Variant report

Variant	rs12114257
Chromosome Location	chr8:104873314-104873315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12115119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55738066	1.00[AMR][1000 genomes]
rs56773931	1.00[AMR][1000 genomes]
rs58032159	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60299412	1.00[AMR][1000 genomes]
rs60412815	1.00[AMR][1000 genomes]
rs60552383	1.00[AMR][1000 genomes]
rs61042766	1.00[AMR][1000 genomes]
rs61589769	1.00[AMR][1000 genomes]
rs6990477	1.00[AMR][1000 genomes]
rs6993163	1.00[AMR][1000 genomes]
rs7004346	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs7006816	1.00[AMR][1000 genomes]
rs7017687	1.00[AMR][1000 genomes]
rs73697653	1.00[AMR][1000 genomes]
rs73697657	1.00[AMR][1000 genomes]
rs73697662	1.00[AMR][1000 genomes]
rs73697668	1.00[AMR][1000 genomes]
rs73697673	1.00[AMR][1000 genomes]
rs73697683	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697684	1.00[AMR][1000 genomes]
rs73697688	1.00[AMR][1000 genomes]
rs73697690	1.00[AMR][1000 genomes]
rs73697694	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697695	1.00[AMR][1000 genomes]
rs73697696	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697698	1.00[AMR][1000 genomes]
rs7826206	1.00[AMR][1000 genomes]
rs7841801	1.00[AMR][1000 genomes]
rs9918740	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2752692	chr8:104520824-105123824	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1016387	chr8:104578389-104931853	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1031195	chr8:104601231-105194208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv1841024	chr8:104872512-104908099	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104859400-104897200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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