Variant report

Variant	rs57042634
Chromosome Location	chr8:122156484-122156485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122145319..122150737-chr8:122156091..122160331,6	MCF-7	breast:
2	chr8:122152636..122154917-chr8:122156415..122158032,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10086195	1.00[EUR][1000 genomes]
rs10090219	1.00[EUR][1000 genomes]
rs10090321	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095334	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10110816	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10956002	0.94[AFR][1000 genomes]
rs12334557	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1368596	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16894758	1.00[EUR][1000 genomes]
rs2019502	1.00[EUR][1000 genomes]
rs28565105	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28570182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28758639	1.00[EUR][1000 genomes]
rs28778943	1.00[EUR][1000 genomes]
rs28798236	1.00[EUR][1000 genomes]
rs28819392	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28824237	1.00[EUR][1000 genomes]
rs58358952	1.00[EUR][1000 genomes]
rs59713643	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60453415	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60585939	1.00[EUR][1000 genomes]
rs61262459	1.00[EUR][1000 genomes]
rs6997963	1.00[EUR][1000 genomes]
rs7004573	1.00[EUR][1000 genomes]
rs9773138	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122153200-122158600	Weak transcription	Fetal Stomach	stomach
2	chr8:122156000-122156600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:122156200-122158800	Enhancers	Hela-S3	cervix

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