Variant report

Variant	rs265594
Chromosome Location	chr12:58497986-58497987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs265574	0.86[AFR][1000 genomes]
rs265576	0.87[AFR][1000 genomes]
rs265578	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs265581	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs265582	0.92[AFR][1000 genomes]
rs265583	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs265584	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs265585	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs265591	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs265592	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs265595	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2659655	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2733440	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7132079	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7973502	0.85[AFR][1000 genomes];0.87[AMR][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	nsv899124	chr12:58391839-58883507	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2830232	chr12:58470456-58498926	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv729	chr12:58490094-58535466	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2760225	chr12:58490832-58514112	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58496800-58499800	Enhancers	Fetal Muscle Leg	muscle
2	chr12:58497200-58498400	Weak transcription	Right Ventricle	heart
3	chr12:58497800-58498000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr12:58497800-58498200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr12:58497800-58499200	Enhancers	Pancreas	Pancrea

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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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