Variant report

Variant	nsv972792
Chromosome Location	chr9:100460351-100466365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:100465341-100466474	HepG2	liver:	n/a	n/a
2	ATF1	chr9:100466099-100466541	K562	blood:	n/a	n/a
3	BATF	chr9:100466090-100466316	GM12878	blood:	n/a	n/a
4	BATF	chr9:100466015-100466555	GM12878	blood:	n/a	n/a
5	BATF	chr9:100466324-100466615	GM12878	blood:	n/a	n/a
6	BHLHE40	chr9:100466162-100466750	GM12878	blood:	n/a	n/a
7	BHLHE40	chr9:100466050-100466375	HepG2	liver:	n/a	n/a
8	BRCA1	chr9:100466045-100466629	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr9:100465768-100466945	HCT-116	colon:	n/a	n/a
10	CEBPB	chr9:100465731-100466071	HepG2	liver:	n/a	chr9:100465857-100465868 chr9:100465856-100465869
11	CEBPB	chr9:100465892-100466853	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr9:100465795-100466658	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr9:100466158-100466730	GM12878	blood:	n/a	n/a
14	CTCF	chr9:100462766-100463025	K562	blood:	n/a	n/a
15	CTCF	chr9:100466120-100466270	HBMEC	blood vessel:	n/a	n/a
16	E2F4	chr9:100464560-100464706	MCF10A-Er-Src	breast:	n/a	n/a
17	EBF1	chr9:100465957-100466841	GM12878	blood:	n/a	chr9:100466612-100466623
18	EBF1	chr9:100465990-100466283	GM12878	blood:	n/a	n/a
19	EBF1	chr9:100465992-100466288	GM12878	blood:	n/a	n/a
20	EBF1	chr9:100464321-100464574	GM12878	blood:	n/a	n/a
21	EP300	chr9:100466274-100466646	SK-N-SH_RA	brain:	n/a	chr9:100466583-100466597
22	EP300	chr9:100465456-100466042	HepG2	liver:	n/a	n/a
23	EP300	chr9:100466302-100466814	SK-N-SH_RA	brain:	n/a	chr9:100466583-100466597
24	EP300	chr9:100466137-100466215	GM12878	blood:	n/a	chr9:100466195-100466204 chr9:100466196-100466205
25	EP300	chr9:100465987-100466843	GM12878	blood:	n/a	chr9:100466195-100466204 chr9:100466196-100466205 chr9:100466583-100466597
26	EP300	chr9:100466002-100466787	Hela-S3	cervix:	n/a	chr9:100466195-100466204 chr9:100466196-100466205 chr9:100466583-100466597
27	EP300	chr9:100466074-100466676	GM12878	blood:	n/a	chr9:100466195-100466204 chr9:100466196-100466205 chr9:100466583-100466597
28	FOS	chr9:100465901-100466766	MCF10A-Er-Src	breast:	n/a	chr9:100466197-100466204 chr9:100466194-100466205 chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466196-100466205 chr9:100466508-100466517
29	FOS	chr9:100465944-100466766	MCF10A-Er-Src	breast:	n/a	chr9:100466197-100466204 chr9:100466194-100466205 chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466196-100466205 chr9:100466508-100466517
30	FOS	chr9:100466017-100466702	MCF10A-Er-Src	breast:	n/a	chr9:100466197-100466204 chr9:100466194-100466205 chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466196-100466205 chr9:100466508-100466517
31	FOS	chr9:100466062-100466681	Hela-S3	cervix:	n/a	chr9:100466197-100466204 chr9:100466194-100466205 chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466196-100466205 chr9:100466508-100466517
32	FOS	chr9:100466003-100466813	HUVEC	blood vessel:	n/a	chr9:100466197-100466204 chr9:100466194-100466205 chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466196-100466205 chr9:100466508-100466517
33	FOS	chr9:100466010-100466822	MCF10A-Er-Src	breast:	n/a	chr9:100466197-100466204 chr9:100466194-100466205 chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466811-100466820 chr9:100466196-100466205 chr9:100466508-100466517
34	FOSL1	chr9:100465788-100466928	HCT-116	colon:	n/a	chr9:100466197-100466204 chr9:100466507-100466519 chr9:100466507-100466518 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466811-100466820 chr9:100466196-100466205 chr9:100466508-100466517
35	FOSL1	chr9:100465838-100466986	HCT-116	colon:	n/a	chr9:100466197-100466204 chr9:100466507-100466519 chr9:100466507-100466518 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466811-100466820 chr9:100466196-100466205 chr9:100466508-100466517
36	FOSL1	chr9:100466006-100466705	K562	blood:	n/a	chr9:100466197-100466204 chr9:100466507-100466519 chr9:100466507-100466518 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466196-100466205 chr9:100466508-100466517
37	FOSL2	chr9:100466350-100466653	A549	lung:	n/a	chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466507-100466518 chr9:100466508-100466517
38	FOSL2	chr9:100465892-100466842	SK-N-SH	brain:	n/a	chr9:100466197-100466204 chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466811-100466820 chr9:100466196-100466205 chr9:100466508-100466517
