Variant report

Variant	nsv1025677
Chromosome Location	chr9:534089-814330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3725)
CpG islands
(count:427)
Chromatin interactive
region (count:102)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:3725 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:696723-696891	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:726050-726236	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:682346-683925	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:676651-678350	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:706038-706477	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:716213-716255	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:745817-746038	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:734845-735045	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:592251-592433	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:744770-744894	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:613790-614724	HepG2	liver:	n/a	n/a
12	ARID3A	chr9:672953-673149	HepG2	liver:	n/a	n/a
13	ARID3A	chr9:706757-707182	HepG2	liver:	n/a	chr9:706927-706943
14	ARID3A	chr9:764021-764430	HepG2	liver:	n/a	n/a
15	ARID3A	chr9:673768-674544	HepG2	liver:	n/a	n/a
16	ARID3A	chr9:792615-792973	HepG2	liver:	n/a	n/a
17	ARID3A	chr9:710020-710338	HepG2	liver:	n/a	n/a
18	ARID3A	chr9:755679-756377	HepG2	liver:	n/a	n/a
19	ARID3A	chr9:685087-685396	HepG2	liver:	n/a	n/a
20	ATF3	chr9:557723-558324	A549	lung:	n/a	n/a
21	BACH1	chr9:674115-674612	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr9:801698-801802	H1-hESC	embryonic stem cell:	n/a	chr9:801716-801730
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	chr9:557912-558114	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr9:706737-707111	H1-hESC	embryonic stem cell:	n/a	n/a
27	BATF	chr9:755733-756053	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
28	BATF	chr9:800791-801012	GM12878	blood:	n/a	n/a
29	BATF	chr9:755709-756109	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
30	BATF	chr9:808690-808887	GM12878	blood:	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	BCL11A	chr9:808677-809119	GM12878	blood:	n/a	n/a
34	BCL3	chr9:561269-561869	A549	lung:	n/a	n/a
35	BCL3	chr9:561341-561682	GM12878	blood:	n/a	n/a
36	BCL3	chr9:557812-558394	A549	lung:	n/a	n/a
37	BCL3	chr9:694616-695281	A549	lung:	n/a	n/a
38	BHLHE40	chr9:734758-735070	HepG2	liver:	n/a	n/a
39	BHLHE40	chr9:682578-683474	HepG2	liver:	n/a	n/a
40	BHLHE40	chr9:755691-756354	HepG2	liver:	n/a	n/a
41	BHLHE40	chr9:614452-614687	HepG2	liver:	n/a	n/a
42	BHLHE40	chr9:761513-761762	HepG2	liver:	n/a	n/a
