9orf66-2	chr9:456204-456703	ENSG00000227155.3
9	lnc-C9orf66-2	chr9:466688-467219	ENSG00000227155.3
10	lnc-C9orf66-2	chr9:456211-456703	ENSG00000227155.3
11	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
12	lnc-C9orf66-2	chr9:458117-458281	ENSG00000227155.3
13	lnc-C9orf66-7	chr9:503057-504746	NONHSAT129929
14	lnc-C9orf66-2	chr9:488957-489066	ENSG00000227155.3
15	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
16	lnc-C9orf66-2	chr9:454457-454606	ENSG00000227155.3
17	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
18	lnc-C9orf66-2	chr9:456518-456703	ENSG00000227155.3
19	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
20	lnc-C9orf66-2	chr9:454447-454606	ENSG00000227155.3
21	lnc-C9orf66-2	chr9:458370-458423	ENSG00000227155.3
22	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
23	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
24	lnc-DOCK8-1	chr9:487774-487803	ENSG00000228115.1
25	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
26	lnc-C9orf66-2	chr9:470765-470934	ENSG00000227155.3
27	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
28	lnc-DOCK8-5	chr9:470592-470677	NONHSAT129926
29	lnc-DOCK8-5	chr9:471467-471586	NONHSAT129927
30	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
31	lnc-C9orf66-2	chr9:466900-467336	ENSG00000227155.3
32	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.3
33	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
34	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129927
35	lnc-C9orf66-8	chr9:507258-507553	NONHSAT129930
36	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.1
37	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
38	lnc-C9orf66-2	chr9:459716-460507	ENSG00000227155.3
39	lnc-C9orf66-2	chr9:466688-466853	ENSG00000227155.3
40	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
41	lnc-C9orf66-2	chr9:465962-466065	ENSG00000227155.3
42	lnc-C9orf66-2	chr9:456545-456703	ENSG00000227155.3
43	lnc-C9orf66-2	chr9:492084-492112	ENSG00000227155.3
44	lnc-C9orf66-2	chr9:459716-459815	ENSG00000227155.3
45	lnc-C9orf66-2	chr9:459716-460227	ENSG00000227155.3
46	lnc-C9orf66-2	chr9:456201-456358	ENSG00000227155.1
47	lnc-DOCK8-5	chr9:484282-484491	NONHSAT129926
48	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
49	lnc-C9orf66-2	chr9:469722-469836	ENSG00000227155.3
50	lnc-DOCK8-5	chr9:471449-471586	NONHSAT129926

No data

Variant related genes	Relation type
DOCK8	TF binding region
RN7SL412P	TF binding region
ENSG00000228115	TF binding region
ENSG00000227155	TF binding region
KANK1	TF binding region
ENSG00000235330	TF binding region
DOCK8	CpG island
RN7SL412P	CpG island
ENSG00000228115	CpG island
ENSG00000227155	CpG island
KANK1	CpG island
ENSG00000235330	CpG island
ENSG00000235330	chromatin interactions
ENSG00000099810	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000107104	chromatin interactions
ENSG00000107099	chromatin interactions
ENSG00000228115	chromatin interactions
ENSG00000264545	chromatin interactions
ENSG00000226403	chromatin interactions
ENSG00000065978	chromatin interactions
ENSG00000074603	chromatin interactions
ENSG00000169641	chromatin interactions

Extended variants
information (count: 10515 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:10515 , 50 per page) page: 1 2 3 4 5 6 7 ... 211

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201244929	chr9:325713-325714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369844425	chr9:325716-325717	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563721489	chr9:325717-325718	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577392552	chr9:325725-325726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146595893	chr9:325747-325748	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199555412	chr9:325760-325761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376392082	chr9:325761-325762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375826924	chr9:325770-325771	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141360559	chr9:325773-325774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369700857	chr9:325784-325785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3831138	chr9:325811-325812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372430515	chr9:325812-325813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369311817	chr9:325814-325815	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373761898	chr9:325817-325818	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531275096	chr9:325831-325832	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549506559	chr9:325835-325836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569336454	chr9:325850-325851	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538328837	chr9:325856-325857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551869488	chr9:325884-325885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565508237	chr9:325942-325943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534517409	chr9:325958-325959	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7019093	chr9:325993-325994	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567417156	chr9:326022-326023	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10970443	chr9:326050-326051	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115162945	chr9:326070-326071	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368803154	chr9:326102-326103	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546360319	chr9:326103-326104	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557378053	chr9:326125-326126	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10491694	chr9:326130-326131	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs10970457	chr9:326184-326185	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs181476893	chr9:326190-326191	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541830349	chr9:326200-326201	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186580807	chr9:326201-326202	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12350289	chr9:326206-326207	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562354228	chr9:326213-326214	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531088111	chr9:326222-326223	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559180533	chr9:326227-326228	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148385033	chr9:326279-326280	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562908787	chr9:326306-326307	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531999036	chr9:326331-326332	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551805091	chr9:326341-326342	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140440983	chr9:326373-326374	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534764223	chr9:326375-326376	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10970464	chr9:326400-326401	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530674930	chr9:326416-326417	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10970468	chr9:326448-326449	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570359394	chr9:326471-326472	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114276973	chr9:326477-326478	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532949429	chr9:326497-326498	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191031683	chr9:326507-326508	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Myelodysplastic syndrome	21251322	CNVD
Primary immunodeficiency	22942019	CNVD
Melanoma	20877625	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3153 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:268800-337200	Weak transcription	Gastric	stomach
2	chr9:302600-350200	Weak transcription	Small Intestine	intestine
3	chr9:304400-334200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:305200-378000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:310600-336200	Weak transcription	Colonic Mucosa	Colon
6	chr9:312200-330800	Weak transcription	Pancreas	Pancrea
7	chr9:312800-336600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:313200-326200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:313200-336000	Weak transcription	Liver	Liver
10	chr9:315200-335400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:317800-352200	Weak transcription	K562	blood
12	chr9:318800-326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:318800-327600	Weak transcription	Adipose Nuclei	Adipose
14	chr9:318800-328000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr9:319000-328000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:319000-328000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr9:319000-328000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:319400-330600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:320000-326200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:320200-325800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr9:320200-327800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr9:320400-325800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr9:320400-328000	Weak transcription	Lung	lung
24	chr9:320400-328200	Weak transcription	Placenta	Placenta
25	chr9:320400-344000	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:322400-328000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr9:322400-334400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr9:322400-334800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr9:322400-335000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr9:322400-348800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:322400-349400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:322400-349600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr9:322400-350000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr9:322400-353600	Strong transcription	Fetal Thymus	thymus
35	chr9:322400-355600	Strong transcription	Thymus	Thymus
36	chr9:322400-412200	Strong transcription	Primary T cells from cord blood	blood
37	chr9:322400-447000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:322400-467200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr9:322400-467200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr9:322600-349400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr9:323000-328000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr9:323600-334800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:323600-347200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr9:323600-359800	Strong transcription	Dnd41	blood
45	chr9:323600-467200	Strong transcription	Primary B cells from cord blood	blood
46	chr9:324200-326200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr9:324400-326000	Enhancers	Fetal Intestine Large	intestine
48	chr9:324800-326400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:324800-326400	Weak transcription	Spleen	Spleen
50	chr9:324800-337200	Weak transcription	Esophagus	oesophagus

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