Variant report

Variant	rs12281690
Chromosome Location	chr11:57706785-57706786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10750876	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10792119	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10792120	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10792121	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10792122	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10896663	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896668	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896671	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10896672	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10896674	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10896675	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11229194	0.81[AMR][1000 genomes]
rs11229195	0.82[AMR][1000 genomes]
rs11512733	0.80[AMR][1000 genomes]
rs1317828	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1510419	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1510421	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1848880	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1848882	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1848883	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2089748	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2136726	0.96[EUR][1000 genomes]
rs2866828	0.97[EUR][1000 genomes]
rs2866829	0.97[EUR][1000 genomes]
rs34243081	0.80[AMR][1000 genomes]
rs4272801	0.81[AMR][1000 genomes]
rs4939170	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591447	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7924376	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7924454	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs938012	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9794898	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9795237	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57703400-57707600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:57706200-57707600	Weak transcription	HepG2	liver

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