Variant report

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1236213	0.96[ASN][1000 genomes]
rs1236214	0.99[ASN][1000 genomes]
rs1236215	0.97[ASN][1000 genomes]
rs1236216	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1236217	0.97[ASN][1000 genomes]
rs13052896	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2187293	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2212816	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs233586	0.87[EUR][1000 genomes]
rs2830655	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2830659	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2830662	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2830689	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830698	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2830715	0.86[ASN][1000 genomes]
rs2830716	0.86[ASN][1000 genomes]
rs34618216	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs371445	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs417783	0.87[EUR][1000 genomes]
rs580945	0.87[EUR][1000 genomes]
rs658034	0.87[EUR][1000 genomes]
rs7275831	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7278373	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7278482	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7278648	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9980759	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[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	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2830684	NCRNA00161	cis	cerebellum	SCAN
rs2830684	ADAMTS5	cis	cerebellum	SCAN
rs2830684	NCRNA00161	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28458800-28477600	Weak transcription	Fetal Kidney	kidney
2	chr21:28471200-28471600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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