Variant report

Variant	nsv917118
Chromosome Location	chr9:98279162-98284265
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	ATF3	chr9:98278984-98279338	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF3	chr9:98278932-98279368	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:98278836-98279643	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr9:98278986-98279277	GM12878	blood:	n/a	n/a
5	BHLHE40	chr9:98278932-98279368	HepG2	liver:	n/a	n/a
6	BHLHE40	chr9:98278640-98279573	K562	blood:	n/a	n/a
7	BHLHE40	chr9:98279032-98279265	A549	lung:	n/a	n/a
8	CBX3	chr9:98281624-98281997	K562	blood:	n/a	n/a
9	CCNT2	chr9:98279077-98279496	K562	blood:	n/a	chr9:98279410-98279419
10	CHD2	chr9:98279153-98279522	K562	blood:	n/a	chr9:98279404-98279414 chr9:98279466-98279476
11	CHD2	chr9:98279304-98279455	HepG2	liver:	n/a	chr9:98279404-98279414
12	CHD2	chr9:98279308-98279430	Hela-S3	cervix:	n/a	chr9:98279404-98279414
13	CTBP2	chr9:98278676-98280022	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr9:98279480-98279630	BJ	skin:	n/a	n/a
15	CTCF	chr9:98279600-98279750	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr9:98279680-98279830	HRE	kidney:	n/a	n/a
17	CTCF	chr9:98279800-98279950	A549	lung:	n/a	n/a
18	CTCF	chr9:98279160-98279310	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr9:98279080-98279230	NHEK	skin:	n/a	n/a
20	CTCF	chr9:98279400-98279550	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr9:98279560-98279710	AG04449	skin:	n/a	n/a
22	CTCF	chr9:98283740-98283890	HepG2	liver:	n/a	chr9:98283831-98283839
23	CTCF	chr9:98279580-98279730	HPF	lung:	n/a	n/a
24	CTCF	chr9:98279020-98279170	SAEC	small airway:	n/a	n/a
25	CTCF	chr9:98279600-98279750	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr9:98279020-98279170	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr9:98279560-98279710	AG09319	gingival:	n/a	n/a
28	CTCF	chr9:98279540-98279690	HCM	heart:	n/a	n/a
29	CTCF	chr9:98279140-98279290	WERI-Rb-1	eye:	n/a	n/a
30	E2F4	chr9:98278887-98279396	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F6	chr9:98278909-98279465	K562	blood:	n/a	chr9:98279407-98279419 chr9:98279410-98279419
32	E2F6	chr9:98278991-98279327	K562	blood:	n/a	n/a
33	E2F6	chr9:98278671-98279413	A549	lung:	n/a	chr9:98278681-98278690
34	E2F6	chr9:98278858-98279953	H1-hESC	embryonic stem cell:	n/a	chr9:98279407-98279419 chr9:98279410-98279419
35	E2F6	chr9:98278064-98279498	K562	blood:	n/a	chr9:98278094-98278101 chr9:98278391-98278406 chr9:98278681-98278690 chr9:98278094-98278101 chr9:98278094-98278101 chr9:98279407-98279419 chr9:98279410-98279419
36	EGR1	chr9:98278926-98279545	K562	blood:	n/a	chr9:98279412-98279421 chr9:98279406-98279428 chr9:98279411-98279421 chr9:98279411-98279424 chr9:98279412-98279422 chr9:98279409-98279419 chr9:98279410-98279425 chr9:98279412-98279423 chr9:98279410-98279424 chr9:98279411-98279424 chr9:98279412-98279422 chr9:98279405-98279418 chr9:98279411-98279424 chr9:98279411-98279424
37	EGR1	chr9:98279017-98279328	ECC-1	luminal epithelium:	n/a	n/a
38	EGR1	chr9:98278902-98279595	ECC-1	luminal epithelium:	n/a	chr9:98279412-98279421 chr9:98279406-98279428 chr9:98279411-98279421 chr9:98279411-98279424 chr9:98279412-98279422 chr9:98279409-98279419 chr9:98279410-98279425 chr9:98279412-98279423 chr9:98279410-98279424 chr9:98279411-98279424 chr9:98279412-98279422 chr9:98279405-98279418 chr9:98279411-98279424 chr9:98279411-98279424
39	EGR1	chr9:98279210-98279576	H1-hESC	embryonic stem cell:	n/a	chr9:98279412-98279421 chr9:98279406-98279428 chr9:98279411-98279421 chr9:98279411-98279424 chr9:98279412-98279422 chr9:98279409-98279419 chr9:98279410-98279425 chr9:98279412-98279423 chr9:98279410-98279424 chr9:98279411-98279424 chr9:98279412-98279422 chr9:98279405-98279418 chr9:98279411-98279424 chr9:98279411-98279424
