Variant report

Variant	rs348515
Chromosome Location	chr4:45194136-45194137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16858155	1.00[AMR][1000 genomes]
rs16858167	1.00[AMR][1000 genomes]
rs16858292	1.00[AMR][1000 genomes]
rs238770	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348502	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348503	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348504	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348505	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348506	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348508	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348521	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348526	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348528	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348530	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs987723	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531944	chr4:44299343-45200700	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1014327	chr4:44735209-45218149	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv829919	chr4:45069901-45253808	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv594104	chr4:45105210-45665828	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv461349	chr4:45175691-45265046	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv594105	chr4:45175691-45265046	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv878984	chr4:45191856-45321022	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45194000-45194800	Weak transcription	Fetal Heart	heart

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