Variant report

Variant	rs73682527
Chromosome Location	chr8:54564644-54564645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10093917	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28414831	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28679737	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6473873	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6983490	0.86[EUR][1000 genomes]
rs6987393	0.86[EUR][1000 genomes]
rs7001915	0.85[AFR][1000 genomes]
rs7009706	0.87[EUR][1000 genomes]
rs73680192	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73680445	0.86[EUR][1000 genomes]
rs73680446	0.86[EUR][1000 genomes]
rs73682504	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73682506	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7825111	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv1830188	chr8:54520350-54601462	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv890919	chr8:54521248-54607336	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv1020081	chr8:54528266-54592073	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	nsv611381	chr8:54528760-54589344	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1030947	chr8:54535233-54592073	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	nsv890920	chr8:54559770-54626539	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54555000-54569600	Weak transcription	Right Atrium	heart
2	chr8:54558200-54569800	Weak transcription	Aorta	Aorta
3	chr8:54562800-54569000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:54563400-54569000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:54563400-54569400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:54563800-54565000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr8:54564000-54564800	Flanking Active TSS	Fetal Heart	heart
8	chr8:54564600-54564800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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