Variant report

Variant	rs1001353
Chromosome Location	chr12:58483110-58483111
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2659664	0.85[AMR][1000 genomes]
rs2720170	0.85[AMR][1000 genomes]
rs73339713	0.81[AFR][1000 genomes]
rs73339729	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339735	0.83[AFR][1000 genomes];1.00[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	esv3502230	chr12:58458209-58490226	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3502241	chr12:58458223-58490223	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58479000-58484200	Weak transcription	Pancreas	Pancrea
2	chr12:58481200-58486800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr12:58482000-58485200	Weak transcription	Right Ventricle	heart
4	chr12:58482200-58486800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr12:58482400-58483200	Enhancers	Psoas Muscle	Psoas
6	chr12:58482800-58483200	Enhancers	Left Ventricle	heart

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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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