Variant report

Variant	rs2000547
Chromosome Location	chr21:37898358-37898359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37897297..37900061-chr21:37900789..37903284,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11088353	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11088354	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2070518	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2187302	0.84[ASN][1000 genomes]
rs2187303	0.81[ASN][1000 genomes]
rs2835379	0.81[AMR][1000 genomes]
rs367166	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs376218	0.80[EUR][1000 genomes]
rs398591	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs399711	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs400019	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs400267	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs400544	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs404515	0.80[EUR][1000 genomes]
rs412775	0.80[EUR][1000 genomes]
rs413616	0.80[EUR][1000 genomes]
rs439888	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs441734	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs443968	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs448332	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs448687	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs449547	0.80[EUR][1000 genomes]
rs453539	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4816539	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6517359	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7281531	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7282508	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7510508	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs928839	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9976609	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37894800-37898800	Weak transcription	Right Atrium	heart
2	chr21:37895800-37902600	Weak transcription	GM12878-XiMat	blood
3	chr21:37897000-37911600	Weak transcription	Pancreas	Pancrea
4	chr21:37897600-37902200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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