Variant report

Variant	nsv1016589
Chromosome Location	chr9:304385-730233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4789)
CpG islands
(count:1098)
Chromatin interactive
region (count:153)
LncRNA
region (count:81)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4789 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:613790-614724	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:685087-685396	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:710020-710338	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:336046-336405	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:371491-371553	K562	blood:	n/a	n/a
6	ARID3A	chr9:676651-678350	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:706038-706477	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:672953-673149	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:495829-496174	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:489187-489524	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:463883-464115	HepG2	liver:	n/a	n/a
12	ARID3A	chr9:696723-696891	HepG2	liver:	n/a	n/a
13	ARID3A	chr9:716213-716255	HepG2	liver:	n/a	n/a
14	ARID3A	chr9:673768-674544	HepG2	liver:	n/a	n/a
15	ARID3A	chr9:726050-726236	HepG2	liver:	n/a	n/a
16	ARID3A	chr9:592251-592433	HepG2	liver:	n/a	n/a
17	ARID3A	chr9:504390-504746	K562	blood:	n/a	n/a
18	ARID3A	chr9:706757-707182	HepG2	liver:	n/a	chr9:706927-706943
19	ARID3A	chr9:682346-683925	HepG2	liver:	n/a	n/a
20	ATF1	chr9:312958-313372	K562	blood:	n/a	n/a
21	ATF1	chr9:491995-492195	K562	blood:	n/a	n/a
22	ATF1	chr9:428430-428702	K562	blood:	n/a	n/a
23	ATF3	chr9:326568-327022	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr9:557723-558324	A549	lung:	n/a	n/a
25	BACH1	chr9:503882-504954	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr9:706737-707111	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr9:652937-653241	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr9:561382-561724	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr9:505331-505595	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr9:503516-503574	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr9:674115-674612	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr9:470546-470746	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr9:557912-558114	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr9:450112-450344	H1-hESC	embryonic stem cell:	n/a	n/a
35	BCL11A	chr9:674131-674488	H1-hESC	embryonic stem cell:	n/a	n/a
36	BCL11A	chr9:674204-674357	H1-hESC	embryonic stem cell:	n/a	n/a
37	BCL11A	chr9:331212-331567	H1-hESC	embryonic stem cell:	n/a	n/a
38	BCL3	chr9:470157-470838	A549	lung:	n/a	n/a
39	BCL3	chr9:469817-470210	A549	lung:	n/a	chr9:470121-470130
40	BCL3	chr9:557812-558394	A549	lung:	n/a	n/a
41	BCL3	chr9:503842-504488	A549	lung:	n/a	chr9:504175-504184 chr9:504327-504340 chr9:504456-504469
42	BCL3	chr9:463755-464226	A549	lung:	n/a	n/a
43	BCL3	chr9:561269-561869	A549	lung:	n/a	n/a
44	BCL3	chr9:561341-561682	GM12878	blood:	n/a	n/a
45	BCL3	chr9:489067-489648	A549	lung:	n/a	n/a
46	BCL3	chr9:694616-695281	A549	lung:	n/a	n/a
47	BCLAF1	chr9:307023-307293	GM12878	blood:	n/a	n/a
48	BCLAF1	chr9:469741-470596	GM12878	blood:	n/a	chr9:470121-470130
49	BHLHE40	chr9:470898-470911	GM12878	blood:	n/a	n/a
50	BHLHE40	chr9:694893-695215	A549	lung:	n/a	n/a