43	BHLHE40	chr9:546835-547287	K562	blood:	n/a	n/a
44	BHLHE40	chr9:682623-683064	HepG2	liver:	n/a	n/a
45	BHLHE40	chr9:629150-629515	GM12878	blood:	n/a	n/a
46	BHLHE40	chr9:567560-567673	GM12878	blood:	n/a	n/a
47	BHLHE40	chr9:706697-706897	GM12878	blood:	n/a	n/a
48	BHLHE40	chr9:694893-695215	A549	lung:	n/a	n/a
49	BRCA1	chr9:763966-764464	H1-hESC	embryonic stem cell:	n/a	n/a
50	BRCA1	chr9:756272-756352	HepG2	liver:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:761482-761532	SK-N-MC	brain:	n/a
2	chr9:761482-761532	Jurkat	blood:	n/a
3	chr9:761482-761532	HAEpiC	amniotic membrane:	n/a
4	chr9:761482-761532	HPAEpiC	pulmonary alveolar:	n/a
5	chr9:707166-707216	SK-N-SH	brain:	n/a
6	chr9:707387-707437	BE2_C	brain:	n/a
7	chr9:574312-574362	Hela-S3	cervix:	n/a
8	chr9:714269-714319	HCPEpiC	choroid plexus:	n/a
9	chr9:707410-707460	GM12892	blood:	n/a
10	chr9:714269-714319	AG04449	skin:	fetal
11	chr9:707387-707437	HIPEpiC	eye:	n/a
12	chr9:761482-761532	H1-hESC	embryonic stem cell:	embryo
13	chr9:714269-714319	HL-60	blood:	n/a
14	chr9:714269-714319	RPTEC	kidney:	n/a
15	chr9:707387-707437	HPAEpiC	pulmonary alveolar:	n/a
16	chr9:574312-574362	RPTEC	kidney:	n/a
17	chr9:574312-574362	PrEC	prostate:	n/a
18	chr9:705143-705193	NT2-D1	testis:	n/a
19	chr9:761482-761532	AG04449	skin:	fetal
20	chr9:574312-574362	HCM	heart:	n/a
21	chr9:574312-574362	CMK	blood:	n/a
22	chr9:707410-707460	MCF10A-Er-Src	breast:	n/a
23	chr9:574312-574362	LNCaP	prostate:	n/a
24	chr9:705143-705193	AG09309	skin:	n/a
25	chr9:705143-705193	HepG2	liver:	n/a
26	chr9:705143-705193	K562	blood:	n/a
27	chr9:707166-707216	GM12891	blood:	n/a
28	chr9:705143-705193	HL-60	blood:	n/a
29	chr9:707387-707437	ECC-1	luminal epithelium:	n/a
30	chr9:707387-707437	Caco-2	colon:	n/a
31	chr9:705143-705193	PFSK-1	brain:	n/a
32	chr9:761482-761532	NB4	blood:	n/a
33	chr9:707166-707216	SAEC	small airway:	n/a
34	chr9:574312-574362	NH-A	brain:	n/a
35	chr9:707166-707216	A549	lung:	n/a
36	chr9:574312-574362	NHBE	bronchial:	n/a
37	chr9:761482-761532	AG10803	skin:	n/a
38	chr9:707410-707460	H1-hESC	embryonic stem cell:	embryo
39	chr9:574312-574362	HRPEpiC	eye:	n/a
40	chr9:707387-707437	RPTEC	kidney:	n/a
41	chr9:707387-707437	GM12892	blood:	n/a
42	chr9:574312-574362	AG04450	lung:	fetal
43	chr9:761482-761532	AG09309	skin:	n/a
44	chr9:707166-707216	H1-hESC	embryonic stem cell:	embryo
45	chr9:761482-761532	GM19239	blood:	n/a
46	chr9:761482-761532	LNCaP	prostate:	n/a
47	chr9:707387-707437	AG04450	lung:	fetal
48	chr9:714269-714319	SK-N-SH	brain:	n/a
49	chr9:705143-705193	HRCEpiC	kidney:	n/a
50	chr9:707387-707437	HRCEpiC	kidney:	n/a

