Variant report

Variant	nsv429976
Chromosome Location	chr9:302324-678088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3813)
CpG islands
(count:796)
Chromatin interactive
region (count:127)
LncRNA
region (count:77)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3813 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:463883-464115	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:676651-678350	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:336046-336405	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:371491-371553	K562	blood:	n/a	n/a
5	ARID3A	chr9:592251-592433	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:489187-489524	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:504390-504746	K562	blood:	n/a	n/a
8	ARID3A	chr9:495829-496174	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:613790-614724	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:672953-673149	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:673768-674544	HepG2	liver:	n/a	n/a
12	ATF1	chr9:428430-428702	K562	blood:	n/a	n/a
13	ATF1	chr9:491995-492195	K562	blood:	n/a	n/a
14	ATF1	chr9:312958-313372	K562	blood:	n/a	n/a
15	ATF3	chr9:557723-558324	A549	lung:	n/a	n/a
16	ATF3	chr9:326568-327022	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr9:674115-674612	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr9:503516-503574	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr9:505331-505595	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr9:450112-450344	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr9:470546-470746	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr9:557912-558114	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr9:652937-653241	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr9:561382-561724	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr9:503882-504954	H1-hESC	embryonic stem cell:	n/a	n/a
26	BCL11A	chr9:674204-674357	H1-hESC	embryonic stem cell:	n/a	n/a
27	BCL11A	chr9:674131-674488	H1-hESC	embryonic stem cell:	n/a	n/a
28	BCL11A	chr9:331212-331567	H1-hESC	embryonic stem cell:	n/a	n/a
29	BCL3	chr9:489067-489648	A549	lung:	n/a	n/a
30	BCL3	chr9:561341-561682	GM12878	blood:	n/a	n/a
31	BCL3	chr9:557812-558394	A549	lung:	n/a	n/a
32	BCL3	chr9:463755-464226	A549	lung:	n/a	n/a
33	BCL3	chr9:470157-470838	A549	lung:	n/a	n/a
34	BCL3	chr9:561269-561869	A549	lung:	n/a	n/a
35	BCL3	chr9:469817-470210	A549	lung:	n/a	chr9:470121-470130
36	BCL3	chr9:503842-504488	A549	lung:	n/a	chr9:504175-504184 chr9:504327-504340 chr9:504456-504469
37	BCLAF1	chr9:469741-470596	GM12878	blood:	n/a	chr9:470121-470130
38	BCLAF1	chr9:307023-307293	GM12878	blood:	n/a	n/a
39	BHLHE40	chr9:470898-470911	GM12878	blood:	n/a	n/a
40	BHLHE40	chr9:470231-470621	K562	blood:	n/a	n/a
41	BHLHE40	chr9:494860-495111	HepG2	liver:	n/a	n/a
42	BHLHE40	chr9:503924-504891	K562	blood:	n/a	chr9:504430-504446 chr9:504607-504623 chr9:504604-504620 chr9:504606-504622
43	BHLHE40	chr9:469953-470590	GM12878	blood:	n/a	chr9:470115-470131
44	BHLHE40	chr9:567560-567673	GM12878	blood:	n/a	n/a
45	BHLHE40	chr9:504376-504833	GM12878	blood:	n/a	chr9:504430-504446 chr9:504607-504623 chr9:504604-504620 chr9:504606-504622
46	BHLHE40	chr9:546835-547287	K562	blood:	n/a	n/a
47	BHLHE40	chr9:463654-464244	HepG2	liver:	n/a	n/a
48	BHLHE40	chr9:614452-614687	HepG2	liver:	n/a	n/a
49	BHLHE40	chr9:439327-439591	HepG2	liver:	n/a	n/a
50	BHLHE40	chr9:629150-629515	GM12878	blood:	n/a	n/a

