Variant report

Variant	rs1677320
Chromosome Location	chr5:111359644-111359645
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs152291	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs152553	0.84[AMR][1000 genomes]
rs154082	0.89[AMR][1000 genomes]
rs154083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs154092	0.94[EUR][1000 genomes]
rs154142	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs154143	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1644466	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs168876	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs171738	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs173583	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs173900	0.87[EUR][1000 genomes]
rs185345	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs248745	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs248746	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs248747	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs256036	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs256037	0.92[EUR][1000 genomes]
rs256046	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26437	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26571	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs26572	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs26573	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2913546	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs388450	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs458532	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55684472	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55954860	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56079425	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs696829	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs698403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786287	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72786291	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72786292	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72786301	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72788210	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788217	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2829846	chr5:111341445-111435769	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	esv2763484	chr5:111352353-111371959	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111359400-111359800	Enhancers	Dnd41	blood
2	chr5:111359400-111362200	Enhancers	GM12878-XiMat	blood
3	chr5:111359600-111359800	Enhancers	Fetal Brain Male	brain
4	chr5:111359600-111360400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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