Variant report

Variant	rs28453248
Chromosome Location	chr5:42108438-42108439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10038605	0.85[AMR][1000 genomes]
rs10043233	0.85[AMR][1000 genomes]
rs10055579	0.85[AMR][1000 genomes]
rs10061546	0.85[AMR][1000 genomes]
rs10062415	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10062488	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10065700	0.85[AMR][1000 genomes]
rs10075533	0.85[AMR][1000 genomes]
rs10077196	0.85[AMR][1000 genomes]
rs10214156	0.88[AFR][1000 genomes]
rs10473266	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332782	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13355247	0.85[AMR][1000 genomes]
rs13356114	1.00[AMR][1000 genomes]
rs13357631	0.85[AMR][1000 genomes]
rs28530765	0.85[AMR][1000 genomes]
rs56705758	0.85[AMR][1000 genomes]
rs6886079	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6886712	0.85[AMR][1000 genomes]
rs73078045	0.87[AMR][1000 genomes]
rs73080081	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088271	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090140	0.85[AMR][1000 genomes]
rs73090159	0.85[AMR][1000 genomes]
rs7720817	1.00[AMR][1000 genomes]
rs7722048	1.00[AMR][1000 genomes]
rs7724293	1.00[AMR][1000 genomes]
rs7732413	0.85[AMR][1000 genomes]
rs7732650	0.85[AMR][1000 genomes]
rs7737752	1.00[AMR][1000 genomes]
rs9292847	0.85[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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	esv1843569	chr5:42008999-42128184	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1032171	chr5:42015138-42220940	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv462125	chr5:42019110-42192620	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv597885	chr5:42019110-42192620	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42107800-42109000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:42108400-42109600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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