Variant report

Variant	rs380723
Chromosome Location	chr21:37995539-37995540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13047867	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1571698	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1888463	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2734398	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2734399	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2835403	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2845771	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4816543	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs914147	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9808728	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9977224	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9977245	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9983027	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv2762111	chr21:37967924-38023546	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3432966	chr21:37994321-37996737	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37979600-37999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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