Variant report

Variant	rs4888099
Chromosome Location	chr16:80607434-80607435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4243203	0.88[AFR][1000 genomes]
rs4328454	0.85[AFR][1000 genomes]
rs4424918	0.85[AFR][1000 genomes]
rs4888097	0.87[AFR][1000 genomes]
rs4888098	0.88[AFR][1000 genomes]
rs59913506	0.97[AFR][1000 genomes]
rs7184570	1.00[AMR][1000 genomes]
rs7206412	1.00[AMR][1000 genomes]
rs74028307	0.95[AFR][1000 genomes]
rs74031517	0.97[AFR][1000 genomes]
rs8050197	1.00[ASW][hapmap];1.00[YRI][hapmap];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	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80599000-80607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:80605200-80608200	Enhancers	Placenta	Placenta
3	chr16:80605400-80611200	Weak transcription	Gastric	stomach
4	chr16:80607200-80607800	Active TSS	H1 Derived Mesenchymal Stem 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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