Variant report

Variant	rs10769248
Chromosome Location	chr11:47219310-47219311
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47206234..47211366-chr11:47214484..47221177,8	MCF-7	breast:
2	chr11:47203798..47205420-chr11:47217251..47219556,2	MCF-7	breast:
3	chr11:47214452..47216004-chr11:47218077..47220648,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165912	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10501319	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10742797	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838652	0.82[ASN][1000 genomes]
rs10838658	0.86[ASN][1000 genomes]
rs10838662	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10838663	0.88[ASN][1000 genomes]
rs10838664	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11039080	0.82[ASN][1000 genomes]
rs11039081	0.83[ASN][1000 genomes]
rs11601798	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11603373	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12417519	0.86[ASN][1000 genomes]
rs12574410	0.88[ASN][1000 genomes]
rs2087215	0.87[ASN][1000 genomes]
rs2279438	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2279439	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3758666	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758667	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3922684	0.86[ASN][1000 genomes]
rs4269876	0.86[ASN][1000 genomes]
rs4315028	0.83[ASN][1000 genomes]
rs4498951	0.86[ASN][1000 genomes]
rs4576779	0.85[ASN][1000 genomes]
rs4587689	0.86[ASN][1000 genomes]
rs4752965	0.88[ASN][1000 genomes]
rs4752969	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61896133	0.86[ASN][1000 genomes]
rs61896136	0.86[ASN][1000 genomes]
rs61897844	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61897857	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6485726	0.82[ASN][1000 genomes]
rs7108822	0.80[ASN][1000 genomes]
rs7112854	0.86[ASN][1000 genomes]
rs7114683	0.82[ASN][1000 genomes]
rs7124648	0.80[ASN][1000 genomes]
rs7126005	0.80[ASN][1000 genomes]
rs7127741	0.82[ASN][1000 genomes]
rs7128650	0.80[ASN][1000 genomes]
rs7130006	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7937410	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7940240	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7950753	0.81[ASN][1000 genomes]
rs7951979	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs901747	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs923324	0.81[EUR][1000 genomes];0.88[ASN][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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10769248	DDB2	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47210200-47226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:47215800-47224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:47216800-47222400	Weak transcription	Placenta	Placenta

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