Variant report

Variant	rs605458
Chromosome Location	chr13:30551425-30551426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs489481	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs490221	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs494911	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs515442	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs524155	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs545360	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs546514	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs552745	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs561605	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs563520	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs597242	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs602909	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs610545	0.98[EUR][1000 genomes]
rs630535	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640583	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs645966	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs653257	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs669073	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30547800-30552400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30550600-30551600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:30550600-30552400	Enhancers	Fetal Lung	lung
4	chr13:30551000-30552200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:30551000-30552600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:30551200-30551800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:30551400-30552600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte 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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