Variant report

Variant	rs6994589
Chromosome Location	chr8:62763566-62763567
allele	C/T
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	SMC3	chr8:62763546-62763746	Hela-S3	cervix:	n/a	n/a
2	MYC	chr8:62763499-62763584	MCF-7	breast:	n/a	n/a
3	STAT3	chr8:62763401-62763629	MCF10A-Er-Src	breast:	n/a	n/a
4	MAX	chr8:62763404-62763600	Hela-S3	cervix:	n/a	n/a
5	STAT3	chr8:62763384-62763645	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr8:62763376-62763641	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr8:62763473-62763602	MCF-7	breast:	n/a	n/a
8	FOS	chr8:62763408-62763598	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr8:62763384-62763642	MCF10A-Er-Src	breast:	n/a	n/a
10	TCF7L2	chr8:62763454-62763728	Hela-S3	cervix:	n/a	n/a
11	FOS	chr8:62763565-62763584	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000254119	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16928003	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs16928014	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16928021	0.87[EUR][1000 genomes]
rs16928027	0.87[EUR][1000 genomes]
rs16928043	0.87[EUR][1000 genomes]
rs6991613	0.93[EUR][1000 genomes]
rs7004538	0.87[EUR][1000 genomes]
rs7012433	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72660969	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72660970	0.93[EUR][1000 genomes]
rs72660971	0.88[AFR][1000 genomes]
rs72660973	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72660974	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72660976	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72660977	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72660978	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72660980	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72660982	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72660983	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72660991	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72660993	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72660996	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72660998	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72660999	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72662613	0.87[EUR][1000 genomes]
rs72662617	0.87[EUR][1000 genomes]
rs72662620	0.87[EUR][1000 genomes]
rs72662627	0.87[EUR][1000 genomes]
rs72662636	0.87[EUR][1000 genomes]
rs72662640	0.87[EUR][1000 genomes]
rs72662649	0.87[EUR][1000 genomes]
rs7828781	0.93[EUR][1000 genomes]
rs7840693	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv3363755	chr8:62702301-62764282	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv611427	chr8:62733267-62848952	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv831338	chr8:62736394-62913048	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv3370289	chr8:62759298-62764396	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62763200-62763800	Active TSS	Hela-S3	cervix
2	chr8:62763400-62764200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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