Variant report

Variant	rs56212014
Chromosome Location	chr21:28472622-28472623
allele	A/G
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]
rs11701686	0.94[ASN][1000 genomes]
rs11702316	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2027706	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2027707	0.86[ASN][1000 genomes]
rs2027708	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2027709	0.86[ASN][1000 genomes]
rs2212822	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2212823	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2226779	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2226780	0.90[ASN][1000 genomes]
rs4817152	0.94[ASN][1000 genomes]
rs4817153	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4817154	0.86[ASN][1000 genomes]
rs4817155	0.86[ASN][1000 genomes]
rs56204727	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62222953	0.82[ASN][1000 genomes]
rs7275806	0.86[ASN][1000 genomes]
rs7279803	0.94[ASN][1000 genomes]
rs8129454	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8129669	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs8129706	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs955742	0.86[ASN][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	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28458800-28477600	Weak transcription	Fetal Kidney	kidney
2	chr21:28472000-28477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

Quick Search:

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

what's new

Quick links