Variant report

Variant	rs62268863
Chromosome Location	chr3:97978679-97978680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:97978660-97978810	NHEK	skin:	n/a	n/a
2	CTCF	chr3:97978660-97978810	GM12865	blood:	n/a	n/a
3	CTCF	chr3:97978675-97978874	GM19239	blood:	n/a	n/a
4	CTCF	chr3:97978599-97978946	GM12878	blood:	n/a	n/a
5	RAD21	chr3:97978565-97978931	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr3:97978660-97978810	HCFaa	heart:	n/a	n/a
7	CTCF	chr3:97978672-97978836	HepG2	liver:	n/a	n/a
8	CTCF	chr3:97978620-97978770	RPTEC	kidney:	n/a	n/a
9	RAD21	chr3:97978632-97978937	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr3:97978675-97978877	GM12878	blood:	n/a	n/a
11	CTCF	chr3:97978653-97978881	GM12892	blood:	n/a	n/a
12	CTCF	chr3:97978667-97978879	A549	lung:	n/a	n/a
13	CTCF	chr3:97978620-97978770	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr3:97978594-97978885	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr3:97978660-97978810	GM12874	blood:	n/a	n/a
16	RAD21	chr3:97978659-97978842	HepG2	liver:	n/a	n/a
17	CTCF	chr3:97978572-97978895	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr3:97978580-97978730	WI-38	lung:	n/a	n/a
19	ZNF143	chr3:97978655-97978860	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr3:97978540-97978690	AG04450	lung:	n/a	n/a
21	CTCF	chr3:97978670-97978895	Gliobla	brain:	n/a	n/a
22	CTCF	chr3:97978660-97978810	MCF-7	breast:	n/a	n/a
23	RAD21	chr3:97978564-97978977	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr3:97978677-97978902	GM19240	blood:	n/a	n/a
25	CTCF	chr3:97978660-97978810	HCT-116	colon:	n/a	n/a
26	CTCF	chr3:97978640-97978790	GM06990	blood:	n/a	n/a
27	CTCF	chr3:97978640-97978790	HRE	kidney:	n/a	n/a
28	CTCF	chr3:97978660-97978810	Caco-2	colon:	n/a	n/a
29	CTCF	chr3:97978640-97978899	GM19238	blood:	n/a	n/a
30	CTCF	chr3:97978668-97978886	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr3:97978640-97978790	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr3:97978660-97978810	BE2_C	brain:	n/a	n/a
33	CTCF	chr3:97978640-97978790	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr3:97978660-97978810	GM12873	blood:	n/a	n/a
35	CTCF	chr3:97978640-97978790	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:97977847..97980147-chr3:97980537..97982058,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR5H6	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11717178	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12629258	0.83[AFR][1000 genomes]
rs1603599	0.82[AFR][1000 genomes]
rs1603602	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1603603	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16839611	0.83[AFR][1000 genomes]
rs34532306	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34541751	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34690476	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34931219	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35288084	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35315439	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35831406	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464498	0.82[AFR][1000 genomes]
rs4857364	0.83[AFR][1000 genomes]
rs57109482	0.83[AFR][1000 genomes]
rs62268864	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6764487	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765125	0.86[ASN][1000 genomes]
rs6772436	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775143	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6809869	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810110	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6810193	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609934	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7610289	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7610802	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621918	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7630734	0.84[AFR][1000 genomes]
rs7642283	0.81[ASN][1000 genomes]
rs7643309	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9814187	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9821488	0.81[ASN][1000 genomes]
rs9822335	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9823733	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829822	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829977	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9831068	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833818	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862880	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9864541	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869347	chr3:97742604-98051633	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv877209	chr3:97806616-98049409	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv963576	chr3:97825434-98041343	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1004820	chr3:97852875-98169488	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv834773	chr3:97855362-98043888	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1000834	chr3:97859880-98095473	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv877210	chr3:97866177-97992964	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv432462	chr3:97918267-98001710	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv877212	chr3:97931105-98033400	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1842860	chr3:97934241-98075543	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1004762	chr3:97935701-98000227	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1008569	chr3:97937168-97983117	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1009918	chr3:97946030-98155450	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv965340	chr3:97957002-97980365	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3444875	chr3:97957818-97983549	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv877213	chr3:97973670-97992964	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3399236	chr3:97977397-97988329	Inactive region	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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