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:707387-707437	HIPEpiC	eye:	n/a
2	chr9:471920-471970	SKMC	muscle:	n/a
3	chr9:505571-505621	NHDF-neo	bronchial:	n/a
4	chr9:507411-507461	HL-60	blood:	n/a
5	chr9:505235-505285	RPTEC	kidney:	n/a
6	chr9:426894-426944	HRE	kidney:	n/a
7	chr9:470323-470373	HRE	kidney:	n/a
8	chr9:714269-714319	BJ	skin:	n/a
9	chr9:707410-707460	GM12878	blood:	n/a
10	chr9:469777-469827	NHBE	bronchial:	n/a
11	chr9:503937-503987	LNCaP	prostate:	n/a
12	chr9:471920-471970	AG10803	skin:	n/a
13	chr9:471920-471970	PrEC	prostate:	n/a
14	chr9:503937-503987	HCPEpiC	choroid plexus:	n/a
15	chr9:505721-505771	NT2-D1	testis:	n/a
16	chr9:714269-714319	PFSK-1	brain:	n/a
17	chr9:505235-505285	CMK	blood:	n/a
18	chr9:505571-505621	T-47D	breast:	n/a
19	chr9:707166-707216	RPTEC	kidney:	n/a
20	chr9:714269-714319	AG10803	skin:	n/a
21	chr9:707387-707437	Hela-S3	cervix:	n/a
22	chr9:472966-473016	SK-N-SH	brain:	n/a
23	chr9:470323-470373	ProgFib	skin:	n/a
24	chr9:503937-503987	BJ	skin:	n/a
25	chr9:707166-707216	HAEpiC	amniotic membrane:	n/a
26	chr9:505235-505285	HAEpiC	amniotic membrane:	n/a
27	chr9:707410-707460	AG04450	lung:	fetal
28	chr9:426894-426944	NT2-D1	testis:	n/a
29	chr9:707410-707460	HRE	kidney:	n/a
30	chr9:505571-505621	HUVEC	blood vessel:	n/a
31	chr9:705143-705193	HEK293	kidney:	embryo
32	chr9:471920-471970	IMR90	lung:	fetal
33	chr9:707387-707437	AG04450	lung:	fetal
34	chr9:707166-707216	AG10803	skin:	n/a
35	chr9:705143-705193	MCF10A-Er-Src	breast:	n/a
36	chr9:707387-707437	ECC-1	luminal epithelium:	n/a
37	chr9:707166-707216	LNCaP	prostate:	n/a
38	chr9:505235-505285	SAEC	small airway:	n/a
39	chr9:504774-504824	U87	brain:	n/a
40	chr9:505571-505621	HRPEpiC	eye:	n/a
41	chr9:503937-503987	SKMC	muscle:	n/a
42	chr9:714269-714319	HIPEpiC	eye:	n/a
43	chr9:505235-505285	HEEpiC	esophagus:	n/a
44	chr9:470323-470373	NH-A	brain:	n/a
45	chr9:707410-707460	HEK293	kidney:	embryo
46	chr9:707387-707437	SAEC	small airway:	n/a
47	chr9:705143-705193	HIPEpiC	eye:	n/a
48	chr9:505235-505285	MCF-7	breast:	n/a
49	chr9:705143-705193	Hepatocyte	liver:	n/a
50	chr9:505571-505621	IMR90	lung:	fetal