39	FOSL2	chr9:100465960-100466682	HepG2	liver:	n/a	chr9:100466197-100466204 chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466196-100466205 chr9:100466508-100466517
40	FOSL2	chr9:100465890-100466914	A549	lung:	n/a	chr9:100466197-100466204 chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466811-100466820 chr9:100466196-100466205 chr9:100466508-100466517
41	FOSL2	chr9:100465989-100466761	MCF-7	breast:	n/a	chr9:100466197-100466204 chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466196-100466205 chr9:100466508-100466517
42	FOSL2	chr9:100461491-100461867	HepG2	liver:	n/a	n/a
43	FOSL2	chr9:100465994-100466323	A549	lung:	n/a	chr9:100466197-100466204 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466196-100466205
44	FOSL2	chr9:100465958-100466698	HepG2	liver:	n/a	chr9:100466197-100466204 chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466196-100466205 chr9:100466508-100466517
45	FOSL2	chr9:100465990-100466758	SK-N-SH	brain:	n/a	chr9:100466197-100466204 chr9:100466507-100466519 chr9:100466512-100466519 chr9:100466508-100466518 chr9:100466192-100466203 chr9:100466194-100466201 chr9:100466196-100466204 chr9:100466507-100466518 chr9:100466196-100466205 chr9:100466508-100466517
46	GATA3	chr9:100465848-100466850	SK-N-SH	brain:	n/a	chr9:100466800-100466811 chr9:100466510-100466519 chr9:100466308-100466319 chr9:100466194-100466203
47	GATA3	chr9:100465894-100466856	SK-N-SH	brain:	n/a	chr9:100466800-100466811 chr9:100466510-100466519 chr9:100466308-100466319 chr9:100466194-100466203
48	GTF2F1	chr9:100465822-100466733	Hela-S3	cervix:	n/a	n/a
49	HEY1	chr9:100465858-100466118	HepG2	liver:	n/a	n/a
50	HEY1	chr9:100465751-100466235	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:100460584-100460634	HCT-116	colon:	n/a
2	chr9:100462742-100462792	Caco-2	colon:	n/a
3	chr9:100460584-100460634	HPAEpiC	pulmonary alveolar:	n/a
4	chr9:100460584-100460634	NB4	blood:	n/a
5	chr9:100460584-100460634	HIPEpiC	eye:	n/a
6	chr9:100462742-100462792	ProgFib	skin:	n/a
7	chr9:100460584-100460634	GM12891	blood:	n/a
8	chr9:100462742-100462792	GM06990	blood:	n/a
9	chr9:100462742-100462792	SKMC	muscle:	n/a
10	chr9:100460584-100460634	PrEC	prostate:	n/a
11	chr9:100460584-100460634	AG09319	gingival:	n/a
12	chr9:100460584-100460634	AG04450	lung:	fetal
13	chr9:100460584-100460634	HNPCEpiC	eye:	n/a
14	chr9:100460584-100460634	GM12878	blood:	n/a
15	chr9:100462742-100462792	K562	blood:	n/a
16	chr9:100462742-100462792	AG09319	gingival:	n/a
17	chr9:100462742-100462792	LNCaP	prostate:	n/a
18	chr9:100460584-100460634	HUVEC	blood vessel:	n/a
19	chr9:100460584-100460634	HCM	heart:	n/a
20	chr9:100462742-100462792	PFSK-1	brain:	n/a
21	chr9:100460584-100460634	NT2-D1	testis:	n/a
22	chr9:100460584-100460634	AG04449	skin:	fetal
23	chr9:100462742-100462792	SK-N-MC	brain:	n/a
24	chr9:100460584-100460634	SK-N-SH	brain:	n/a
25	chr9:100460584-100460634	AoSMC	blood vessel:	n/a
26	chr9:100460584-100460634	RPTEC	kidney:	n/a
27	chr9:100462742-100462792	HCPEpiC	choroid plexus:	n/a
28	chr9:100462742-100462792	NB4	blood:	n/a
29	chr9:100460584-100460634	ovcar-3	ovarian:	n/a
30	chr9:100460584-100460634	HMEC	breast:	n/a
31	chr9:100460584-100460634	Caco-2	colon:	n/a
32	chr9:100462742-100462792	NHDF-neo	bronchial:	n/a
33	chr9:100462742-100462792	HRCEpiC	kidney:	n/a
34	chr9:100460584-100460634	HL-60	blood:	n/a
35	chr9:100462742-100462792	NT2-D1	testis:	n/a
36	chr9:100460584-100460634	A549	lung:	n/a
37	chr9:100460584-100460634	ProgFib	skin:	n/a
38	chr9:100462742-100462792	AG09309	skin:	n/a
39	chr9:100460584-100460634	HEK293	kidney:	embryo
40	chr9:100460584-100460634	BE2_C	brain:	n/a
41	chr9:100460584-100460634	GM06990	blood:	n/a
42	chr9:100462742-100462792	HRPEpiC	eye:	n/a
43	chr9:100462742-100462792	AoSMC	blood vessel:	n/a
44	chr9:100462742-100462792	PrEC	prostate:	n/a
45	chr9:100462742-100462792	Jurkat	blood:	n/a
46	chr9:100462742-100462792	HEK293	kidney:	embryo
47	chr9:100460584-100460634	PFSK-1	brain:	n/a
48	chr9:100460584-100460634	HepG2	liver:	n/a
49	chr9:100460584-100460634	SAEC	small airway:	n/a
50	chr9:100462742-100462792	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:100465773..100467417-chr9:100473375..100476124,2	MCF-7	breast:
2	chr9:100465031..100468402-chr9:100745252..100748120,3	MCF-7	breast:
3	chr9:100464367..100467056-chr9:100650913..100653289,2	K562	blood:
4	chr9:100462976..100466831-chr9:100467484..100471759,4	K562	blood:
5	chr9:100457791..100462084-chr9:100462112..100466505,5	K562	blood:
6	chr9:100457791..100462084-chr9:100462112..100466505,5	K562	blood:
7	chr9:100458037..100462084-chr9:100463856..100467658,7	MCF-7	breast:
8	chr9:100393846..100397319-chr9:100457855..100461087,4	MCF-7	breast:
9	chr9:100458946..100460891-chr9:100746178..100747740,2	MCF-7	breast:
10	chr9:100461133..100463354-chr9:100744707..100746870,2	MCF-7	breast:
11	chr9:100456256..100459810-chr9:100463870..100468057,7	MCF-7	breast:
12	chr9:100466290..100468242-chr9:100471348..100474178,4	K562	blood:

Variant related genes	Relation type
XPA	TF binding region
ENSG00000266608	TF binding region
KRT18P13	TF binding region
XPA	CpG island
ENSG00000266608	CpG island
KRT18P13	CpG island
ENSG00000136937	chromatin interactions
ENSG00000266608	chromatin interactions
ENSG00000136936	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000214417	chromatin interactions
ENSG00000136925	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372204532	chr9:100460409-100460410	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs146138421	chr9:100460534-100460535	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs3176628	chr9:100460537-100460538	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs3176627	chr9:100460542-100460543	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35586564	chr9:100460600-100460601	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs571420077	chr9:100460611-100460612	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs3176626	chr9:100460643-100460644	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs547683279	chr9:100460662-100460663	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs3176625	chr9:100460708-100460709	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561782545	chr9:100460712-100460713	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs148798966	chr9:100460728-100460729	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs550675049	chr9:100460792-100460793	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs562394101	chr9:100460816-100460817	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs185664107	chr9:100460831-100460832	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs3176624	chr9:100460848-100460849	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142384102	chr9:100460966-100460967	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs534918942	chr9:100460971-100460972	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs3176623	chr9:100460984-100460985	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369797461	chr9:100460986-100460987	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs140488623	chr9:100461043-100461044	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs557025557	chr9:100461058-100461059	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs370533960	chr9:100461094-100461095	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs112138241	chr9:100461114-100461115	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs200677607	chr9:100461139-100461140	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs62560506	chr9:100461151-100461152	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs575557629	chr9:100461156-100461157	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs539773918	chr9:100461160-100461161	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs188852773	chr9:100461191-100461192	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs573058917	chr9:100461217-100461218	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs540519164	chr9:100461220-100461221	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs539132921	chr9:100461282-100461283	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs145487222	chr9:100461288-100461289	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs56287304	chr9:100461323-100461324	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs544365131	chr9:100461345-100461346	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs73500392	chr9:100461350-100461351	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73500393	chr9:100461387-100461388	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73500395	chr9:100461396-100461397	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73500396	chr9:100461425-100461426	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528786607	chr9:100461438-100461439	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs546884510	chr9:100461451-100461452	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs73500397	