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:505571-505621	ECC-1	luminal epithelium:	n/a
2	chr9:426894-426944	SKMC	muscle:	n/a
3	chr9:426894-426944	RPTEC	kidney:	n/a
4	chr9:505571-505621	ECC-1	luminal epithelium:	n/a
5	chr9:426894-426944	SKMC	muscle:	n/a
6	chr9:426894-426944	RPTEC	kidney:	n/a
7	chr9:505571-505621	A549	lung:	n/a
8	chr9:472966-473016	AG04449	skin:	fetal
9	chr9:469777-469827	IMR90	lung:	fetal
10	chr9:505235-505285	AoSMC	blood vessel:	n/a
11	chr9:507411-507461	HPAEpiC	pulmonary alveolar:	n/a
12	chr9:503937-503987	H1-hESC	embryonic stem cell:	embryo
13	chr9:503937-503987	Hela-S3	cervix:	n/a
14	chr9:472966-473016	H1-hESC	embryonic stem cell:	embryo
15	chr9:507411-507461	RPTEC	kidney:	n/a
16	chr9:470109-470159	ECC-1	luminal epithelium:	n/a
17	chr9:472966-473016	HCT-116	colon:	n/a
18	chr9:469777-469827	GM12891	blood:	n/a
19	chr9:503937-503987	GM12878	blood:	n/a
20	chr9:426894-426944	Caco-2	colon:	n/a
21	chr9:472966-473016	BE2_C	brain:	n/a
22	chr9:574312-574362	GM19239	blood:	n/a
23	chr9:574312-574362	PFSK-1	brain:	n/a
24	chr9:574312-574362	NT2-D1	testis:	n/a
25	chr9:426894-426944	AG10803	skin:	n/a
26	chr9:505571-505621	AoSMC	blood vessel:	n/a
27	chr9:505571-505621	SK-N-SH	brain:	n/a
28	chr9:504774-504824	IMR90	lung:	fetal
29	chr9:472966-473016	CMK	blood:	n/a
30	chr9:507411-507461	SK-N-MC	brain:	n/a
31	chr9:505571-505621	SAEC	small airway:	n/a
32	chr9:469777-469827	PANC-1	pancreas:	n/a
33	chr9:471920-471970	HRE	kidney:	n/a
34	chr9:505721-505771	SK-N-SH_RA	brain:	n/a
35	chr9:574312-574362	U87	brain:	n/a
36	chr9:470323-470373	U87	brain:	n/a
37	chr9:505721-505771	HNPCEpiC	eye:	n/a
38	chr9:470323-470373	GM12892	blood:	n/a
39	chr9:505235-505285	BE2_C	brain:	n/a
40	chr9:470323-470373	SK-N-SH	brain:	n/a
41	chr9:507411-507461	ECC-1	luminal epithelium:	n/a
42	chr9:504774-504824	SK-N-SH	brain:	n/a
43	chr9:504774-504824	ovcar-3	ovarian:	n/a
44	chr9:507411-507461	AG09309	skin:	n/a
45	chr9:505721-505771	AG04450	lung:	fetal
46	chr9:505721-505771	PFSK-1	brain:	n/a
47	chr9:472966-473016	MCF10A-Er-Src	breast:	n/a
48	chr9:470323-470373	HRPEpiC	eye:	n/a
49	chr9:505721-505771	GM12892	blood:	n/a
50	chr9:470323-470373	HepG2	liver:	n/a

(count:127 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:350965..353575-chr9:397923..399924,2	K562	blood:
2	chr9:385756..386457-chr9:1008777..1009377,2	MCF-7	breast:
3	chr9:318530..320927-chr9:322721..325349,2	K562	blood:
4	chr9:512039..514160-chr9:515791..519174,3	K562	blood:
5	chr9:613814..614512-chr9:1017801..1018342,2	MCF-7	breast:
6	chr9:326951..329483-chr9:330404..332162,2	K562	blood:
7	chr9:582031..585321-chr9:586707..590039,3	K562	blood:
8	chr9:396391..399763-chr9:403196..405645,3	K562	blood:
9	chr9:316274..318543-chr9:331270..334145,2	MCF-7	breast:
10	chr9:581438..583645-chr9:586871..590074,4	MCF-7	breast:
11	chr9:457391..459101-chr9:460366..462265,2	MCF-7	breast:
12	chr9:331276..333871-chr9:335644..338943,3	MCF-7	breast:
13	chr9:581860..582832-chr9:613640..614518,3	MCF-7	breast:
14	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
15	chr9:613569..614095-chr9:1100690..1101615,2	MCF-7	breast:
16	chr9:324085..328451-chr9:329787..332698,3	K562	blood:
17	chr9:634722..638024-chr9:640128..643682,5	MCF-7	breast:
18	chr10:74033442..74034170-chr9:469881..470831,2	NB4	blood:
19	chr9:500269..502662-chr9:502681..505040,2	MCF-7	breast:
20	chr9:385789..386423-chr9:612104..612846,2	K562	blood:
21	chr9:613650..614569-chr9:806256..807252,7	MCF-7	breast:
22	chr9:530586..533539-chr9:534026..536380,2	MCF-7	breast:
23	chr9:613026..614583-chr9:763698..764753,25	MCF-7	breast:
24	chr9:613644..614435-chr9:753933..755128,3	MCF-7	breast:
25	chr9:468995..471572-chr9:503851..506185,2	MCF-7	breast:
26	chr9:217275..219531-chr9:301975..303827,2	MCF-7	breast:
27	chr1:27191066..27191830-chr9:408050..409042,2	NB4	blood:
28	chr9:490052..492255-chr9:502875..504712,2	MCF-7	breast:
29	chr9:504296..504898-chr9:21802481..21802992,2	HCT-116	colon:
30	chr9:438728..443718-chr9:444221..448963,4	K562	blood:
31	chr9:213452..215018-chr9:305580..307976,2	K562	blood:
32	chr9:469030..473266-chr9:476113..479118,4	MCF-7	breast:
33	chr9:555602..557901-chr9:561314..563396,2	K562	blood:
34	chr9:581168..581745-chr9:613579..614471,2	MCF-7	breast:
35	chr9:470985..473419-chr9:489407..491415,2	MCF-7	breast:
36	chr9:495605..498122-chr9:502386..505122,3	MCF-7	breast:
37	chr9:487771..490019-chr9:514331..516293,2	MCF-7	breast:
38	chr9:634722..638024-chr9:640128..643682,5	MCF-7	breast:
39	chr9:581871..582698-chr9:763741..764739,5	MCF-7	breast:
40	chr1:43147839..43148507-chr9:470046..470650,2	NB4	blood:
41	chr9:387700..389795-chr9:395557..397565,2	MCF-7	breast:
42	chr9:347478..348338-chr9:806313..807172,2	MCF-7	breast:
43	chr9:396391..399763-chr9:403196..405645,3	K562	blood:
44	chr9:385494..386481-chr9:546680..547596,3	MCF-7	breast:
45	chr9:385596..386468-chr9:546637..547164,2	MCF-7	breast:
46	chr9:441366..444017-chr9:451304..454209,2	MCF-7	breast:
47	chr9:303334..306488-chr9:313112..315414,3	MCF-7	breast:
48	chr9:555602..557901-chr9:561314..563396,2	K562	blood:
49	chr9:468933..471416-chr9:484729..487754,3	MCF-7	breast:
50	chr9:284961..287002-chr9:306876..309185,2	K562	blood:

