Variant report

Variant	rs62216546
Chromosome Location	chr21:27970290-27970291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12626569	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55717619	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55769509	0.93[AMR][1000 genomes]
rs55850110	0.85[AMR][1000 genomes]
rs56380215	0.86[EUR][1000 genomes]
rs62215671	0.80[EUR][1000 genomes]
rs62216528	0.88[EUR][1000 genomes]
rs62216530	0.85[AMR][1000 genomes]
rs62216531	0.85[AMR][1000 genomes]
rs62216532	0.88[EUR][1000 genomes]
rs62216538	0.93[AMR][1000 genomes]
rs62216541	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62216544	0.90[EUR][1000 genomes]
rs62216549	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7277801	0.80[EUR][1000 genomes]
rs73180849	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8134193	0.93[AMR][1000 genomes]
rs9980300	0.92[ASN][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:6 , 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
6	chr21:27970200-27970800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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