(count:102 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:686763..689090-chr9:692801..694616,2	MCF-7	breast:
2	chr9:680230..683179-chr9:683361..685450,2	MCF-7	breast:
3	chr9:581438..583645-chr9:586871..590074,4	MCF-7	breast:
4	chr9:555602..557901-chr9:561314..563396,2	K562	blood:
5	chr9:581168..581745-chr9:613579..614471,2	MCF-7	breast:
6	chr9:686763..689090-chr9:692801..694616,2	MCF-7	breast:
7	chr9:613569..614095-chr9:1100690..1101615,2	MCF-7	breast:
8	chr9:680963..683890-chr9:685859..688092,2	MCF-7	breast:
9	chr9:613714..614307-chr9:893592..894180,2	MCF-7	breast:
10	chr9:705245..708353-chr9:743847..747461,3	MCF-7	breast:
11	chr9:581821..582545-chr9:807512..808214,2	MCF-7	breast:
12	chr9:555602..557901-chr9:561314..563396,2	K562	blood:
13	chr9:698899..701683-chr9:703340..705392,2	MCF-7	breast:
14	chr8:128752586..128753455-chr9:706903..707668,2	NB4	blood:
15	chr9:385789..386423-chr9:612104..612846,2	K562	blood:
16	chr9:725965..727738-chr9:729421..731068,2	MCF-7	breast:
17	chr9:782884..784766-chr9:785783..787661,2	MCF-7	breast:
18	chr9:523311..524277-chr9:542856..543632,2	MCF-7	breast:
19	chr9:613541..614622-chr9:757205..758240,10	MCF-7	breast:
20	chr9:763938..764768-chr9:1004823..1005723,3	MCF-7	breast:
21	chr9:613814..614512-chr9:1017801..1018342,2	MCF-7	breast:
22	chr10:14227179..14227880-chr9:613613..614133,4	MCF-7	breast:
23	chr9:634722..638024-chr9:640128..643682,5	MCF-7	breast:
24	chr9:613650..614569-chr9:806256..807252,7	MCF-7	breast:
25	chr9:581649..582215-chr9:998516..999103,2	MCF-7	breast:
26	chr9:530586..533539-chr9:534026..536380,2	MCF-7	breast:
27	chr9:581860..582832-chr9:613640..614518,3	MCF-7	breast:
28	chr9:801986..804534-chr9:805350..807829,2	MCF-7	breast:
29	chr9:385596..386468-chr9:546637..547164,2	MCF-7	breast:
30	chr9:613348..614490-chr9:763793..765061,13	MCF-7	breast:
31	chr9:709767..712435-chr9:740415..742459,2	MCF-7	breast:
32	chr9:763806..764607-chr9:806256..807153,5	MCF-7	breast:
33	chr9:757453..760203-chr9:763946..765702,2	MCF-7	breast:
34	chr9:640721..642302-chr9:644961..647354,2	K562	blood:
35	chr9:613518..614436-chr9:806263..806822,2	MCF-7	breast:
36	chr9:535330..537087-chr9:549296..551126,2	K562	blood:
37	chr9:706307..708254-chr9:737100..740465,4	MCF-7	breast:
38	chr9:707080..708925-chr9:715815..718212,3	MCF-7	breast:
39	chr9:634722..638024-chr9:640128..643682,5	MCF-7	breast:
40	chr9:613026..614583-chr9:763698..764753,25	MCF-7	breast:
41	chr9:693477..696151-chr9:698863..701082,2	MCF-7	breast:
42	chr9:721333..724004-chr9:738366..740594,2	MCF-7	breast:
43	chr9:710784..713169-chr9:756222..759004,2	MCF-7	breast:
44	chr9:706377..708156-chr9:805249..808005,2	MCF-7	breast:
45	chr9:581821..582545-chr9:807512..808214,2	MCF-7	breast:
46	chr16:1239384..1239884-chr9:736833..737597,2	MCF-7	breast:
47	chr9:680963..683890-chr9:685859..688092,2	MCF-7	breast:
48	chr9:707080..708925-chr9:715815..718212,3	MCF-7	breast:
49	chr9:782884..784766-chr9:785783..787661,2	MCF-7	breast:
50	chr17:17584235..17586582-chr9:741151..743803,2	MCF-7	breast:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf66-5	chr9:755232-755507	XLOC_007629
2	lnc-C9orf66-4	chr9:747413-747469	XLOC_007628
3	lnc-KANK1-1	chr9:748000-751056	NONHSAT129937
4	lnc-C9orf66-5	chr9:752722-752856	XLOC_007629
5	lnc-DOCK8-2	chr9:547038-547341	NONHSAT129931
6	lnc-DOCK8-2	chr9:549107-549525	NONHSAT129931
7	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.1
8	lnc-DOCK8-2	chr9:547317-547341	ENSG00000226403.1
9	lnc-DMRT1-3	chr9:659986-660326	NONHSAT129934
10	lnc-C9orf66-3	chr9:680857-681046	ENSG00000227914.3
11	lnc-KANK1-1	chr9:746431-746497	NONHSAT129937
12	lnc-KANK1-1	chr9:747272-747365	NONHSAT129937
13	lnc-C9orf66-3	chr9:674124-674379	ENSG00000227914.3
14	lnc-C9orf66-3	chr9:680857-681046	ENSG00000227914.1
15	lnc-C9orf66-3	chr9:673478-674379	ENSG00000227914.3
16	lnc-C9orf66-4	chr9:749336-749509	XLOC_007628
17	lnc-KANK1-1	chr9:747412-747469	NONHSAT129937
18	lnc-DOCK8-2	chr9:547318-547341	ENSG00000226403.1
19	lnc-C9orf66-4	chr9:747413-747469	XLOC_007628
20	lnc-DOCK8-2	chr9:549190-549531	ENSG00000226403.1
21	lnc-C9orf66-4	chr9:749336-749496	XLOC_007628
22	lnc-C9orf66-3	chr9:685528-685555	ENSG00000227914.3
23	lnc-C9orf66-4	chr9:761299-761551	XLOC_007628
24	lnc-C9orf66-3	chr9:677542-677628	ENSG00000227914.3
25	lnc-C9orf66-3	chr9:673817-674379	ENSG00000227914.1
26	lnc-DOCK8-2	chr9:549107-549531	ENSG00000226403.1