40	EGR1	chr9:98278830-98279576	K562	blood:	n/a	chr9:98279412-98279421 chr9:98279406-98279428 chr9:98279411-98279421 chr9:98279411-98279424 chr9:98279412-98279422 chr9:98279409-98279419 chr9:98279410-98279425 chr9:98279412-98279423 chr9:98279410-98279424 chr9:98279411-98279424 chr9:98279412-98279422 chr9:98279405-98279418 chr9:98279411-98279424 chr9:98279411-98279424
41	ELF1	chr9:98278937-98279363	GM12878	blood:	n/a	n/a
42	ELF1	chr9:98279080-98279630	K562	blood:	n/a	chr9:98279409-98279421
43	ELF1	chr9:98279064-98279497	K562	blood:	n/a	chr9:98279409-98279421
44	EP300	chr9:98279064-98279454	K562	blood:	n/a	chr9:98279371-98279387 chr9:98279349-98279358
45	FOXA1	chr9:98278940-98279475	HepG2	liver:	n/a	chr9:98279241-98279256 chr9:98279202-98279217
46	FOXA1	chr9:98279118-98279336	ECC-1	luminal epithelium:	n/a	chr9:98279241-98279256 chr9:98279202-98279217
47	FOXA1	chr9:98279030-98279471	HepG2	liver:	n/a	chr9:98279241-98279256 chr9:98279202-98279217
48	FOXA1	chr9:98278930-98279437	HepG2	liver:	n/a	chr9:98279241-98279256 chr9:98279202-98279217
49	FOXA1	chr9:98279071-98279450	HepG2	liver:	n/a	chr9:98279241-98279256 chr9:98279202-98279217
50	FOXA2	chr9:98278859-98279542	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:98279112-98279162	HMEC	breast:	n/a
2	chr9:98279517-98279567	AG10803	skin:	n/a
3	chr9:98279753-98279803	RPTEC	kidney:	n/a
4	chr9:98280076-98280126	IMR90	lung:	fetal
5	chr9:98279166-98279216	SK-N-SH_RA	brain:	n/a
6	chr9:98281968-98282018	SKMC	muscle:	n/a
7	chr9:98279517-98279567	AG09319	gingival:	n/a
8	chr9:98279166-98279216	GM19239	blood:	n/a
9	chr9:98280076-98280126	NH-A	brain:	n/a
10	chr9:98279112-98279162	HIPEpiC	eye:	n/a
11	chr9:98279753-98279803	HEEpiC	esophagus:	n/a
12	chr9:98279166-98279216	Hepatocyte	liver:	n/a
13	chr9:98279112-98279162	MCF-7	breast:	n/a
14	chr9:98279753-98279803	AG04450	lung:	fetal
15	chr9:98279753-98279803	MCF10A-Er-Src	breast:	n/a
16	chr9:98279112-98279162	CMK	blood:	n/a
17	chr9:98279166-98279216	HIPEpiC	eye:	n/a
18	chr9:98280076-98280126	CMK	blood:	n/a
19	chr9:98280076-98280126	HEEpiC	esophagus:	n/a
20	chr9:98279112-98279162	Hepatocyte	liver:	n/a
21	chr9:98280076-98280126	SAEC	small airway:	n/a
22	chr9:98279112-98279162	HRCEpiC	kidney:	n/a
23	chr9:98279517-98279567	AG04450	lung:	fetal
24	chr9:98281968-98282018	AG10803	skin:	n/a
25	chr9:98279517-98279567	GM06990	blood:	n/a
26	chr9:98281968-98282018	HRE	kidney:	n/a
27	chr9:98279753-98279803	GM12892	blood:	n/a
28	chr9:98280076-98280126	GM12892	blood:	n/a
29	chr9:98279517-98279567	Caco-2	colon:	n/a
30	chr9:98280076-98280126	NHBE	bronchial:	n/a
31	chr9:98279517-98279567	NH-A	brain:	n/a
32	chr9:98280076-98280126	NB4	blood:	n/a
33	chr9:98280076-98280126	HRE	kidney:	n/a
34	chr9:98280076-98280126	SK-N-SH_RA	brain:	n/a
35	chr9:98279112-98279162	NT2-D1	testis:	n/a
36	chr9:98279112-98279162	HCPEpiC	choroid plexus:	n/a
37	chr9:98279166-98279216	MCF-7	breast:	n/a
38	chr9:98280076-98280126	H1-hESC	embryonic stem cell:	embryo
39	chr9:98279166-98279216	H1-hESC	embryonic stem cell:	embryo
40	chr9:98279753-98279803	HRE	kidney:	n/a
41	chr9:98279753-98279803	GM06990	blood:	n/a
42	chr9:98279517-98279567	SK-N-SH_RA	brain:	n/a
43	chr9:98281968-98282018	HepG2	liver:	n/a
44	chr9:98279753-98279803	AG04449	skin:	fetal
45	chr9:98281968-98282018	ovcar-3	ovarian:	n/a
46	chr9:98279517-98279567	NHBE	bronchial:	n/a
47	chr9:98281968-98282018	HCT-116	colon:	n/a
48	chr9:98280076-98280126	NT2-D1	testis:	n/a
49	chr9:98279166-98279216	U87	brain:	n/a
50	chr9:98279753-98279803	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:98078194..98081816-chr9:98277777..98279552,3	K562	blood:
2	chr9:98277913..98281548-chr9:98282175..98286855,6	K562	blood:
3	chr9:98277796..98280674-chr9:98636940..98639822,3	K562	blood:
4	chr9:98276862..98280186-chr9:98636651..98639407,3	K562	blood:
5	chr9:98276379..98279756-chr9:98281415..98285056,4	MCF-7	breast:
6	chr9:98279388..98282598-chr9:98285107..98287156,3	MCF-7	breast:
7	chr9:98284179..98286580-chr9:98290294..98292017,2	MCF-7	breast:

Variant related genes	Relation type
PTCH1	TF binding region
PTCH1	CpG island
ENSG00000182150	chromatin interactions
ENSG00000175611	chromatin interactions
