Variant report

Variant	rs28812028
Chromosome Location	chr2:39803832-39803833
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11680972	0.91[EUR][1000 genomes]
rs11686518	0.85[EUR][1000 genomes]
rs12470310	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13031765	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17474808	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4992380	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6544235	0.81[ASN][1000 genomes]
rs6706561	0.86[EUR][1000 genomes]
rs6740771	0.83[EUR][1000 genomes]
rs7586289	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:39798800-39808200	Weak transcription	Liver	Liver
2	chr2:39799000-39810600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:39799400-39808200	Weak transcription	HepG2	liver
4	chr2:39799400-39811600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:39799600-39820800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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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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