Variant report

Variant	rs60217143
Chromosome Location	chr8:91242519-91242520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58393960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60471107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7004700	1.00[AMR][1000 genomes]
rs73295228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295282	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297267	1.00[AMR][1000 genomes]
rs73297274	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297287	0.81[AFR][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	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr8:91240200-91244200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:91240600-91244800	Enhancers	Hela-S3	cervix
3	chr8:91241200-91243400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:91241400-91243400	Weak transcription	HMEC	breast
5	chr8:91241400-91243400	Weak transcription	NHEK	skin
6	chr8:91242000-91242800	Enhancers	K562	blood
7	chr8:91242400-91244000	Enhancers	Primary monocytes fromperipheralblood	blood

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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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