Variant report

Variant	rs59317497
Chromosome Location	chr21:27970141-27970142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1893576	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2830282	0.81[AFR][1000 genomes]
rs2830293	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2830294	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28404770	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57795228	1.00[EUR][1000 genomes]
rs57821067	0.88[AFR][1000 genomes]
rs73898272	0.93[EUR][1000 genomes]
rs73898279	0.93[EUR][1000 genomes]
rs73898281	0.93[EUR][1000 genomes]
rs73898282	0.93[EUR][1000 genomes]
rs73898283	1.00[EUR][1000 genomes]
rs8128643	0.93[EUR][1000 genomes]
rs9977977	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9979121	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9979840	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9980300	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9984233	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9984431	0.94[AMR][1000 genomes];0.93[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	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv544413	chr21:27942060-28065995	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27969200-27973200	Enhancers	Dnd41	blood
2	chr21:27969400-27970400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr21:27969600-27971000	Enhancers	NHEK	skin
4	chr21:27970000-27970400	Enhancers	HMEC	breast
5	chr21:27970000-27970800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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Input of quick search could be:

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

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