Variant report

Variant	nsv972778
Chromosome Location	chr9:94902068-94908273
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	chr9:94902761-94902764	K562	blood:	n/a	n/a
2	BCLAF1	chr9:94902534-94902978	GM12878	blood:	n/a	n/a
3	BHLHE40	chr9:94902613-94902968	K562	blood:	n/a	n/a
4	CBX3	chr9:94902536-94902959	K562	blood:	n/a	n/a
5	CHD2	chr9:94902672-94902914	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr9:94902597-94902800	K562	blood:	n/a	n/a
7	CTCF	chr9:94902680-94902830	MCF-7	breast:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
8	CTCF	chr9:94902720-94902870	BE2_C	brain:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
9	CTCF	chr9:94906680-94906830	A549	lung:	n/a	n/a
10	CTCF	chr9:94902720-94902870	HCM	heart:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
11	CTCF	chr9:94902120-94902270	HCM	heart:	n/a	n/a
12	CTCF	chr9:94903522-94903870	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr9:94902660-94902810	GM12872	blood:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
14	CTCF	chr9:94902660-94902810	AG09319	gingival:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
15	CTCF	chr9:94903320-94903470	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr9:94902601-94902889	Fibrobl	skin:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
17	CTCF	chr9:94902607-94902887	HUVEC	blood vessel:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
18	CTCF	chr9:94902040-94902190	GM12871	blood:	n/a	n/a
19	CTCF	chr9:94902614-94902873	MCF-7	breast:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
20	CTCF	chr9:94902660-94902810	HEEpiC	esophagus:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
21	CTCF	chr9:94902140-94902290	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr9:94903620-94903770	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr9:94902700-94902850	GM12873	blood:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
24	CTCF	chr9:94902611-94902873	GM13976	blood:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
25	CTCF	chr9:94907660-94907810	GM12871	blood:	n/a	chr9:94907726-94907735
26	CTCF	chr9:94902180-94902330	GM12866	blood:	n/a	n/a
27	CTCF	chr9:94903660-94903810	GM12864	blood:	n/a	n/a
28	CTCF	chr9:94902680-94902830	GM12867	blood:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
29	CTCF	chr9:94902516-94902916	K562	blood:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
30	CTCF	chr9:94902489-94903023	MCF-7	breast:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
31	CTCF	chr9:94902533-94902970	H1-hESC	embryonic stem cell:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
32	CTCF	chr9:94902660-94902810	NHEK	skin:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
33	CTCF	chr9:94903600-94903750	HEK293	kidney:	n/a	n/a
34	CTCF	chr9:94902496-94902497	GM10248	blood:	n/a	n/a
35	CTCF	chr9:94902660-94902810	HUVEC	blood vessel:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
36	CTCF	chr9:94902700-94902850	NHDF-neo	bronchial:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
37	CTCF	chr9:94902240-94902390	GM06990	blood:	n/a	n/a
38	CTCF	chr9:94902680-94902830	SK-N-SH_RA	brain:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
39	CTCF	chr9:94902530-94902911	GM12878	blood:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
40	CTCF	chr9:94902040-94902190	RPTEC	kidney:	n/a	n/a
41	CTCF	chr9:94903600-94903750	SAEC	small airway:	n/a	n/a
42	CTCF	chr9:94902660-94902810	AoAF	blood vessel:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
43	CTCF	chr9:94902660-94902810	HA-sp	spinal cord:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
44	CTCF	chr9:94902444-94903129	HCT-116	colon:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
45	CTCF	chr9:94903640-94903790	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr9:94903661-94903707	GM13977	blood:	n/a	n/a
47	CTCF	chr9:94903640-94903790	GM12867	blood:	n/a	n/a
48	CTCF	chr9:94903820-94903970	GM12870	blood:	n/a	n/a
49	CTCF	chr9:94903620-94903770	MCF-7	breast:	n/a	n/a
50	CTCF	chr9:94902660-94902810	HRPEpiC	eye:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:94903088-94903138	HIPEpiC	eye:	n/a
2	chr9:94902753-94902803	SK-N-SH	brain:	n/a
3	chr9:94903573-94903623	SAEC	small airway:	n/a
4	chr9:94903573-94903623	SK-N-SH	brain:	n/a
5	chr9:94903573-94903623	HEEpiC	esophagus:	n/a
6	chr9:94902753-94902803	HepG2	liver:	n/a
7	chr9:94902753-94902803	NHDF-neo	bronchial:	n/a
8	chr9:94903088-94903138	ProgFib	skin:	n/a
9	chr9:94902753-94902803	T-47D	breast:	n/a
10	chr9:94903088-94903138	CMK	blood:	n/a
11	chr9:94903573-94903623	NH-A	brain:	n/a
12	chr9:94902753-94902803	SAEC	small airway:	n/a
13	chr9:94903088-94903138	Hela-S3	cervix:	n/a
14	chr9:94903088-94903138	NHDF-neo	bronchial:	n/a
15	chr9:94903573-94903623	AG04450	lung:	fetal
16	chr9:94902753-94902803	GM19239	blood:	n/a
17	chr9:94903088-94903138	ovcar-3	ovarian:	n/a
18	chr9:94903088-94903138	PANC-1	pancreas:	n/a
19	chr9:94903088-94903138	MCF-7	breast:	n/a
20	chr9:94902753-94902803	PFSK-1	brain:	n/a
21	chr9:94903088-94903138	SK-N-SH_RA	brain:	n/a
22	chr9:94903573-94903623	HUVEC	blood vessel:	n/a
23	chr9:94902753-94902803	GM12878	blood:	n/a
24	chr9:94903088-94903138	NB4	blood:	n/a
25	chr9:94902753-94902803	NHBE	bronchial:	n/a
26	chr9:94902753-94902803	HCM	heart:	n/a
27	chr9:94902753-94902803	HNPCEpiC	eye:	n/a
28	chr9:94902753-94902803	MCF-7	breast:	n/a
29	chr9:94903573-94903623	AG09309	skin:	n/a