(count:153 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
2	chr9:680230..683179-chr9:683361..685450,2	MCF-7	breast:
3	chr9:707320..708881-chr9:710200..712479,2	MCF-7	breast:
4	chr9:698899..701683-chr9:703340..705392,2	MCF-7	breast:
5	chr9:347477..348464-chr9:378346..378946,4	MCF-7	breast:
6	chr9:680963..683890-chr9:685859..688092,2	MCF-7	breast:
7	chr9:468830..470676-chr9:503247..506779,4	MCF-7	breast:
8	chr9:613026..614583-chr9:763698..764753,25	MCF-7	breast:
9	chr9:347951..349550-chr9:363997..366575,2	MCF-7	breast:
10	chr9:500269..502662-chr9:502681..505040,2	MCF-7	breast:
11	chr9:634722..638024-chr9:640128..643682,5	MCF-7	breast:
12	chr9:613569..614095-chr9:1100690..1101615,2	MCF-7	breast:
13	chr9:387700..389795-chr9:395557..397565,2	MCF-7	breast:
14	chr9:530586..533539-chr9:534026..536380,2	MCF-7	breast:
15	chr9:523311..524277-chr9:542856..543632,2	MCF-7	breast:
16	chr9:581168..581745-chr9:613579..614471,2	MCF-7	breast:
17	chr9:581438..583645-chr9:586871..590074,4	MCF-7	breast:
18	chr9:707320..708881-chr9:710200..712479,2	MCF-7	breast:
19	chr9:441366..444017-chr9:451304..454209,2	MCF-7	breast:
20	chr9:396391..399763-chr9:403196..405645,3	K562	blood:
21	chr9:710784..713169-chr9:756222..759004,2	MCF-7	breast:
22	chr9:213452..215018-chr9:305580..307976,2	K562	blood:
23	chr9:555602..557901-chr9:561314..563396,2	K562	blood:
24	chr9:385679..386467-chr9:459526..460401,4	MCF-7	breast:
25	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
26	chr9:613348..614490-chr9:763793..765061,13	MCF-7	breast:
27	chr9:680963..683890-chr9:685859..688092,2	MCF-7	breast:
28	chr9:581821..582545-chr9:807512..808214,2	MCF-7	breast:
29	chr9:347287..349476-chr9:362112..363970,2	MCF-7	breast:
30	chr9:454476..456616-chr9:461041..463916,2	MCF-7	breast:
31	chr9:468933..471416-chr9:484729..487754,3	MCF-7	breast:
32	chr9:414319..416465-chr9:419585..421155,2	MCF-7	breast:
33	chr9:581769..582694-chr9:763829..764743,4	MCF-7	breast:
34	chr9:704209..707068-chr9:719899..721523,2	MCF-7	breast:
35	chr9:213518..215162-chr9:305580..308186,2	K562	blood:
36	chr9:469030..473266-chr9:476113..479118,4	MCF-7	breast:
37	chr9:613518..614436-chr9:806263..806822,2	MCF-7	breast:
38	chr1:23494875..23495400-chr9:469098..469749,2	NB4	blood:
39	chr9:487771..490019-chr9:514331..516293,2	MCF-7	breast:
40	chr9:698899..701683-chr9:703340..705392,2	MCF-7	breast:
41	chr9:347477..348464-chr9:378346..378946,4	MCF-7	breast:
42	chr9:640721..642302-chr9:644961..647354,2	K562	blood:
43	chr9:680230..683179-chr9:683361..685450,2	MCF-7	breast:
44	chr9:396391..399763-chr9:403196..405645,3	K562	blood:
45	chr9:468995..471572-chr9:503851..506185,2	MCF-7	breast:
46	chr9:490052..492255-chr9:502875..504712,2	MCF-7	breast:
47	chr9:385789..386423-chr9:612104..612846,2	K562	blood:
48	chr9:318530..320927-chr9:322721..325349,2	K562	blood:
49	chr10:14226157..14227663-chr9:613613..615133,2	K562	blood:
50	chr9:634722..638024-chr9:640128..643682,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf66-2	chr9:457004-457047	ENSG00000227155.3
2	lnc-DOCK8-5	chr9:470592-470677	NONHSAT129926
3	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
4	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
5	lnc-C9orf66-2	chr9:470765-470934	ENSG00000227155.3
6	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
7	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
8	lnc-C9orf66-2	chr9:454457-454606	ENSG00000227155.3
9	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
10	lnc-C9orf66-2	chr9:470765-470961	ENSG00000227155.3
11	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
12	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.3
13	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
14	lnc-C9orf66-2	chr9:456521-456703	ENSG00000227155.3
15	lnc-C9orf66-2	chr9:454576-454606	ENSG00000227155.3
16	lnc-DOCK8-1	chr9:487774-487803	ENSG00000228115.1
17	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
18	lnc-C9orf66-3	chr9:680857-681046	ENSG00000227914.3
19	lnc-DOCK8-2	chr9:549107-549525	NONHSAT129931
20	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
21	lnc-C9orf66-2	chr9:458117-458281	ENSG00000227155.3
22	lnc-C9orf66-2	chr9:454585-454606	ENSG00000227155.3
23	lnc-DOCK8-2	chr9:547317-547341	ENSG00000226403.1
24	lnc-C9orf66-2	chr9:459716-459815	ENSG00000227155.3
25	lnc-C9orf66-3	chr9:673817-674379	ENSG00000227914.1
26	lnc-C9orf66-2	chr9:456211-456703	ENSG00000227155.3
27	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.1
28	lnc-C9orf66-8	chr9:507258-507553	NONHSAT129930
29	lnc-DOCK8-5	chr9:484282-484491	NONHSAT129926
30	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
31	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
32	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.3
33	lnc-DMRT1-3	chr9:659986-660326	NONHSAT129934
34	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.1
35	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129927
36	lnc-C9orf66-2	chr9:456204-456703	ENSG00000227155.3
37	lnc-C9orf66-2	chr9:488957-489066	ENSG00000227155.3
38	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
39	lnc-C9orf66-2	chr9:466688-467390	ENSG00000227155.3
40	lnc-C9orf66-2	chr9:470765-470816	ENSG00000227155.3
41	lnc-DOCK8-5	chr9:476628-476769	NONHSAT129927
42	lnc-C9orf66-3	chr9:680857-681046	ENSG00000227914.1
43	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
44	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129926
45	lnc-C9orf66-2	chr9:492084-492112	ENSG00000227155.3
46	lnc-C9orf66-2	chr9:456201-456988	ENSG00000227155.3
47	lnc-C9orf66-3	chr9:673478-674379	ENSG00000227914.3
48	lnc-C9orf66-2	chr9:465962-466065	ENSG00000227155.3
49	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
50	lnc-DOCK8-2	chr9:549190-549531	ENSG00000226403.1

