Variant report

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

rs_ID	r²[population]
rs10880704	0.88[ASN][1000 genomes]
rs10880718	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10880730	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11182811	0.80[EUR][1000 genomes]
rs1118481	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1224436	0.89[EUR][1000 genomes]
rs1495034	0.84[EUR][1000 genomes]
rs1495035	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1495036	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1857924	0.92[EUR][1000 genomes]
rs1857925	0.92[EUR][1000 genomes]
rs2408140	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2544102	0.82[EUR][1000 genomes]
rs2643140	0.82[EUR][1000 genomes]
rs2731040	0.81[EUR][1000 genomes]
rs2731053	0.82[EUR][1000 genomes]
rs2731054	0.82[EUR][1000 genomes]
rs4285943	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4561266	0.84[EUR][1000 genomes]
rs7963606	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7964973	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899049	chr12:45299202-45376053	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899050	chr12:45299202-45400614	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899051	chr12:45307633-45376053	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv527565	chr12:45319767-45365812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3407092	chr12:45342734-45368068	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1857926	RP11-478B9.2	cis	Skin Sun Exposed Lower leg	GTEx
rs1857926	DBX2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45342800-45344600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:45344400-45345000	Active TSS	K562	blood
3	chr12:45344400-45345200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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