Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12426632	0.86[EUR][1000 genomes]
rs2220130	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs302311	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs302312	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs302314	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs371579	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs373268	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs381915	0.86[ASN][1000 genomes]
rs401095	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs405311	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs409351	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs409495	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs412124	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs413754	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs415456	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs419194	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs427816	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs431321	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs437809	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs440391	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs448334	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs450014	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs454324	0.86[AMR][1000 genomes];0.95[EUR][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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv526146	chr12:29989292-30112823	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29991600-29997600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29994000-29996600	Enhancers	Fetal Brain Male	brain
3	chr12:29994200-29995000	Weak transcription	Fetal Lung	lung

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