Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11702077	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11702158	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2242948	0.81[ASN][1000 genomes]
rs2836894	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836896	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836897	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836898	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836899	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836900	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836903	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836904	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836905	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836906	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836908	0.86[ASN][1000 genomes]
rs2836909	0.84[ASN][1000 genomes]
rs2836911	0.84[ASN][1000 genomes]
rs2836912	0.81[ASN][1000 genomes]
rs34912726	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34989336	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4817990	0.88[ASN][1000 genomes]
rs56147949	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7510385	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8131292	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8131570	0.95[EUR][1000 genomes];0.93[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	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3338180	chr21:40504382-40508680	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40497800-40506200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:40503400-40505600	Enhancers	HepG2	liver
3	chr21:40503400-40508600	Weak transcription	Esophagus	oesophagus
4	chr21:40503600-40506200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:40503600-40508400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:40503800-40508800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:40504000-40508800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr21:40504200-40505000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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