30	chr9:94903088-94903138	HPAEpiC	pulmonary alveolar:	n/a
31	chr9:94903088-94903138	H1-hESC	embryonic stem cell:	embryo
32	chr9:94902753-94902803	HEK293	kidney:	embryo
33	chr9:94903573-94903623	HCPEpiC	choroid plexus:	n/a
34	chr9:94903573-94903623	ECC-1	luminal epithelium:	n/a
35	chr9:94903088-94903138	NHBE	bronchial:	n/a
36	chr9:94902753-94902803	HCT-116	colon:	n/a
37	chr9:94903088-94903138	HCT-116	colon:	n/a
38	chr9:94903088-94903138	HL-60	blood:	n/a
39	chr9:94902753-94902803	GM06990	blood:	n/a
40	chr9:94902753-94902803	GM12891	blood:	n/a
41	chr9:94903088-94903138	AG09309	skin:	n/a
42	chr9:94903088-94903138	HEK293	kidney:	embryo
43	chr9:94903573-94903623	HMEC	breast:	n/a
44	chr9:94902753-94902803	H1-hESC	embryonic stem cell:	embryo
45	chr9:94902753-94902803	SKMC	muscle:	n/a
46	chr9:94903088-94903138	HRPEpiC	eye:	n/a
47	chr9:94903088-94903138	Caco-2	colon:	n/a
48	chr9:94902753-94902803	AG09309	skin:	n/a
49	chr9:94903573-94903623	GM12878	blood:	n/a
50	chr9:94903573-94903623	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:94902223..94905302-chr9:94908199..94910430,4	MCF-7	breast:
2	chr9:94898906..94903668-chr9:95086648..95090271,5	MCF-7	breast:
3	chr9:94902180..94903465-chr9:95004247..95005390,7	MCF-7	breast:
4	chr9:94902223..94905302-chr9:94908199..94910430,4	MCF-7	breast:
5	chr9:94899946..94902668-chr9:94908231..94910049,3	K562	blood:
6	chr9:94901685..94904988-chr9:95003695..95006795,3	MCF-7	breast:
7	chr9:94902503..94903236-chr9:95396725..95397397,2	MCF-7	breast:
8	chr9:94907697..94909675-chr9:94998713..95001365,2	K562	blood:
9	chr9:94900452..94902204-chr9:94914248..94916401,2	MCF-7	breast:
10	chr9:94900325..94903739-chr9:94909399..94912070,4	MCF-7	breast:
11	chr9:94907081..94909170-chr9:94913018..94916076,3	MCF-7	breast:
12	chr9:94902262..94903203-chr9:95396707..95397642,2	K562	blood:
13	chr9:94902342..94903195-chr9:95004476..95005483,4	MCF-7	breast:
14	chr1:117477349..117478025-chr9:94902653..94903339,2	MCF-7	breast:
15	chr9:94899508..94902437-chr9:95003923..95007845,5	MCF-7	breast:
16	chr9:94907173..94909059-chr9:95054876..95056486,2	MCF-7	breast:
17	chr9:94903732..94905881-chr9:94913415..94915626,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTLC1-4	chr9:94908151-94908605	NONHSAT133172
2	lnc-CENPP-3	chr9:94907223-94907313	ENSG00000225511
3	lnc-CENPP-3	chr9:94904101-94904386	NONHSAT133168
4	lnc-CENPP-3	chr9:94907167-94907301	NONHSAT133168
5	lnc-CENPP-3	chr9:94906427-94906849	NONHSAT133169
6	lnc-CENPP-3	chr9:94907167-94907313	NONHSAT133169

Variant related genes	Relation type
ENSG00000238996	TF binding region
LINC00475	TF binding region
ENSG00000238996	CpG island
LINC00475	CpG island
ENSG00000198000	chromatin interactions
ENSG00000225511	chromatin interactions
ENSG00000188312	chromatin interactions
ENSG00000196305	chromatin interactions

Extended variants
information (count: 232 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:232 , 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	rs370200773	chr9:94902086-94902087	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs60568227	chr9:94902098-94902099	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563601148	chr9:94902099-94902100	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs575537913	chr9:94902122-94902123	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs116402991	chr9:94902186-94902187	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs375290355	chr9:94902236-94902237	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs564380439	chr9:94902259-94902260	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs544575063	chr9:94902275-94902276	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs375518561	chr9:94902284-94902285	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs559455683	chr9:94902326-94902327	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs115937938	chr9:94902336-94902337	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs59232045	chr9:94902361-94902362	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530161599	chr9:94902367-94902368	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs181566842	chr9:94902386-94902387	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs569919031	chr9:94902404-94902405	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs10992250	chr9:94902575-94902576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs552388835	chr9:94902578-94902579	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs570692245	chr9:94902606-94902607	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs535094106	chr9:94902644-94902645	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs553162479	chr9:94902676-94902677	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs79391355	chr9:94902737-94902738	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs535437142	chr9:94902762-94902763	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs374027838	chr9:94902826-94902827	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs556984952	chr9:94902848-94902849	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs575525168	chr9:94902855-94902856	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs546122976	chr9:94902894-94902895	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs564319581	chr9:94902908-94902909	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs144450291	chr9:94902932-94902933	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs147999828	