ENSG00000158169	chromatin interactions
ENSG00000185920	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562068948	chr9:98279178-98279179	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs142761971	chr9:98279188-98279189	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs118133906	chr9:98279234-98279235	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs569593683	chr9:98279241-98279242	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs533695567	chr9:98279318-98279319	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs28704635	chr9:98279370-98279371	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs368457757	chr9:98279376-98279377	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs151039474	chr9:98279390-98279391	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs374086444	chr9:98279409-98279410	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs548187814	chr9:98279428-98279429	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs567210981	chr9:98279469-98279470	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs368051455	chr9:98279474-98279475	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs537456810	chr9:98279503-98279504	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs188897755	chr9:98279530-98279531	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs577503006	chr9:98279579-98279580	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs543022476	chr9:98279594-98279595	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs553550230	chr9:98279627-98279628	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs550790763	chr9:98279628-98279629	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs35369787	chr9:98279633-98279634	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs572152227	chr9:98279651-98279652	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs58490443	chr9:98279657-98279658	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75845345	chr9:98279673-98279674	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs79376095	chr9:98279675-98279676	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs118154583	chr9:98279676-98279677	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs192165287	chr9:98279739-98279740	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs561159197	chr9:98279780-98279781	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs28705285	chr9:98279801-98279802	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs562904302	chr9:98279841-98279842	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs533657976	chr9:98279886-98279887	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs112554072	chr9:98279887-98279888	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs188652603	chr9:98279901-98279902	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs73527766	chr9:98279905-98279906	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs74584551	chr9:98279920-98279921	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs530905268	chr9:98279941-98279942	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs549026432	chr9:98279942-98279943	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs567268674	chr9:98279974-98279975	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs181139093	chr9:98279976-98279977	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs184645174	chr9:98279978-98279979	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs570959543	chr9:98280018-98280019	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538500114	chr9:98280035-98280036	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs369877511	chr9:98280084-98280085	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs373423570	chr9:98280246-98280247	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs34695652	chr9:98280259-98280260	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs536079846	chr9:98280263-98280264	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs554777279	chr9:98280318-98280319	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201504349	chr9:98280324-98280325	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs532760749	chr9:98280396-98280397	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs189147510	chr9:98280433-98280434	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs544757244	chr9:98280459-98280460	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs77279801	chr9:98280538-98280539	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD
