Variant report

Variant	rs73682517
Chromosome Location	chr8:54544428-54544429
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55987824	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58217168	0.93[AFR][1000 genomes]
rs59844317	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7016708	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682514	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682521	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682525	0.88[AFR][1000 genomes];1.00[AMR][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	esv3335953	chr8:54529448-54557707	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
8	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54544200-54545000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr8:54544200-54545000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:54544200-54545000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:54544200-54545000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:54544200-54545600	Enhancers	Placenta	Placenta
6	chr8:54544400-54544800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:54544400-54544800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:54544400-54545200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:54544400-54545200	Enhancers	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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