Variant report

Variant	rs59085946
Chromosome Location	chr5:147744448-147744449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs60571666	0.80[AFR][1000 genomes]
rs73262415	1.00[AFR][1000 genomes]
rs73262419	1.00[AFR][1000 genomes]
rs73262421	1.00[AFR][1000 genomes]
rs73262464	1.00[AFR][1000 genomes]
rs73262467	1.00[AFR][1000 genomes]
rs73262487	1.00[AFR][1000 genomes]
rs73262488	1.00[AFR][1000 genomes]
rs73264521	1.00[AFR][1000 genomes]
rs73264538	1.00[AFR][1000 genomes]
rs73264579	0.89[AFR][1000 genomes]
rs73264581	0.85[AFR][1000 genomes]
rs73278512	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv3470753	chr5:147742345-147750111	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3470754	chr5:147742345-147750111	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv16005	chr5:147742531-147749953	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 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	chr5:147709400-147749200	Weak transcription	Psoas Muscle	Psoas
2	chr5:147723600-147751600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:147729200-147762200	Weak transcription	Aorta	Aorta
4	chr5:147730200-147754200	Weak transcription	Left Ventricle	heart
5	chr5:147743200-147744600	Enhancers	Liver	Liver

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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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