Variant report

Variant	rs60408413
Chromosome Location	chr3:54068279-54068280
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:54058301..54060769-chr3:54067941..54069670,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs28385736	1.00[EUR][1000 genomes]
rs4358292	1.00[EUR][1000 genomes]
rs4364155	1.00[EUR][1000 genomes]
rs4687764	1.00[EUR][1000 genomes]
rs55940822	1.00[EUR][1000 genomes]
rs55971211	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59150035	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59801519	0.89[AMR][1000 genomes]
rs61026534	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6445623	1.00[EUR][1000 genomes]
rs6797145	1.00[EUR][1000 genomes]
rs72974991	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72975002	1.00[EUR][1000 genomes]
rs72976731	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72976732	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73841260	1.00[EUR][1000 genomes]
rs7613083	0.89[AMR][1000 genomes]
rs7623521	1.00[EUR][1000 genomes]
rs7645392	0.89[AMR][1000 genomes]
rs7650910	1.00[EUR][1000 genomes]
rs9812910	1.00[EUR][1000 genomes]
rs9863533	1.00[EUR][1000 genomes]
rs9864400	1.00[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	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
6	nsv967254	chr3:54061193-54072155	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54059600-54078000	Weak transcription	Right Atrium	heart
2	chr3:54067600-54069600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:54067800-54069800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:54067800-54069800	Enhancers	HMEC	breast
5	chr3:54068200-54069600	Weak transcription	Esophagus	oesophagus

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