Variant report

Variant	rs16952297
Chromosome Location	chr16:80126419-80126420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10514481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952319	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16952339	0.85[AFR][1000 genomes]
rs16952360	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16952361	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16952363	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16952367	0.87[AMR][1000 genomes]
rs16952390	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16952423	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16952439	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16952442	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16952521	0.87[AMR][1000 genomes]
rs5009136	0.87[AMR][1000 genomes]
rs60927300	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7201069	0.87[AMR][1000 genomes]
rs73571910	0.87[AMR][1000 genomes]
rs73583872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583885	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583898	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73585976	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73585982	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv906995	chr16:80094975-80166677	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr16:80125600-80126800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:80125600-80126800	Enhancers	NHEK	skin
3	chr16:80125600-80127000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr16:80125600-80127000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:80125600-80127000	Enhancers	HMEC	breast
6	chr16:80126200-80126600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:80126200-80127000	Enhancers	Brain Germinal Matrix	brain
8	chr16:80126400-80126600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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