Variant report

Variant	esv2752307
Chromosome Location	chr9:382810-733212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4065)
CpG islands
(count:1101)
Chromatin interactive
region (count:126)
LncRNA
region (count:81)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4065 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:706038-706477	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:676651-678350	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:489187-489524	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:710020-710338	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:696723-696891	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:706757-707182	HepG2	liver:	n/a	chr9:706927-706943
7	ARID3A	chr9:685087-685396	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:504390-504746	K562	blood:	n/a	n/a
9	ARID3A	chr9:716213-716255	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:592251-592433	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:673768-674544	HepG2	liver:	n/a	n/a
12	ARID3A	chr9:463883-464115	HepG2	liver:	n/a	n/a
13	ARID3A	chr9:672953-673149	HepG2	liver:	n/a	n/a
14	ARID3A	chr9:495829-496174	HepG2	liver:	n/a	n/a
15	ARID3A	chr9:726050-726236	HepG2	liver:	n/a	n/a
16	ARID3A	chr9:613790-614724	HepG2	liver:	n/a	n/a
17	ARID3A	chr9:682346-683925	HepG2	liver:	n/a	n/a
18	ATF1	chr9:491995-492195	K562	blood:	n/a	n/a
19	ATF1	chr9:428430-428702	K562	blood:	n/a	n/a
20	ATF3	chr9:557723-558324	A549	lung:	n/a	n/a
21	BACH1	chr9:503882-504954	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr9:674115-674612	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr9:561382-561724	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr9:652937-653241	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr9:505331-505595	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr9:450112-450344	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr9:503516-503574	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr9:557912-558114	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr9:470546-470746	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr9:706737-707111	H1-hESC	embryonic stem cell:	n/a	n/a
31	BCL11A	chr9:674131-674488	H1-hESC	embryonic stem cell:	n/a	n/a
32	BCL11A	chr9:674204-674357	H1-hESC	embryonic stem cell:	n/a	n/a
33	BCL3	chr9:503842-504488	A549	lung:	n/a	chr9:504175-504184 chr9:504327-504340 chr9:504456-504469
34	BCL3	chr9:561269-561869	A549	lung:	n/a	n/a
35	BCL3	chr9:463755-464226	A549	lung:	n/a	n/a
36	BCL3	chr9:470157-470838	A549	lung:	n/a	n/a
37	BCL3	chr9:557812-558394	A549	lung:	n/a	n/a
38	BCL3	chr9:561341-561682	GM12878	blood:	n/a	n/a
39	BCL3	chr9:489067-489648	A549	lung:	n/a	n/a
40	BCL3	chr9:469817-470210	A549	lung:	n/a	chr9:470121-470130
41	BCL3	chr9:694616-695281	A549	lung:	n/a	n/a
42	BCLAF1	chr9:469741-470596	GM12878	blood:	n/a	chr9:470121-470130
43	BHLHE40	chr9:682623-683064	HepG2	liver:	n/a	n/a
44	BHLHE40	chr9:470231-470621	K562	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	chr9:567560-567673	GM12878	blood:	n/a	n/a
47	BHLHE40	chr9:546835-547287	K562	blood:	n/a	n/a
48	BHLHE40	chr9:706697-706897	GM12878	blood:	n/a	n/a
49	BHLHE40	chr9:469953-470590	GM12878	blood:	n/a	chr9:470115-470131
50	BHLHE40	chr9:629150-629515	GM12878	blood:	n/a	n/a

