Variant report

Variant	rs66704172
Chromosome Location	chr5:44477202-44477203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1004720	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10512853	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10512855	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13158765	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13160481	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13160899	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13166702	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13169538	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13171351	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13176611	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13176804	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13182739	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13184756	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13188583	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13189872	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1482676	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16901855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16901879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16901889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16901892	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2062140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2128437	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34031522	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34057718	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34110145	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34180349	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34277429	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34414216	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34439572	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34462071	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34512854	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34611602	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34617631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34640244	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34810292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35074718	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35108601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35262233	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35321661	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35391530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35483918	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35517954	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35530450	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35544349	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35805621	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35947880	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55880927	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66479031	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66570818	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66815332	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67771916	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72748094	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830277	chr5:44383402-44566881	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1024923	chr5:44439853-44528314	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3425269	chr5:44461244-44487601	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44475600-44479400	Weak transcription	Fetal Lung	lung
2	chr5:44476600-44477800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:44476800-44477800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:44477000-44477800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:44477000-44477800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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