Variant report

Variant	rs57594047
Chromosome Location	chr8:54781257-54781258
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11990964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57924266	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59128603	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60296248	1.00[AMR][1000 genomes]
rs60437052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60515635	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680313	1.00[AMR][1000 genomes]
rs73680331	0.84[AFR][1000 genomes]
rs73680334	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680336	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680345	1.00[EUR][1000 genomes]
rs73680347	1.00[EUR][1000 genomes]
rs73680348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680350	1.00[AMR][1000 genomes];1.00[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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr8:54777800-54784200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:54778200-54787200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:54780000-54781600	Enhancers	HMEC	breast
4	chr8:54780200-54781400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:54780200-54781600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:54780400-54782400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:54781000-54781600	Enhancers	NHEK	skin

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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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