(count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:507411-507461	T-47D	breast:	n/a
2	chr9:707387-707437	HAEpiC	amniotic membrane:	n/a
3	chr9:426894-426944	H1-hESC	embryonic stem cell:	embryo
4	chr9:507411-507461	T-47D	breast:	n/a
5	chr9:707387-707437	HAEpiC	amniotic membrane:	n/a
6	chr9:426894-426944	H1-hESC	embryonic stem cell:	embryo
7	chr9:505235-505285	SK-N-SH_RA	brain:	n/a
8	chr9:470109-470159	HepG2	liver:	n/a
9	chr9:426894-426944	ProgFib	skin:	n/a
10	chr9:469777-469827	Caco-2	colon:	n/a
11	chr9:574312-574362	HNPCEpiC	eye:	n/a
12	chr9:503937-503987	AoSMC	blood vessel:	n/a
13	chr9:707166-707216	T-47D	breast:	n/a
14	chr9:707387-707437	HPAEpiC	pulmonary alveolar:	n/a
15	chr9:505235-505285	HNPCEpiC	eye:	n/a
16	chr9:714269-714319	HUVEC	blood vessel:	n/a
17	chr9:714269-714319	PrEC	prostate:	n/a
18	chr9:504774-504824	RPTEC	kidney:	n/a
19	chr9:472966-473016	SKMC	muscle:	n/a
20	chr9:472966-473016	NHDF-neo	bronchial:	n/a
21	chr9:505721-505771	BE2_C	brain:	n/a
22	chr9:469777-469827	HNPCEpiC	eye:	n/a
23	chr9:503937-503987	SAEC	small airway:	n/a
24	chr9:505571-505621	HCPEpiC	choroid plexus:	n/a
25	chr9:472966-473016	HNPCEpiC	eye:	n/a
26	chr9:705143-705193	GM12891	blood:	n/a
27	chr9:707387-707437	GM12891	blood:	n/a
28	chr9:707387-707437	PFSK-1	brain:	n/a
29	chr9:705143-705193	HCT-116	colon:	n/a
30	chr9:470323-470373	Jurkat	blood:	n/a
31	chr9:470109-470159	SK-N-SH	brain:	n/a
32	chr9:714269-714319	AG09319	gingival:	n/a
33	chr9:505235-505285	LNCaP	prostate:	n/a
34	chr9:471920-471970	ECC-1	luminal epithelium:	n/a
35	chr9:707387-707437	AG04450	lung:	fetal
36	chr9:504774-504824	HepG2	liver:	n/a
37	chr9:469777-469827	H1-hESC	embryonic stem cell:	embryo
38	chr9:505721-505771	AoSMC	blood vessel:	n/a
39	chr9:707410-707460	GM19239	blood:	n/a
40	chr9:471920-471970	AG09319	gingival:	n/a
41	chr9:707410-707460	AG04450	lung:	fetal
42	chr9:472966-473016	HEK293	kidney:	embryo
43	chr9:714269-714319	GM19239	blood:	n/a
44	chr9:471920-471970	PANC-1	pancreas:	n/a
45	chr9:505571-505621	PFSK-1	brain:	n/a
46	chr9:707410-707460	K562	blood:	n/a
47	chr9:707387-707437	SAEC	small airway:	n/a
48	chr9:505721-505771	GM12891	blood:	n/a
49	chr9:470109-470159	HCPEpiC	choroid plexus:	n/a
50	chr9:504774-504824	AG04450	lung:	fetal

(count:126 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:438728..443718-chr9:444221..448963,4	K562	blood:
2	chr9:581438..583645-chr9:586871..590074,4	MCF-7	breast:
3	chr9:438728..443718-chr9:444221..448963,4	K562	blood:
4	chr10:74033442..74034170-chr9:469881..470831,2	NB4	blood:
5	chr9:396391..399763-chr9:403196..405645,3	K562	blood:
6	chr9:518740..521510-chr9:531283..533605,2	MCF-7	breast:
7	chr9:490052..492255-chr9:502875..504712,2	MCF-7	breast:
8	chr9:698899..701683-chr9:703340..705392,2	MCF-7	breast:
9	chr9:469326..471004-chr9:547085..549851,2	MCF-7	breast:
10	chr9:555602..557901-chr9:561314..563396,2	K562	blood:
11	chr9:535330..537087-chr9:549296..551126,2	K562	blood:
12	chr12:21809676..21810203-chr9:455132..455632,2	NB4	blood:
13	chr9:719690..721572-chr9:723182..726115,2	MCF-7	breast:
14	chr9:530586..533539-chr9:534026..536380,2	MCF-7	breast:
15	chr9:470985..473419-chr9:489407..491415,2	MCF-7	breast:
16	chr9:396391..399763-chr9:403196..405645,3	K562	blood:
17	chr9:457391..459101-chr9:460366..462265,2	MCF-7	breast:
18	chr9:613586..614504-chr9:756894..758172,6	MCF-7	breast:
19	chr9:707320..708881-chr9:710200..712479,2	MCF-7	breast:
20	chr9:468933..471416-chr9:484729..487754,3	MCF-7	breast:
21	chr9:490052..492255-chr9:502875..504712,2	MCF-7	breast:
22	chr9:535330..537087-chr9:549296..551126,2	K562	blood:
23	chr9:686763..689090-chr9:692801..694616,2	MCF-7	breast:
24	chr9:469974..471479-chr9:511045..512830,2	K562	blood:
25	chr9:530586..533539-chr9:534026..536380,2	MCF-7	breast:
26	chr9:613569..614095-chr9:1100690..1101615,2	MCF-7	breast:
27	chr9:468995..471572-chr9:503851..506185,2	MCF-7	breast:
28	chr9:613714..614307-chr9:893592..894180,2	MCF-7	breast:
29	chr9:721333..724004-chr9:738366..740594,2	MCF-7	breast:
30	chr9:613348..614490-chr9:763793..765061,13	MCF-7	breast:
31	chr9:693477..696151-chr9:698863..701082,2	MCF-7	breast:
32	chr9:414319..416465-chr9:419585..421155,2	MCF-7	breast:
33	chr15:65809681..65810581-chr9:469632..470519,2	NB4	blood:
34	chr9:686763..689090-chr9:692801..694616,2	MCF-7	breast:
35	chr9:613650..614569-chr9:806256..807252,7	MCF-7	breast:
36	chr9:462619..465055-chr9:466811..469681,2	K562	blood:
37	chr9:385596..386468-chr9:546637..547164,2	MCF-7	breast:
38	chr9:697287..699295-chr9:705065..707332,2	K562	blood:
39	chr9:613541..614622-chr9:757205..758240,10	MCF-7	breast:
40	chr9:468995..471572-chr9:503851..506185,2	MCF-7	breast:
41	chr1:43147839..43148507-chr9:470046..470650,2	NB4	blood:
42	chr9:462619..465055-chr9:466811..469681,2	K562	blood:
43	chr9:725965..727738-chr9:729421..731068,2	MCF-7	breast:
44	chr9:680963..683890-chr9:685859..688092,2	MCF-7	breast:
45	chr10:14226157..14227663-chr9:613613..615133,2	K562	blood:
46	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
47	chr9:709767..712435-chr9:740415..742459,2	MCF-7	breast:
48	chr9:613644..614435-chr9:753933..755128,3	MCF-7	breast:
49	chr9:581649..582215-chr9:998516..999103,2	MCF-7	breast:
50	chr9:468830..470676-chr9:503247..506779,4	MCF-7	breast:

