Variant report

Variant	rs72976710
Chromosome Location	chr3:54055228-54055229
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:20)

rs_ID	r²[population]
rs10049404	1.00[AFR][1000 genomes]
rs58649828	1.00[AFR][1000 genomes]
rs59501182	0.94[AFR][1000 genomes]
rs60794910	0.94[AFR][1000 genomes]
rs61679510	0.94[AFR][1000 genomes]
rs6768620	1.00[AFR][1000 genomes]
rs6803364	0.94[AFR][1000 genomes]
rs72974992	0.94[AFR][1000 genomes]
rs72976714	0.89[AFR][1000 genomes]
rs72976725	0.84[AFR][1000 genomes]
rs72976728	0.84[AFR][1000 genomes]
rs7432679	0.94[AFR][1000 genomes]
rs7630169	1.00[AFR][1000 genomes]
rs9311521	1.00[AFR][1000 genomes]
rs9815905	0.94[AFR][1000 genomes]
rs9819951	0.80[AFR][1000 genomes]
rs9852767	0.94[AFR][1000 genomes]
rs9853506	0.94[AFR][1000 genomes]
rs9864147	1.00[AFR][1000 genomes]
rs9876974	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1014752	chr3:53912429-54123246	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1005411	chr3:53927782-54158638	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54054800-54055400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:54054800-54060000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:54055200-54059200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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