Variant report

Variant	rs12545078
Chromosome Location	chr8:54514901-54514902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10958374	0.97[EUR][1000 genomes]
rs10958387	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11774639	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11776780	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11778944	0.98[EUR][1000 genomes]
rs11778957	0.94[EUR][1000 genomes]
rs11781639	0.98[EUR][1000 genomes]
rs11783135	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11785567	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11787275	0.97[EUR][1000 genomes]
rs12155632	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12549792	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13263182	0.96[EUR][1000 genomes]
rs13266530	0.98[EUR][1000 genomes]
rs13267322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268090	0.98[EUR][1000 genomes]
rs13275975	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13282375	0.81[AMR][1000 genomes]
rs1551912	0.97[EUR][1000 genomes]
rs35341975	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7464047	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7815156	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813750	chr8:54471135-54528984	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv12044	chr8:54510310-54518345	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
5	esv15341	chr8:54510310-54529246	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
6	esv1792207	chr8:54511857-54521590	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
7	esv1792574	chr8:54511857-54521590	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
8	nsv611379	chr8:54512490-54516605	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
9	nsv611380	chr8:54512490-54517208	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54511400-54516000	Weak transcription	Aorta	Aorta

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