(count:81 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOCK8-2	chr9:549190-549531	ENSG00000226403.1
2	lnc-C9orf66-2	chr9:456530-456703	ENSG00000227155.3
3	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
4	lnc-C9orf66-2	chr9:459716-459815	ENSG00000227155.3
5	lnc-C9orf66-2	chr9:456204-456703	ENSG00000227155.3
6	lnc-C9orf66-2	chr9:466900-467336	ENSG00000227155.3
7	lnc-C9orf66-2	chr9:454576-454606	ENSG00000227155.3
8	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
9	lnc-DOCK8-1	chr9:495238-495610	ENSG00000228115.1
10	lnc-C9orf66-2	chr9:457004-457047	ENSG00000227155.3
11	lnc-C9orf66-2	chr9:454447-454606	ENSG00000227155.3
12	lnc-C9orf66-2	chr9:470765-470961	ENSG00000227155.3
13	lnc-C9orf66-2	chr9:456211-456703	ENSG00000227155.3
14	lnc-C9orf66-2	chr9:488957-489066	ENSG00000227155.3
15	lnc-DOCK8-5	chr9:471449-471586	NONHSAT129926
16	lnc-C9orf66-2	chr9:458117-458281	ENSG00000227155.3
17	lnc-C9orf66-3	chr9:673478-674379	ENSG00000227914.3
18	lnc-DOCK8-5	chr9:471467-471586	NONHSAT129927
19	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
20	lnc-C9orf66-2	chr9:456518-456703	ENSG00000227155.3
21	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
22	lnc-DOCK8-2	chr9:549107-549525	NONHSAT129931
23	lnc-DMRT1-3	chr9:659986-660326	NONHSAT129934
24	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
25	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
26	lnc-C9orf66-2	chr9:465962-466065	ENSG00000227155.3
27	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
28	lnc-C9orf66-2	chr9:458370-458423	ENSG00000227155.3
29	lnc-DOCK8-5	chr9:484282-484491	NONHSAT129926
30	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
31	lnc-C9orf66-2	chr9:456201-456358	ENSG00000227155.1
32	lnc-DOCK8-5	chr9:476628-476769	NONHSAT129927
33	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
34	lnc-DOCK8-2	chr9:547318-547341	ENSG00000226403.1
35	lnc-C9orf66-2	chr9:466688-466853	ENSG00000227155.3
36	lnc-C9orf66-2	chr9:456545-456703	ENSG00000227155.3
37	lnc-C9orf66-3	chr9:677542-677628	ENSG00000227914.3
38	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
39	lnc-C9orf66-7	chr9:503057-504746	NONHSAT129929
40	lnc-C9orf66-2	chr9:470765-470816	ENSG00000227155.3
41	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
42	lnc-DOCK8-2	chr9:547038-547341	NONHSAT129931
43	lnc-C9orf66-2	chr9:454457-454606	ENSG00000227155.3
44	lnc-C9orf66-2	chr9:454432-454606	ENSG00000227155.3
45	lnc-DOCK8-2	chr9:549107-549531	ENSG00000226403.1
46	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
47	lnc-DOCK8-1	chr9:487774-487803	ENSG00000228115.1
48	lnc-C9orf66-2	chr9:466688-467390	ENSG00000227155.3
49	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
50	lnc-C9orf66-2	chr9:456201-456988	ENSG00000227155.3