chr9:94902998-94902999	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs541173373	chr9:94903004-94903005	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs530971717	chr9:94903006-94903007	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs529796769	chr9:94903093-94903094	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs72748370	chr9:94903094-94903095	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141683663	chr9:94903138-94903139	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs6479408	chr9:94903215-94903216	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552526900	chr9:94903219-94903220	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs146109124	chr9:94903338-94903339	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs528237931	chr9:94903368-94903369	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs545329153	chr9:94903389-94903390	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs374364775	chr9:94903396-94903397	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs546778924	chr9:94903408-94903409	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs568459412	chr9:94903430-94903431	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs535985711	chr9:94903448-94903449	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs556923724	chr9:94903459-94903460	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs568941342	chr9:94903544-94903545	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs538140306	chr9:94903546-94903547	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs10992251	chr9:94903550-94903551	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs3927571	chr9:94903575-94903576	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573489113	chr9:94903598-94903599	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs540422916	chr9:94903657-94903658	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Mental retardation	21693067	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
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94896400-94902400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:94896600-94902400	Weak transcription	Spleen	Spleen
3	chr9:94896600-94902800	Weak transcription	Gastric	stomach
4	chr9:94896800-94902600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr9:94896800-94902800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:94896800-94902800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:94896800-94902800	Weak transcription	Esophagus	oesophagus
8	chr9:94896800-94902800	Weak transcription	Right Atrium	heart
9	chr9:94896800-94902800	Weak transcription	A549	lung
10	chr9:94897200-94902400	Weak transcription	Ovary	ovary
11	chr9:94897200-94902800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:94897200-94902800	Weak transcription	HUVEC	blood vessel
13	chr9:94897400-94902400	Weak transcription	Osteobl	bone
14	chr9:94897400-94902800	Weak transcription	NHDF-Ad	bronchial
15	chr9:94897600-94902400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:94897600-94902800	Weak transcription	HMEC	breast
17	chr9:94900000-94903000	Flanking Active TSS	HepG2	liver
18	chr9:94900200-94902600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:94900200-94902600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:94900200-94903200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:94900400-94902200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:94900400-94902400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:94900400-94902800	Weak transcription	Hela-S3	cervix
24	chr9:94900400-94902800	Weak transcription	K562	blood
25	chr9:94900600-94902400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr9:94900600-94902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:94900800-94902600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:94900800-94902600	Weak transcription	Dnd41	blood
29	chr9:94900800-94903000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:94900800-94903000	Enhancers	HSMMtube	muscle
31	chr9:94901000-94902200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:94901000-94902200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:94901000-94902200	Weak transcription	Placenta	Placenta
34	chr9:94901000-94902800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:94901400-94902400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr9:94901600-94902800	Weak transcription	NH-A	brain
37	chr9:94901800-94902200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:94901800-94902200	Weak transcription	HSMM	muscle
39	chr9:94902000-94903000	Enhancers	NHLF	lung
40	chr9:94902200-94902800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:94902200-94902800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:94902200-94902800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:94902200-94902800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr9:94902200-94902800	Enhancers	HSMM	muscle
45	chr9:94902200-94903000	Enhancers	Placenta	Placenta
46	chr9:94902200-94903200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:94902200-94904200	Enhancers	Liver	Liver
48	chr9:94902400-94902600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr9:94902400-94902600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
50	chr9:94902400-94902800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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