chr9:100461509-100461510	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112924048	chr9:100461510-100461511	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs550663358	chr9:100461530-100461531	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs569306599	chr9:100461552-100461553	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs539466062	chr9:100461600-100461601	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs142377718	chr9:100461619-100461620	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs574803309	chr9:100461753-100461754	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs73500398	chr9:100461756-100461757	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569253422	chr9:100461757-100461758	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs534131232	chr9:100461775-100461776	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100458400-100460400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr9:100458800-100460400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr9:100459600-100460400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr9:100459800-100460400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr9:100459800-100460400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:100459800-100460400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:100459800-100460400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr9:100459800-100460400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr9:100459800-100460400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr9:100459800-100460400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr9:100459800-100460400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr9:100459800-100460400	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr9:100459800-100460400	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr9:100459800-100460400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr9:100459800-100460400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr9:100459800-100460400	Enhancers	Small Intestine	intestine
17	chr9:100459800-100460400	Enhancers	Spleen	Spleen
18	chr9:100459800-100460400	Flanking Active TSS	GM12878-XiMat	blood
19	chr9:100459800-100460400	Flanking Active TSS	Hela-S3	cervix
20	chr9:100459800-100460600	Flanking Active TSS	Dnd41	blood
21	chr9:100459800-100466400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:100460000-100460400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:100460000-100460400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr9:100460000-100460400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:100460000-100460400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:100460000-100460400	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr9:100460000-100460400	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr9:100460000-100460400	Enhancers	Esophagus	oesophagus
29	chr9:100460000-100460400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:100460000-100460400	Enhancers	Fetal Intestine Large	intestine
31	chr9:100460000-100460400	Enhancers	Fetal Intestine Small	intestine
32	chr9:100460000-100460400	Flanking Active TSS	Fetal Kidney	kidney
33	chr9:100460000-100460400	Enhancers	Fetal Muscle Leg	muscle
34	chr9:100460000-100460400	Enhancers	Placenta	Placenta
35	chr9:100460000-100460400	Enhancers	Pancreas	Pancrea
36	chr9:100460000-100460400	Enhancers	Right Atrium	heart
37	chr9:100460000-100460400	Flanking Active TSS	A549	lung
38	chr9:100460000-100460400	Enhancers	HUVEC	blood vessel
39	chr9:100460000-100460400	Enhancers	NHLF	lung
40	chr9:100460000-100460600	Flanking Active TSS	HepG2	liver
41	chr9:100460000-100461200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:100460000-100461600	Enhancers	HMEC	breast
43	chr9:100460000-100465400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:100460200-100460400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
45	chr9:100460200-100460400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr9:100460200-100460400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr9:100460200-100460400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:100460200-100460400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:100460200-100460400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr9:100460200-100460400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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