No data

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

Extended variants
information (count: 20040 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:20040 , 50 per page) page: 1 2 3 4 5 6 7 ... 401

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3739598	chr9:382810-382811	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552769748	chr9:382865-382866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566219362	chr9:382903-382904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143468603	chr9:382920-382921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4741840	chr9:382931-382932	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372691990	chr9:382934-382935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555572915	chr9:382946-382947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374397742	chr9:382951-382952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117877376	chr9:382963-382964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34416237	chr9:382983-382984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527520811	chr9:382988-382989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191024691	chr9:383004-383005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544285598	chr9:383022-383023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147977787	chr9:383023-383024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565120304	chr9:383068-383069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572250465	chr9:383072-383073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs33911070	chr9:383080-383081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386731380	chr9:383081-383082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540968884	chr9:383083-383084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141698122	chr9:383108-383109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7867007	chr9:383122-383123	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549835651	chr9:383175-383176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10973299	chr9:383193-383194	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577828496	chr9:383226-383227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139261754	chr9:383227-383228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143168805	chr9:383256-383257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543428079	chr9:383301-383302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534963432	chr9:383305-383306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564200358	chr9:383306-383307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548900577	chr9:383309-383310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549276394	chr9:383325-383326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4741841	chr9:383346-383347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183878653	chr9:383362-383363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371457848	chr9:383393-383394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569631994	chr9:383411-383412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10733485	chr9:383501-383502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557715109	chr9:383505-383506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558463256	chr9:383513-383514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367685239	chr9:383523-383524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10973311	chr9:383538-383539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10733486	chr9:383573-383574	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559942864	chr9:383612-383613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554466240	chr9:383648-383649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573359384	chr9:383649-383650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574424853	chr9:383651-383652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4741842	chr9:383661-383662	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563748814	chr9:383681-383682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151264851	chr9:383696-383697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111431951	chr9:383703-383704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546285455	chr9:383736-383737	Weak transcription 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
Lung cancer	18438408	CNVD
Autism	20531469	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
Schizophrenia	20967226	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-small cell lung cancer	16651412	CNVD
Cancer	21272361	CNVD

Chromatin state (count:8971 , 50 per page) page: 1 2 3 4 5 6 7 ... 180

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:322400-412200	Strong transcription	Primary T cells from cord blood	blood
2	chr9:322400-447000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:322400-467200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr9:322400-467200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr9:323600-467200	Strong transcription	Primary B cells from cord blood	blood
6	chr9:350400-411200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr9:351200-412400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr9:351200-446600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr9:352000-446600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr9:352200-411000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:357600-467000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:358000-444800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr9:360400-412200	Strong transcription	Fetal Thymus	thymus
14	chr9:360400-412400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr9:360600-410800	Strong transcription	Dnd41	blood
16	chr9:360600-412400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:360800-403600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr9:362000-409400	Strong transcription	Thymus	Thymus
19	chr9:362200-411000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:364600-384400	Strong transcription	GM12878-XiMat	blood
21	chr9:365200-383000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:365800-387000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr9:366000-383000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:366400-468400	Weak transcription	Small Intestine	intestine
25	chr9:367400-387200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr9:370800-408200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr9:371600-418600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:372400-383400	Strong transcription	Adipose Nuclei	Adipose
29	chr9:372400-420400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr9:372600-387600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr9:372600-402200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:374600-383200	Strong transcription	Spleen	Spleen
33	chr9:376600-383200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr9:376600-384400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr9:377000-386400	Weak transcription	K562	blood
36	chr9:377000-392400	Weak transcription	Fetal Intestine Small	intestine
37	chr9:377200-389800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:377200-392400	Weak transcription	Fetal Intestine Large	intestine
39	chr9:377400-390600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:377400-400800	Weak transcription	Colonic Mucosa	Colon
41	chr9:377800-389000	Weak transcription	Stomach Mucosa	stomach
42	chr9:378200-409400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr9:378600-410600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr9:378600-411000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr9:378600-420000	Weak transcription	Esophagus	oesophagus
46	chr9:379200-401000	Weak transcription	Fetal Muscle Leg	muscle
47	chr9:379800-437000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr9:380000-384200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr9:380000-386200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr9:380000-389800	Weak transcription	Fetal Stomach	stomach

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