Variant report

Variant	rs58247839
Chromosome Location	chr19:40117679-40117680
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:15)

rs_ID	r²[population]
rs10403702	1.00[EUR][1000 genomes]
rs10416827	1.00[EUR][1000 genomes]
rs10418622	1.00[EUR][1000 genomes]
rs10425882	1.00[EUR][1000 genomes]
rs10427144	1.00[EUR][1000 genomes]
rs16973535	1.00[EUR][1000 genomes]
rs1860133	1.00[EUR][1000 genomes]
rs28813130	1.00[EUR][1000 genomes]
rs58824692	1.00[EUR][1000 genomes]
rs59933428	1.00[EUR][1000 genomes]
rs7248592	1.00[EUR][1000 genomes]
rs73555856	1.00[EUR][1000 genomes]
rs73555858	1.00[EUR][1000 genomes]
rs73555863	1.00[EUR][1000 genomes]
rs8109558	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	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv34120	chr19:40044635-40131820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40114800-40121800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:40115200-40120400	Weak transcription	Placenta	Placenta

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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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