Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10940308	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12517334	0.84[EUR][1000 genomes]
rs1318732	0.84[EUR][1000 genomes]
rs16881173	0.84[EUR][1000 genomes]
rs16881189	0.87[EUR][1000 genomes]
rs17241927	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17242584	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1813600	0.84[EUR][1000 genomes]
rs1960785	0.83[EUR][1000 genomes]
rs1960786	0.84[EUR][1000 genomes]
rs2112876	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2406615	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2406617	0.84[EUR][1000 genomes]
rs56296560	0.87[EUR][1000 genomes]
rs56909170	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62357405	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62357407	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62357430	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62357442	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72762377	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv522454	chr5:52492677-52571758	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52541800-52559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:52548200-52554400	Enhancers	NHEK	skin
3	chr5:52548600-52561400	Enhancers	HMEC	breast
4	chr5:52550000-52558800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:52550200-52556600	Weak transcription	NHDF-Ad	bronchial
6	chr5:52550200-52556800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:52551200-52556400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:52551800-52554800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:52552200-52555600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:52552400-52554000	Enhancers	Osteobl	bone
11	chr5:52552800-52554000	Enhancers	NHLF	lung
12	chr5:52553000-52557000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:52553400-52553800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:52553400-52557000	Weak transcription	HSMM	muscle
15	chr5:52553600-52558800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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