Variant report

Variant	rs12807887
Chromosome Location	chr11:47218957-47218958
allele	C/T
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: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10466478	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1055447	0.87[ASN][1000 genomes]
rs1060573	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769233	0.85[ASN][1000 genomes]
rs10769234	0.86[ASN][1000 genomes]
rs10769239	0.89[ASN][1000 genomes]
rs10838654	0.87[ASN][1000 genomes]
rs10838659	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838660	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039074	0.86[ASN][1000 genomes]
rs11039086	0.89[ASN][1000 genomes]
rs11039097	0.89[ASN][1000 genomes]
rs11039105	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039107	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039112	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039119	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11039124	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039134	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11600668	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12224096	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12291341	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12796744	0.89[ASN][1000 genomes]
rs1872896	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1965952	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1976142	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1976143	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2018527	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2029298	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4237547	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4319472	0.89[ASN][1000 genomes]
rs4567413	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4579897	0.86[ASN][1000 genomes]
rs4752952	0.86[ASN][1000 genomes]
rs4752957	0.89[ASN][1000 genomes]
rs4752962	0.91[ASN][1000 genomes]
rs4752963	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752967	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752971	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57323109	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6485721	0.83[ASN][1000 genomes]
rs6485722	0.81[ASN][1000 genomes]
rs6485739	0.91[ASN][1000 genomes]
rs7103581	0.85[ASN][1000 genomes]
rs7108902	0.85[ASN][1000 genomes]
rs7111764	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7119952	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7121418	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7125807	0.83[ASN][1000 genomes]
rs7128325	0.83[ASN][1000 genomes]
rs747650	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7479189	0.86[ASN][1000 genomes]
rs7937101	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7937950	0.87[ASN][1000 genomes]
rs7942473	0.89[ASN][1000 genomes]
rs7945315	0.89[ASN][1000 genomes]
rs7946709	0.87[ASN][1000 genomes]
rs9633886	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[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
rs12807887	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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