Variant report

Variant	rs60313972
Chromosome Location	chr4:55066778-55066779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11932776	1.00[AMR][1000 genomes]
rs35249513	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57735051	1.00[AMR][1000 genomes]
rs58366718	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60398195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6838383	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848460	1.00[AMR][1000 genomes]
rs6855053	1.00[AMR][1000 genomes]
rs73149594	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149600	0.87[AFR][1000 genomes]
rs73151406	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151429	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151433	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151435	0.95[AFR][1000 genomes]
rs73151456	1.00[AMR][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	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537097	chr4:55042698-55076041	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
4	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55064800-55069600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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