Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12810051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12813857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12832186	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2249315	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2249841	0.93[AFR][1000 genomes]
rs2250202	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2465203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2465610	0.91[AFR][1000 genomes]
rs2465611	0.81[EUR][1000 genomes]
rs2465642	0.93[AFR][1000 genomes]
rs2465643	0.93[AFR][1000 genomes]
rs2715780	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34666797	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34881657	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35024790	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132156	0.88[EUR][1000 genomes]
rs7310091	0.88[EUR][1000 genomes]
rs74082953	0.88[EUR][1000 genomes]
rs74082963	0.96[EUR][1000 genomes]
rs74082966	0.96[EUR][1000 genomes]
rs7980196	0.88[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	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47285200-47298400	Weak transcription	HSMM	muscle
2	chr12:47285400-47297400	Weak transcription	NHDF-Ad	bronchial
3	chr12:47287600-47298400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:47289600-47292600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:47290800-47291400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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