No data

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

Extended variants
information (count: 24205 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:24205 , 50 per page) page: 1 2 3 4 5 6 7 ... 485

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544417971	chr9:304396-304397	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs2296820	chr9:304428-304429	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs143230084	chr9:304444-304445	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs188626157	chr9:304450-304451	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs76033674	chr9:304451-304452	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs17664919	chr9:304478-304479	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs16926513	chr9:304486-304487	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569359123	chr9:304496-304497	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs372695131	chr9:304531-304532	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs140538435	chr9:304532-304533	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs377331103	chr9:304533-304534	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370653969	chr9:304540-304541	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs551965208	chr9:304552-304553	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs375133002	chr9:304557-304558	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs534222993	chr9:304577-304578	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs547730018	chr9:304587-304588	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs377658939	chr9:304591-304592	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs566120642	chr9:304597-304598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs535468013	chr9:304612-304613	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149918318	chr9:304628-304629	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs575314722	chr9:304646-304647	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370904615	chr9:304647-304648	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542942121	chr9:304648-304649	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs537605467	chr9:304652-304653	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs375091035	chr9:304653-304654	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs368835870	chr9:304661-304662	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs146490788	chr9:304670-304671	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557936536	chr9:304695-304696	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114833839	chr9:304711-304712	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs116483820	chr9:304717-304718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs371698979	chr9:304739-304740	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs560474909	chr9:304740-304741	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs13292474	chr9:304769-304770	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs114050848	chr9:304791-304792	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs562805926	chr9:304796-304797	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs115781091	chr9:304797-304798	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145403601	chr9:304800-304801	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368722500	chr9:304842-304843	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs565134097	chr9:304852-304853	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs376602347	chr9:304887-304888	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs189328245	chr9:304897-304898	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs533055257	chr9:304900-304901	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567641189	chr9:304926-304927	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs34148592	chr9:304943-304944	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs373039709	chr9:304944-304945	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs78934788	chr9:304945-304946	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs398096229	chr9:304947-304948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs13288618	chr9:304957-304958	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs146906092	chr9:304966-304967	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs61121278	chr9:304974-304975	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:9765 , 50 per page) page: 1 2 3 4 5 6 7 ... 196

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	chr9:282800-312000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr9:282800-320400	Strong transcription	Fetal Thymus	thymus
5	chr9:290000-311600	Weak transcription	Adipose Nuclei	Adipose
6	chr9:293000-308000	Strong transcription	Primary T cells from cord blood	blood
7	chr9:293800-312000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:295400-311800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:296600-308200	Strong transcription	Thymus	Thymus
10	chr9:297400-320200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr9:297600-305600	Weak transcription	K562	blood
12	chr9:297800-305800	Weak transcription	Spleen	Spleen
13	chr9:298000-305600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:298000-310200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr9:298000-311600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:298600-308600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr9:298600-320200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr9:298800-320200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr9:299000-319000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr9:299200-320200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr9:299400-316400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:299600-320200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr9:299600-320400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr9:300000-320200	Strong transcription	Primary B cells from cord blood	blood
25	chr9:300200-305000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr9:300800-304600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr9:301800-305800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:302200-305000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr9:302600-350200	Weak transcription	Small Intestine	intestine
30	chr9:302800-308600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr9:303600-308000	Strong transcription	Dnd41	blood
32	chr9:303600-308000	Strong transcription	GM12878-XiMat	blood
33	chr9:303600-316000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:303800-305800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr9:303800-308200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:303800-320400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr9:304000-305200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:304000-305200	Enhancers	Colon Smooth Muscle	Colon
39	chr9:304000-315800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr9:304200-304400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr9:304200-304400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr9:304200-304400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:304200-304400	Flanking Active TSS	Placenta	Placenta
44	chr9:304200-304600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:304200-304600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:304200-304600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr9:304200-304800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr9:304200-304800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:304200-305000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:304200-305000	Genic enhancers	Primary T cells fromperipheralblood	blood

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