Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1112956	1.00[LWK][hapmap];0.93[MKK][hapmap]
rs152906	0.83[EUR][1000 genomes]
rs17764730	1.00[LWK][hapmap];0.93[MKK][hapmap]
rs181850	0.82[EUR][1000 genomes]
rs185177	0.84[EUR][1000 genomes]
rs251213	0.84[EUR][1000 genomes]
rs251214	0.91[EUR][1000 genomes]
rs251387	0.81[EUR][1000 genomes]
rs251389	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251390	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs251391	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251393	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2568928	1.00[MKK][hapmap]
rs36693	0.84[EUR][1000 genomes]
rs36697	0.84[EUR][1000 genomes]
rs36698	0.84[EUR][1000 genomes]
rs36700	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs36702	0.83[EUR][1000 genomes]
rs3749748	1.00[LWK][hapmap];0.93[MKK][hapmap]
rs40527	0.82[EUR][1000 genomes]
rs790154	0.91[GIH][hapmap];0.88[MKK][hapmap]
rs790155	0.91[GIH][hapmap];0.93[MKK][hapmap]

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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs251216	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx
rs251216	FBN2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127534800-127544200	Weak transcription	Left Ventricle	heart
2	chr5:127537600-127549200	Weak transcription	A549	lung
3	chr5:127537600-127552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:127543000-127543800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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