(count:77 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOCK8-2	chr9:549107-549531	ENSG00000226403.1
2	lnc-DOCK8-2	chr9:547038-547341	NONHSAT129931
3	lnc-C9orf66-2	chr9:459716-460227	ENSG00000227155.3
4	lnc-C9orf66-2	chr9:456204-456703	ENSG00000227155.3
5	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
6	lnc-C9orf66-2	chr9:488957-489066	ENSG00000227155.3
7	lnc-C9orf66-2	chr9:456201-456988	ENSG00000227155.3
8	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
9	lnc-C9orf66-2	chr9:454457-454606	ENSG00000227155.3
10	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.1
11	lnc-C9orf66-2	chr9:465962-466065	ENSG00000227155.3
12	lnc-DOCK8-5	chr9:471449-471586	NONHSAT129926
13	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
14	lnc-C9orf66-2	chr9:470765-470934	ENSG00000227155.3
15	lnc-C9orf66-2	chr9:459716-460507	ENSG00000227155.3
16	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
17	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
18	lnc-C9orf66-2	chr9:454585-454606	ENSG00000227155.3
19	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
20	lnc-C9orf66-2	chr9:456518-456703	ENSG00000227155.3
21	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
22	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129927
23	lnc-C9orf66-8	chr9:507258-507553	NONHSAT129930
24	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
25	lnc-C9orf66-2	chr9:454447-454606	ENSG00000227155.3
26	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
27	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
28	lnc-C9orf66-2	chr9:492084-492112	ENSG00000227155.3
29	lnc-DOCK8-2	chr9:547318-547341	ENSG00000226403.1
30	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
31	lnc-C9orf66-3	chr9:673478-674379	ENSG00000227914.3
32	lnc-C9orf66-2	chr9:469722-469836	ENSG00000227155.3
33	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
34	lnc-DOCK8-5	chr9:484282-484491	NONHSAT129926
35	lnc-C9orf66-3	chr9:674124-674379	ENSG00000227914.3
36	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129926
37	lnc-DOCK8-2	chr9:547317-547341	ENSG00000226403.1
38	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.3
39	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
40	lnc-C9orf66-2	chr9:470765-470816	ENSG00000227155.3
41	lnc-C9orf66-2	chr9:456201-456358	ENSG00000227155.1
42	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
43	lnc-DMRT1-3	chr9:659986-660326	NONHSAT129934
44	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
45	lnc-C9orf66-2	chr9:456530-456703	ENSG00000227155.3
46	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
47	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
48	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
49	lnc-DOCK8-5	chr9:471467-471586	NONHSAT129927
50	lnc-C9orf66-2	chr9:454576-454606	ENSG00000227155.3

