Variant report

Variant	rs72733814
Chromosome Location	chr5:8396678-8396679
allele	A/G
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:12)

rs_ID	r²[population]
rs11134313	0.85[EUR][1000 genomes]
rs11747903	0.87[EUR][1000 genomes]
rs1448231	0.86[EUR][1000 genomes]
rs1448232	0.86[EUR][1000 genomes]
rs17213483	0.87[EUR][1000 genomes]
rs17279507	0.87[EUR][1000 genomes]
rs2662287	0.85[EUR][1000 genomes]
rs2940549	0.85[EUR][1000 genomes]
rs35251251	0.86[EUR][1000 genomes]
rs72733812	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72733823	0.83[EUR][1000 genomes]
rs72733834	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033505	chr5:8258074-8657627	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv537634	chr5:8258074-8657627	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026496	chr5:8275119-8681693	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
4	nsv537635	chr5:8275119-8681693	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
5	nsv427709	chr5:8353876-8519855	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv881034	chr5:8376813-8499567	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 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	chr5:8395800-8397600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:8396000-8397600	Enhancers	NHDF-Ad	bronchial
3	chr5:8396200-8396800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:8396200-8397200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:8396200-8397200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:8396200-8397400	Enhancers	NHLF	lung
7	chr5:8396400-8396800	Weak transcription	HSMMtube	muscle

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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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