Variant report

Variant	rs72873082
Chromosome Location	chr4:94607947-94607948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17021046	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1836645	1.00[AMR][1000 genomes]
rs57519646	1.00[AMR][1000 genomes]
rs60111157	1.00[AMR][1000 genomes]
rs6816016	1.00[AMR][1000 genomes]
rs72873019	1.00[AMR][1000 genomes]
rs72873075	1.00[AMR][1000 genomes]
rs72873091	1.00[AMR][1000 genomes]
rs72873102	1.00[AMR][1000 genomes]
rs72875904	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72875921	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72875934	0.85[AFR][1000 genomes]
rs72875938	0.82[AFR][1000 genomes]
rs72875960	0.81[AFR][1000 genomes]
rs72875970	0.86[AFR][1000 genomes]
rs72889179	1.00[AMR][1000 genomes]
rs72889180	1.00[AMR][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	nsv1008055	chr4:94169131-95030074	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv931979	chr4:94289958-95121723	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv830009	chr4:94438751-94632656	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv821636	chr4:94439636-95116590	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2830335	chr4:94440026-94629367	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1013018	chr4:94526959-94735442	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94602000-94608000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:94607000-94612600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:94607800-94608600	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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