Variant report

Variant	nsv949533
Chromosome Location	chr9:584087-904106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4096)
CpG islands
(count:1342)
Chromatin interactive
region (count:129)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:4096 , 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	chr9:792615-792973	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:682346-683925	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:710020-710338	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:696723-696891	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:716213-716255	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:755679-756377	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:672953-673149	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:745817-746038	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:706038-706477	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:734845-735045	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:726050-726236	HepG2	liver:	n/a	n/a
12	ARID3A	chr9:613790-614724	HepG2	liver:	n/a	n/a
13	ARID3A	chr9:685087-685396	HepG2	liver:	n/a	n/a
14	ARID3A	chr9:764021-764430	HepG2	liver:	n/a	n/a
15	ARID3A	chr9:676651-678350	HepG2	liver:	n/a	n/a
16	ARID3A	chr9:592251-592433	HepG2	liver:	n/a	n/a
17	ARID3A	chr9:744770-744894	HepG2	liver:	n/a	n/a
18	ARID3A	chr9:706757-707182	HepG2	liver:	n/a	chr9:706927-706943
19	ARID3A	chr9:673768-674544	HepG2	liver:	n/a	n/a
20	ATF2	chr9:859288-859680	GM12878	blood:	n/a	n/a
21	ATF2	chr9:893794-894511	GM12878	blood:	n/a	n/a
22	ATF2	chr9:893752-894467	GM12878	blood:	n/a	n/a
23	ATF2	chr9:880645-881171	GM12878	blood:	n/a	n/a
24	ATF2	chr9:859161-859692	GM12878	blood:	n/a	n/a
25	ATF2	chr9:880676-881163	GM12878	blood:	n/a	n/a
26	ATF2	chr9:840342-840725	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr9:674115-674612	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr9:841437-841715	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr9:652937-653241	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr9:801698-801802	H1-hESC	embryonic stem cell:	n/a	chr9:801716-801730
31	BACH1	chr9:706737-707111	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr9:903869-904086	GM12878	blood:	n/a	n/a
33	BATF	chr9:800791-801012	GM12878	blood:	n/a	n/a
34	BATF	chr9:893858-894326	GM12878	blood:	n/a	n/a
35	BATF	chr9:893792-894397	GM12878	blood:	n/a	n/a
36	BATF	chr9:755709-756109	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
37	BATF	chr9:847504-847840	GM12878	blood:	n/a	n/a
38	BATF	chr9:808690-808887	GM12878	blood:	n/a	n/a
39	BATF	chr9:847470-847844	GM12878	blood:	n/a	n/a
40	BATF	chr9:755733-756053	GM12878	blood:	n/a	chr9:755945-755954 chr9:755850-755861
41	BCL11A	chr9:899392-899596	H1-hESC	embryonic stem cell:	n/a	n/a
42	BCL11A	chr9:880682-881185	GM12878	blood:	n/a	n/a
43	BCL11A	chr9:899421-899798	GM12878	blood:	n/a	n/a
44	BCL11A	chr9:859277-859643	GM12878	blood:	n/a	n/a
45	BCL11A	chr9:674131-674488	H1-hESC	embryonic stem cell:	n/a	n/a
46	BCL11A	chr9:893909-894335	GM12878	blood:	n/a	n/a
47	BCL11A	chr9:808677-809119	GM12878	blood:	n/a	n/a
48	BCL11A	chr9:893880-894376	GM12878	blood:	n/a	n/a
49	BCL11A	chr9:880773-881159	GM12878	blood:	n/a	n/a
50	BCL11A	chr9:903913-904168	GM12878	blood:	n/a	n/a

