Variant report

Variant	rs28453927
Chromosome Location	chr16:48140237-48140238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12103017	1.00[AMR][1000 genomes]
rs13330953	1.00[AMR][1000 genomes]
rs13331464	1.00[AMR][1000 genomes]
rs13333856	1.00[AFR][1000 genomes]
rs13334188	1.00[AMR][1000 genomes]
rs13334216	1.00[AMR][1000 genomes]
rs13335518	1.00[AMR][1000 genomes]
rs13336274	1.00[AMR][1000 genomes]
rs28560105	1.00[AFR][1000 genomes]
rs28561423	1.00[AMR][1000 genomes]
rs28570519	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935240	1.00[AFR][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	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48136200-48141600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:48138000-48143000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr16:48139000-48140400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:48139200-48151000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:48139800-48141000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr16:48139800-48142800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:48140000-48141000	Enhancers	Fetal Brain Male	brain
8	chr16:48140200-48140400	Bivalent Enhancer	Foreskin Fibroblast 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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