Variant report

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs252045	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs37780	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs37794	0.81[EUR][1000 genomes]
rs37796	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42970	0.84[EUR][1000 genomes]
rs4541613	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4865765	0.82[EUR][1000 genomes]
rs4865766	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4865767	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4865768	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4865769	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv508356	chr5:52646168-52703120	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52642800-52656000	Weak transcription	Aorta	Aorta
2	chr5:52647600-52654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:52649600-52655000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:52650400-52653000	Enhancers	Osteobl	bone
5	chr5:52651000-52652800	Enhancers	NHLF	lung
6	chr5:52651200-52654600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:52651600-52654600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:52651800-52654800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:52652000-52654600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:52652000-52654600	Weak transcription	HMEC	breast
11	chr5:52652200-52653000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:52652200-52654600	Weak transcription	NH-A	brain
13	chr5:52652200-52656600	Weak transcription	HUVEC	blood vessel
14	chr5:52652400-52654000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:52652400-52654000	Weak transcription	Hela-S3	cervix
16	chr5:52652400-52655000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:52652600-52654200	Weak transcription	NHDF-Ad	bronchial
18	chr5:52652600-52654600	Weak transcription	HSMM	muscle
19	chr5:52652600-52654800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:52652600-52655000	Weak transcription	NHEK	skin

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