(count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:845427-845477	HIPEpiC	eye:	n/a
2	chr9:841632-841682	MCF10A-Er-Src	breast:	n/a
3	chr9:841850-841900	GM12892	blood:	n/a
4	chr9:826657-826707	HUVEC	blood vessel:	n/a
5	chr9:857563-857613	HAEpiC	amniotic membrane:	n/a
6	chr9:841632-841682	CMK	blood:	n/a
7	chr9:839557-839607	AoSMC	blood vessel:	n/a
8	chr9:839126-839176	NHBE	bronchial:	n/a
9	chr9:841559-841609	HCF	heart:	n/a
10	chr9:707387-707437	T-47D	breast:	n/a
11	chr9:841559-841609	SK-N-SH_RA	brain:	n/a
12	chr9:705143-705193	SAEC	small airway:	n/a
13	chr9:841850-841900	T-47D	breast:	n/a
14	chr9:842799-842849	HL-60	blood:	n/a
15	chr9:839557-839607	K562	blood:	n/a
16	chr9:842914-842964	HCM	heart:	n/a
17	chr9:845427-845477	PrEC	prostate:	n/a
18	chr9:842914-842964	AG09319	gingival:	n/a
19	chr9:842799-842849	HMEC	breast:	n/a
20	chr9:843748-843798	LNCaP	prostate:	n/a
21	chr9:899635-899685	HNPCEpiC	eye:	n/a
22	chr9:707166-707216	MCF-7	breast:	n/a
23	chr9:705143-705193	MCF10A-Er-Src	breast:	n/a
24	chr9:845427-845477	ECC-1	luminal epithelium:	n/a
25	chr9:707410-707460	PANC-1	pancreas:	n/a
26	chr9:841632-841682	HPAEpiC	pulmonary alveolar:	n/a
27	chr9:826657-826707	HCF	heart:	n/a
28	chr9:707410-707460	HRCEpiC	kidney:	n/a
29	chr9:842914-842964	HIPEpiC	eye:	n/a
30	chr9:841636-841686	HEK293	kidney:	embryo
31	chr9:707166-707216	HPAEpiC	pulmonary alveolar:	n/a
32	chr9:705143-705193	HepG2	liver:	n/a
33	chr9:842914-842964	AG09309	skin:	n/a
34	chr9:841850-841900	GM19239	blood:	n/a
35	chr9:707166-707216	NHDF-neo	bronchial:	n/a
36	chr9:841436-841486	SKMC	muscle:	n/a
37	chr9:841559-841609	HCT-116	colon:	n/a
38	chr9:826657-826707	HEK293	kidney:	embryo
39	chr9:845427-845477	ovcar-3	ovarian:	n/a
40	chr9:841436-841486	Hela-S3	cervix:	n/a
41	chr9:841559-841609	HRE	kidney:	n/a
42	chr9:707166-707216	HNPCEpiC	eye:	n/a
43	chr9:839126-839176	HNPCEpiC	eye:	n/a
44	chr9:707410-707460	ovcar-3	ovarian:	n/a
45	chr9:714269-714319	NHBE	bronchial:	n/a
46	chr9:826657-826707	HCPEpiC	choroid plexus:	n/a
47	chr9:857563-857613	GM06990	blood:	n/a
48	chr9:705143-705193	GM12892	blood:	n/a
49	chr9:843179-843229	GM12891	blood:	n/a
50	chr9:857563-857613	U87	brain:	n/a