Neurodevelopmental disorder	22521361	CNVD
Basal cell carcinoma	21518781	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98274600-98279600	Active TSS	Duodenum Mucosa	Duodenum
2	chr9:98277200-98280000	Active TSS	Fetal Kidney	kidney
3	chr9:98277400-98280000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr9:98277400-98280200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr9:98277600-98279200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:98277600-98279400	Active TSS	Brain Angular Gyrus	brain
7	chr9:98277600-98279600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:98277600-98279600	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr9:98277600-98279800	Active TSS	Ovary	ovary
10	chr9:98277600-98280200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr9:98277800-98279200	Flanking Bivalent TSS/Enh	Thymus	Thymus
12	chr9:98277800-98279400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:98277800-98279400	Active TSS	HSMM	muscle
14	chr9:98277800-98279400	Active TSS	NHLF	lung
15	chr9:98277800-98279600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr9:98277800-98279600	Active TSS	Gastric	stomach
17	chr9:98277800-98279800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:98277800-98279800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr9:98277800-98279800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr9:98277800-98279800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr9:98277800-98280200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr9:98277800-98280200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr9:98277800-98280200	Active TSS	Brain Cingulate Gyrus	brain
24	chr9:98277800-98280200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:98278000-98279200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:98278000-98279400	Bivalent/Poised TSS	Fetal Stomach	stomach
27	chr9:98278000-98279400	Active TSS	Right Atrium	heart
28	chr9:98278000-98279400	Active TSS	HSMMtube	muscle
29	chr9:98278000-98279600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:98278000-98279600	Active TSS	Fetal Lung	lung
31	chr9:98278000-98279600	Bivalent/Poised TSS	HepG2	liver
32	chr9:98278000-98279600	Active TSS	NHDF-Ad	bronchial
33	chr9:98278000-98279800	Flanking Active TSS	Liver	Liver
34	chr9:98278000-98280000	Active TSS	Brain Anterior Caudate	brain
35	chr9:98278000-98280200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr9:98278000-98280200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr9:98278000-98280200	Active TSS	Brain Substantia Nigra	brain
38	chr9:98278000-98280200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr9:98278200-98279200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr9:98278200-98279200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr9:98278200-98279400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:98278200-98279400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:98278200-98279400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:98278200-98279400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
45	chr9:98278200-98279400	Active TSS	Colon Smooth Muscle	Colon
46	chr9:98278200-98279400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
47	chr9:98278200-98279400	Active TSS	Fetal Brain Female	brain
48	chr9:98278200-98279400	Active TSS	Fetal Heart	heart
49	chr9:98278200-98279400	Active TSS	Fetal Intestine Large	intestine
50	chr9:98278200-98279400	Active TSS	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links