Variant report

Variant	rs58828387
Chromosome Location	chr12:68127462-68127463
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11176784	1.00[EUR][1000 genomes]
rs12309271	1.00[EUR][1000 genomes]
rs12321292	1.00[EUR][1000 genomes]
rs57329873	1.00[EUR][1000 genomes]
rs58233262	1.00[EUR][1000 genomes]
rs7297341	1.00[EUR][1000 genomes]
rs73320687	1.00[EUR][1000 genomes]
rs74099722	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3430007	chr12:67947726-68241938	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr12:68122200-68129800	Weak transcription	Left Ventricle	heart
2	chr12:68125600-68127800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr12:68126800-68128000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:68126800-68129800	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:68126800-68129800	Weak transcription	Psoas Muscle	Psoas
6	chr12:68127200-68128800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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