Variant report

Variant	rs3097242
Chromosome Location	chr5:112807599-112807600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112806357..112808384-chr5:112822397..112825352,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1057827	0.93[EUR][1000 genomes]
rs1643824	0.87[EUR][1000 genomes]
rs168365	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs168366	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs171180	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs191553	0.94[EUR][1000 genomes]
rs2248930	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs255860	0.82[EUR][1000 genomes]
rs28785806	0.90[EUR][1000 genomes]
rs348924	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs348925	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs348926	0.93[EUR][1000 genomes]
rs348928	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs348929	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs348930	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs348931	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs348932	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs348938	0.80[AFR][1000 genomes]
rs348940	0.80[AFR][1000 genomes]
rs348941	0.84[EUR][1000 genomes]
rs348944	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs348945	0.84[EUR][1000 genomes]
rs348946	0.93[EUR][1000 genomes]
rs348947	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs348948	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs348951	0.92[EUR][1000 genomes]
rs348952	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs348954	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs348955	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs348956	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs348957	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs348958	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs348960	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs348961	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs348962	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs348963	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs364738	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs366219	0.91[EUR][1000 genomes]
rs367943	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs388363	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs444322	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs451425	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs451453	0.90[EUR][1000 genomes]
rs455435	0.93[EUR][1000 genomes]
rs458044	0.91[EUR][1000 genomes]
rs460079	0.91[EUR][1000 genomes]
rs463167	0.93[EUR][1000 genomes]
rs463249	0.88[EUR][1000 genomes]
rs644154	0.92[EUR][1000 genomes]
rs9687443	0.83[EUR][1000 genomes]
rs9800375	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112786200-112810000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112788000-112808000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:112788200-112807600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112794800-112810000	Weak transcription	NHEK	skin
5	chr5:112806800-112808000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:112807200-112808200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:112807200-112808200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:112807400-112808000	ZNF genes & repeats	Fetal Stomach	stomach

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