Variant report

Variant	rs61137573
Chromosome Location	chr21:28736523-28736524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11908996	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909025	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909091	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910396	1.00[AMR][1000 genomes]
rs11910835	1.00[AMR][1000 genomes]
rs11911965	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16980399	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16980453	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16997563	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16997565	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4306780	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58245320	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7275570	0.84[AFR][1000 genomes]
rs7280599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7280962	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7281874	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383398	1.00[AMR][1000 genomes]
rs8133836	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133867	1.00[AMR][1000 genomes]
rs8133939	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8134381	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8134884	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv1831608	chr21:28659037-28738059	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 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	chr21:28732000-28736600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr21:28732400-28737600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:28736000-28736600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr21:28736200-28736800	Enhancers	NHDF-Ad	bronchial
5	chr21:28736400-28736800	Enhancers	Adipose Derived Mesenchymal Stem Cell 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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