(count:129 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:757453..760203-chr9:763946..765702,2	MCF-7	breast:
2	chr9:710784..713169-chr9:756222..759004,2	MCF-7	breast:
3	chr9:891599..892777-chr9:998523..999622,4	MCF-7	breast:
4	chr9:613026..614583-chr9:763698..764753,25	MCF-7	breast:
5	chr9:887794..889918-chr9:1005357..1008295,2	MCF-7	breast:
6	chr9:892287..894400-chr9:997529..999081,2	MCF-7	breast:
7	chr9:829461..831177-chr9:832230..834782,2	MCF-7	breast:
8	chr9:613586..614504-chr9:756894..758172,6	MCF-7	breast:
9	chr9:613348..614490-chr9:763793..765061,13	MCF-7	breast:
10	chr9:879356..881162-chr9:885762..888045,2	K562	blood:
11	chr9:845876..848526-chr9:868544..871068,2	MCF-7	breast:
12	chr9:852085..854136-chr9:910104..912950,2	K562	blood:
13	chr9:613714..614307-chr9:893592..894180,2	MCF-7	breast:
14	chr9:698899..701683-chr9:703340..705392,2	MCF-7	breast:
15	chr9:725965..727738-chr9:729421..731068,2	MCF-7	breast:
16	chr9:873202..875175-chr9:876431..878577,2	K562	blood:
17	chr9:707080..708925-chr9:715815..718212,3	MCF-7	breast:
18	chr9:385789..386423-chr9:612104..612846,2	K562	blood:
19	chr9:757453..760203-chr9:763946..765702,2	MCF-7	breast:
20	chr9:707320..708881-chr9:710200..712479,2	MCF-7	breast:
21	chr9:744945..746598-chr9:748652..750929,2	K562	blood:
22	chr9:892413..895344-chr9:995955..997519,2	MCF-7	breast:
23	chr9:613026..614583-chr9:763698..764753,25	MCF-7	breast:
24	chr9:707320..708881-chr9:710200..712479,2	MCF-7	breast:
25	chr9:640721..642302-chr9:644961..647354,2	K562	blood:
26	chr9:634722..638024-chr9:640128..643682,5	MCF-7	breast:
27	chr9:801986..804534-chr9:805350..807829,2	MCF-7	breast:
28	chr9:719690..721572-chr9:723182..726115,2	MCF-7	breast:
29	chr9:640721..642302-chr9:644961..647354,2	K562	blood:
30	chr9:706377..708156-chr9:805249..808005,2	MCF-7	breast:
31	chr9:875320..878036-chr9:881518..883087,2	MCF-7	breast:
32	chr9:763806..764607-chr9:806256..807153,5	MCF-7	breast:
33	chr9:891442..893609-chr9:898111..900604,2	MCF-7	breast:
34	chr9:763806..764607-chr9:806256..807153,5	MCF-7	breast:
35	chr9:891442..893609-chr9:898111..900604,2	MCF-7	breast:
36	chr9:710784..713169-chr9:756222..759004,2	MCF-7	breast:
37	chr9:581821..582545-chr9:807512..808214,2	MCF-7	breast:
38	chr9:893903..894431-chr9:1004790..1005383,2	K562	blood:
39	chr9:613586..614504-chr9:756894..758172,6	MCF-7	breast:
40	chr9:734184..736441-chr9:739422..741192,2	MCF-7	breast:
41	chr9:873202..875175-chr9:876431..878577,2	K562	blood:
42	chr10:14227179..14227880-chr9:613613..614133,4	MCF-7	breast:
43	chr9:581860..582832-chr9:613640..614518,3	MCF-7	breast:
44	chr9:801986..804534-chr9:805350..807829,2	MCF-7	breast:
45	chr9:709767..712435-chr9:740415..742459,2	MCF-7	breast:
46	chr9:892531..895372-chr9:1005273..1008806,3	MCF-7	breast:
47	chr9:582031..585321-chr9:586707..590039,3	K562	blood:
48	chr9:680963..683890-chr9:685859..688092,2	MCF-7	breast:
49	chr9:744945..746598-chr9:748652..750929,2	K562	blood:
50	chr9:843269..845393-chr9:851272..854140,2	MCF-7	breast:

(count:20 , 50 per page) page: 1

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

No data

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

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

Variant related genes	Relation type
DMRT1	TF binding region
ENSG00000227914	TF binding region
KANK1	TF binding region
ENSG00000229875	TF binding region
DMRT1	CpG island
ENSG00000227914	CpG island
KANK1	CpG island
ENSG00000229875	CpG island
ENSG00000108557	chromatin interactions
ENSG00000252991	chromatin interactions
ENSG00000107104	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000227914	chromatin interactions
ENSG00000064218	chromatin interactions
FAM123B	miRNA target sites
SOD2	miRNA target sites
PPM1A	miRNA target sites

Extended variants
information (count: 16580 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:16580 , 50 per page) page: 1 2 3 4 5 6 7 ... 332

