Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26052571..26054359-chr12:26055750..26057714,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10771244	0.83[AMR][1000 genomes]
rs10771246	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10771247	0.81[AFR][1000 genomes]
rs1167616	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167621	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1167622	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167636	0.87[AFR][1000 genomes]
rs1177525	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1179567	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1183807	0.81[AFR][1000 genomes]
rs1797965	0.89[AFR][1000 genomes]
rs1797970	0.82[AMR][1000 genomes]
rs2634170	0.84[AFR][1000 genomes]
rs2634171	0.81[AMR][1000 genomes]
rs2643928	0.84[AFR][1000 genomes]
rs706539	0.89[AFR][1000 genomes]
rs7307605	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs829821	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs829823	0.89[AFR][1000 genomes]
rs829825	0.89[AFR][1000 genomes]
rs829826	0.89[AFR][1000 genomes]
rs829827	0.89[AFR][1000 genomes]
rs829834	0.85[AMR][1000 genomes]
rs844202	0.81[AFR][1000 genomes]
rs862621	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs995795	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1035319	chr12:26020667-26097148	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26050400-26076800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:26056200-26057000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:26056400-26056800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:26056400-26057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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