No data

Variant related genes	Relation type
KANK1	TF binding region
ENSG00000235330	TF binding region
ENSG00000226403	TF binding region
ENSG00000229875	TF binding region
ENSG00000228115	TF binding region
RN7SL412P	TF binding region
ENSG00000227914	TF binding region
DOCK8	TF binding region
ENSG00000227155	TF binding region
RNU6-1327P	TF binding region
KANK1	CpG island
ENSG00000235330	CpG island
ENSG00000226403	CpG island
ENSG00000229875	CpG island
ENSG00000228115	CpG island
RN7SL412P	CpG island
ENSG00000227914	CpG island
DOCK8	CpG island
ENSG00000227155	CpG island
RNU6-1327P	CpG island
ENSG00000107099	chromatin interactions
ENSG00000065978	chromatin interactions
ENSG00000226403	chromatin interactions
ENSG00000074603	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000099810	chromatin interactions
ENSG00000235330	chromatin interactions
ENSG00000228115	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000169641	chromatin interactions
ENSG00000264545	chromatin interactions
ENSG00000107104	chromatin interactions

Extended variants
information (count: 21413 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:21413 , 50 per page) page: 1 2 3 4 5 6 7 ... 429

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs476324	chr9:302324-302325	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549657592	chr9:302379-302380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569822953	chr9:302398-302399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34021835	chr9:302423-302424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538492747	chr9:302448-302449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79453940	chr9:302449-302450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185771905	chr9:302497-302498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149887097	chr9:302513-302514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202219733	chr9:302535-302536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576281715	chr9:302546-302547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373618156	chr9:302553-302554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534666966	chr9:302556-302557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78939902	chr9:302595-302596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111302361	chr9:302629-302630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146450591	chr9:302634-302635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190141322	chr9:302654-302655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10969058	chr9:302657-302658	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577350444	chr9:302658-302659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562873	chr9:302663-302664	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs541557307	chr9:302669-302670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140951562	chr9:302680-302681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528808478	chr9:302749-302750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541406697	chr9:302759-302760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540986097	chr9:302782-302783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560864895	chr9:302823-302824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529756222	chr9:302829-302830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574980443	chr9:302839-302840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569679739	chr9:302851-302852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561272462	chr9:302876-302877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532308274	chr9:302886-302887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143272718	chr9:302896-302897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373029520	chr9:302943-302944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183190756	chr9:302952-302953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534609281	chr9:302963-302964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554486786	chr9:302980-302981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548195780	chr9:302983-302984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536634687	chr9:303004-303005	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146834182	chr9:303014-303015	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537082989	chr9:303029-303030	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557403362	chr9:303059-303060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10120948	chr9:303062-303063	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148984407	chr9:303070-303071	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553614124	chr9:303073-303074	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573530102	chr9:303085-303086	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542532184	chr9:303108-303109	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562402055	chr9:303116-303117	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543994296	chr9:303121-303122	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563861320	chr9:303125-303126	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143801856	chr9:303142-303143	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543073948	chr9:303151-303152	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-small cell lung cancer	16651412	CNVD
Cancer	21272361	CNVD

Chromatin state (count:6948 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:268800-337200	Weak transcription	Gastric	stomach
2	chr9:270600-312600	Weak transcription	Fetal Intestine Large	intestine
3	chr9:277400-303000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:282800-312000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr9:282800-320400	Strong transcription	Fetal Thymus	thymus
6	chr9:290000-311600	Weak transcription	Adipose Nuclei	Adipose
7	chr9:293000-308000	Strong transcription	Primary T cells from cord blood	blood
8	chr9:293800-312000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:295400-311800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:296600-308200	Strong transcription	Thymus	Thymus
11	chr9:297400-320200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr9:297600-305600	Weak transcription	K562	blood
13	chr9:297800-303200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr9:297800-304200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:297800-305800	Weak transcription	Spleen	Spleen
16	chr9:298000-303000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:298000-304200	Weak transcription	HMEC	breast
18	chr9:298000-304200	Weak transcription	NHEK	skin
19	chr9:298000-305600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:298000-310200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr9:298000-311600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr9:298400-304200	Weak transcription	Placenta	Placenta
23	chr9:298600-308600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr9:298600-320200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:298800-320200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr9:299000-303400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr9:299000-319000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr9:299200-302400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:299200-320200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr9:299400-316400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:299600-320200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr9:299600-320400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr9:299800-302800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:300000-303000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr9:300000-320200	Strong transcription	Primary B cells from cord blood	blood
36	chr9:300200-305000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr9:300600-302800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr9:300800-304600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr9:301200-303800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr9:301600-303600	Weak transcription	GM12878-XiMat	blood
41	chr9:301600-304000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr9:301800-303600	Weak transcription	Dnd41	blood
43	chr9:301800-305800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:302200-305000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr9:302400-303600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:302600-350200	Weak transcription	Small Intestine	intestine
47	chr9:302800-303400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr9:302800-308600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr9:303000-304000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr9:303000-304200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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