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KANK1	hsa-miR-124-3p	chr9:746043-746062
2	KANK1	hsa-miR-335-5p	chr9:746049-746071
3	KANK1	hsa-miR-10a-5p	chr9:745092-745115
4	KANK1	hsa-miR-124-3p	chr9:746055-746062
5	KANK1	hsa-miR-335-5p	chr9:746085-746104

Variant related genes	Relation type
ENSG00000226403	TF binding region
RNU6-1327P	TF binding region
ENSG00000227914	TF binding region
KANK1	TF binding region
ENSG00000229875	TF binding region
ENSG00000226403	CpG island
RNU6-1327P	CpG island
ENSG00000227914	CpG island
KANK1	CpG island
ENSG00000229875	CpG island
ENSG00000227914	chromatin interactions
ENSG00000108557	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000107104	chromatin interactions
PPM1A	miRNA target sites
SOD2	miRNA target sites
FAM123B	miRNA target sites

Extended variants
information (count: 16221 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:16221 , 50 per page) page: 1 2 3 4 5 6 7 ... 325

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539869034	chr9:534128-534129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568054543	chr9:534173-534174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368608987	chr9:534222-534223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139144845	chr9:534238-534239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149876404	chr9:534239-534240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576592505	chr9:534248-534249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386731407	chr9:534258-534259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6476954	chr9:534259-534260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377143631	chr9:534270-534271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367976329	chr9:534273-534274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144960777	chr9:534314-534315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562071017	chr9:534318-534319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9407298	chr9:534324-534325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs555610499	chr9:534344-534345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544687711	chr9:534349-534350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148630199	chr9:534379-534380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533552552	chr9:534388-534389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538958326	chr9:534423-534424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547246560	chr9:534458-534459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142410794	chr9:534463-534464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78372063	chr9:534478-534479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549421220	chr9:534479-534480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568003402	chr9:534502-534503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74576880	chr9:534504-534505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188927977	chr9:534521-534522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192502123	chr9:534533-534534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539245182	chr9:534536-534537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552787296	chr9:534537-534538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572958932	chr9:534541-534542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535692803	chr9:534543-534544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147918566	chr9:534546-534547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544434914	chr9:534568-534569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557864393	chr9:534585-534586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs59746366	chr9:534588-534589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544654715	chr9:534623-534624	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75177426	chr9:534678-534679	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs578180707	chr9:534707-534708	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12338448	chr9:534759-534760	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183042836	chr9:534770-534771	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542224910	chr9:534793-534794	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560696308	chr9:534815-534816	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529468544	chr9:534830-534831	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549625937	chr9:534837-534838	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187378856	chr9:534839-534840	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373920248	chr9:534882-534883	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530401785	chr9:534914-534915	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34283636	chr9:534927-534928	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550207016	chr9:534930-534931	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570202516	chr9:534932-534933	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141861281	chr9:534937-534938	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-small cell lung cancer	16651412	CNVD
Cancer	21272361	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:7509 , 50 per page) page: 1 2 3 4 5 6 7 ... 151

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:520600-535000	Weak transcription	Gastric	stomach
2	chr9:523800-535000	Weak transcription	Lung	lung
3	chr9:526400-535000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:527600-534800	Weak transcription	Psoas Muscle	Psoas
5	chr9:527600-535000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:528000-537400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr9:530000-535000	Weak transcription	Ovary	ovary
8	chr9:530600-534600	Enhancers	Brain Hippocampus Middle	brain
9	chr9:530600-535200	Enhancers	Brain Cingulate Gyrus	brain
10	chr9:530800-535200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr9:530800-538400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:531200-534800	Enhancers	Brain Substantia Nigra	brain
13	chr9:531200-538000	Enhancers	Brain Anterior Caudate	brain
14	chr9:531400-535000	Weak transcription	Left Ventricle	heart
15	chr9:531400-535200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:531400-546400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:531600-534400	Weak transcription	NHEK	skin
18	chr9:531600-535000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr9:531600-535800	Enhancers	Brain Angular Gyrus	brain
20	chr9:531800-535400	Enhancers	Fetal Lung	lung
21	chr9:532000-535000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:532000-535200	Weak transcription	Aorta	Aorta
23	chr9:532000-535200	Enhancers	Fetal Heart	heart
24	chr9:532000-535200	Weak transcription	Right Ventricle	heart
25	chr9:532000-538600	Enhancers	Fetal Muscle Leg	muscle
26	chr9:532400-535600	Enhancers	Fetal Intestine Large	intestine
27	chr9:532400-538400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:532600-535400	Enhancers	Fetal Intestine Small	intestine
29	chr9:532800-534400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:532800-534400	Enhancers	Stomach Mucosa	stomach
31	chr9:532800-535600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:532800-535600	Enhancers	Duodenum Mucosa	Duodenum
33	chr9:532800-538400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr9:533000-534200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr9:533000-534800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr9:533000-535800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:533200-534200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:533200-534600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:533200-534800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr9:533200-537000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr9:533400-534200	Enhancers	Right Atrium	heart
42	chr9:533400-534400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:533400-534600	Weak transcription	Colon Smooth Muscle	Colon
44	chr9:533400-536800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr9:533400-537000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:533400-540000	Weak transcription	A549	lung
47	chr9:533600-534400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:533600-534400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:533600-535000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr9:533600-536000	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links