Variant report

Variant	rs59364594
Chromosome Location	chr8:117634425-117634426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11987050	0.85[AMR][1000 genomes]
rs1529944	0.80[AMR][1000 genomes]
rs1968495	0.80[AMR][1000 genomes]
rs7003608	0.80[AMR][1000 genomes]
rs7003645	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv2757288	chr8:117623719-117645687	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
3	esv2759638	chr8:117623719-117645687	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv1016449	chr8:117630683-117644145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1024038	chr8:117630683-117645687	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1020480	chr8:117630683-117652448	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117631200-117635400	Weak transcription	Fetal Lung	lung
2	chr8:117631200-117635400	Weak transcription	Right Atrium	heart
3	chr8:117631200-117641600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:117631400-117635400	Weak transcription	Fetal Stomach	stomach
5	chr8:117631600-117635600	Weak transcription	Left Ventricle	heart
6	chr8:117634400-117634600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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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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