Variant report

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

rs_ID	r²[population]
rs10880326	1.00[ASN][1000 genomes]
rs11181577	0.81[AFR][1000 genomes]
rs11181580	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11181590	1.00[ASN][1000 genomes]
rs11503816	1.00[ASN][1000 genomes]
rs12296529	0.85[EUR][1000 genomes]
rs12297892	1.00[ASN][1000 genomes]
rs12307894	1.00[ASN][1000 genomes]
rs12308577	1.00[ASN][1000 genomes]
rs12322671	0.86[ASN][1000 genomes]
rs2406864	1.00[EUR][1000 genomes]
rs4768022	0.85[EUR][1000 genomes]
rs57557308	1.00[ASN][1000 genomes]
rs60260585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133912	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7303271	1.00[ASN][1000 genomes]
rs7313623	1.00[ASN][1000 genomes]
rs7316762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279719	0.81[AFR][1000 genomes]
rs7962244	0.85[EUR][1000 genomes]
rs7963825	1.00[ASN][1000 genomes]
rs7977195	1.00[ASN][1000 genomes]
rs7979122	0.85[EUR][1000 genomes];0.85[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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43001400-43005200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:43001600-43004200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:43002800-43003600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:43002800-43007400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:43003400-43003800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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