Variant report

Variant	rs229109
Chromosome Location	chr21:28240574-28240575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1036988	0.97[ASN][1000 genomes]
rs151056	0.81[EUR][1000 genomes]
rs162488	0.82[EUR][1000 genomes]
rs162490	0.87[EUR][1000 genomes]
rs162491	0.82[EUR][1000 genomes]
rs162492	0.82[EUR][1000 genomes]
rs162493	0.82[EUR][1000 genomes]
rs162496	0.81[EUR][1000 genomes]
rs162497	0.81[EUR][1000 genomes]
rs162498	0.86[EUR][1000 genomes]
rs162499	0.81[EUR][1000 genomes]
rs162516	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs162520	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs162521	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs162531	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs162532	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs162533	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs162534	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs162535	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs162536	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs162537	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs162538	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs162539	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs162540	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs162541	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs229045	0.81[EUR][1000 genomes]
rs229046	0.81[EUR][1000 genomes]
rs229060	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229061	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229063	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229064	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229069	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229071	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229076	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229078	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229079	0.84[EUR][1000 genomes]
rs229087	0.90[EUR][1000 genomes]
rs229088	0.90[EUR][1000 genomes]
rs229089	0.90[EUR][1000 genomes]
rs229090	0.82[EUR][1000 genomes]
rs229091	0.87[EUR][1000 genomes]
rs229093	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs229095	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs229097	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs229103	0.93[EUR][1000 genomes]
rs229110	0.96[EUR][1000 genomes]
rs233899	0.83[EUR][1000 genomes]
rs233900	0.83[EUR][1000 genomes]
rs2830556	0.93[EUR][1000 genomes]
rs2830558	0.88[EUR][1000 genomes]
rs2830584	0.82[EUR][1000 genomes]
rs389125	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs431134	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7281968	0.82[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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28240000-28240600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr21:28240200-28240600	Enhancers	HUES64 Cell Line	embryonic stem cell

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