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7028792	chr9:584087-584088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539623721	chr9:584095-584096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190556000	chr9:584106-584107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573448625	chr9:584147-584148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182329637	chr9:584173-584174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554503253	chr9:584190-584191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574479028	chr9:584191-584192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544800996	chr9:584193-584194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543580858	chr9:584223-584224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561277985	chr9:584255-584256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375028101	chr9:584256-584257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200387605	chr9:584258-584259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575233479	chr9:584260-584261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532373974	chr9:584288-584289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185292341	chr9:584304-584305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559399010	chr9:584323-584324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140950396	chr9:584335-584336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116519231	chr9:584347-584348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571389292	chr9:584441-584442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559222145	chr9:584447-584448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568482846	chr9:584493-584494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530799120	chr9:584503-584504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550690779	chr9:584504-584505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570584770	chr9:584510-584511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78509379	chr9:584528-584529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73376921	chr9:584581-584582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143196183	chr9:584592-584593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117484760	chr9:584600-584601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150909231	chr9:584617-584618	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189034088	chr9:584643-584644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543418387	chr9:584657-584658	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557112294	chr9:584658-584659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576974494	chr9:584662-584663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567310875	chr9:584670-584671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549183607	chr9:584699-584700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181419994	chr9:584736-584737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538636343	chr9:584740-584741	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377493956	chr9:584751-584752	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572946343	chr9:584752-584753	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542141856	chr9:584760-584761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111883482	chr9:584765-584766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561627760	chr9:584787-584788	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373056557	chr9:584817-584818	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550526100	chr9:584825-584826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564248351	chr9:584884-584885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185512753	chr9:584910-584911	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117745602	chr9:584911-584912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567090627	chr9:584912-584913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535653827	chr9:584917-584918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189926092	chr9:584938-584939	Weak transcription Strong transcription 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-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	21272361	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:6785 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:549800-593800	Weak transcription	Lung	lung
2	chr9:572000-589400	Weak transcription	Aorta	Aorta
3	chr9:572200-589800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:574400-589000	Weak transcription	Brain Substantia Nigra	brain
5	chr9:574600-584600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:574600-589400	Weak transcription	HMEC	breast
7	chr9:575200-589200	Weak transcription	Right Ventricle	heart
8	chr9:575400-587400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:579800-589200	Weak transcription	Brain Anterior Caudate	brain
10	chr9:581200-585200	Weak transcription	Fetal Stomach	stomach
11	chr9:581400-588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:581400-589600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr9:581400-591400	Weak transcription	Fetal Intestine Large	intestine
14	chr9:582000-589000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:582000-589400	Weak transcription	Esophagus	oesophagus
16	chr9:582000-591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:582200-584600	Weak transcription	Left Ventricle	heart
18	chr9:582200-587600	Weak transcription	Fetal Intestine Small	intestine
19	chr9:582200-589200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:582200-589200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:582400-589000	Weak transcription	Right Atrium	heart
22	chr9:582400-589400	Weak transcription	A549	lung
23	chr9:582600-589200	Weak transcription	Pancreas	Pancrea
24	chr9:582600-591400	Weak transcription	Gastric	stomach
25	chr9:582800-586400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:583000-588600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:583000-594400	Weak transcription	Fetal Kidney	kidney
28	chr9:583400-585200	Weak transcription	Fetal Heart	heart
29	chr9:584400-589600	Weak transcription	Stomach Mucosa	stomach
30	chr9:584600-585400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:584600-587000	Enhancers	Left Ventricle	heart
32	chr9:585200-589800	Enhancers	Fetal Heart	heart
33	chr9:585400-589200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:586400-587000	Enhancers	Small Intestine	intestine
35	chr9:586400-587200	Enhancers	Duodenum Mucosa	Duodenum
36	chr9:586600-586800	Enhancers	Ovary	ovary
37	chr9:586600-587200	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:586800-589200	Weak transcription	Ovary	ovary
39	chr9:587000-588600	Weak transcription	Small Intestine	intestine
40	chr9:587000-589200	Weak transcription	Left Ventricle	heart
41	chr9:587200-587400	Enhancers	Brain Hippocampus Middle	brain
42	chr9:587200-588200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr9:587400-587800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr9:587400-588800	Weak transcription	Brain Hippocampus Middle	brain
45	chr9:587600-588000	Enhancers	Fetal Intestine Small	intestine
46	chr9:587800-589200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr9:588000-588200	Weak transcription	Fetal Intestine Small	intestine
48	chr9:588200-588800	Enhancers	Fetal Intestine Small	intestine
49	chr9:588200-590600	Enhancers	Duodenum Mucosa	Duodenum
50	chr9:588400-588600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links