Variant report

Variant	rs6040212
Chromosome Location	chr20:10853777-10853778
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57856753	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6032972	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6032973	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6032981	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6032983	0.83[AMR][1000 genomes]
rs6040202	0.83[AMR][1000 genomes]
rs6040204	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6040205	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6040210	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6040230	0.83[AMR][1000 genomes]
rs73896405	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73896414	0.83[AMR][1000 genomes]
rs73896415	0.83[AMR][1000 genomes]
rs73896416	0.83[AMR][1000 genomes]
rs73896417	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912662	chr20:10823506-10864326	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 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	chr20:10845600-10856200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:10846400-10856200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:10851000-10863600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr20:10853400-10854000	Enhancers	NHEK	skin
5	chr20:10853600-10853800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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