Variant report

Variant	rs58553205
Chromosome Location	chr2:101138713-101138714
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10193824	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11690911	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1437975	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1437980	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1519654	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1519662	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2176733	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2309853	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2309855	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4613309	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4850933	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4851322	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4851326	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6542952	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6542953	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6716842	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7369893	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9308836	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs954846	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs962555	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs962556	0.91[AMR][1000 genomes];0.82[EUR][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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101135600-101140000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:101135600-101140000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:101136800-101149000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:101138600-101139600	Enhancers	Fetal Intestine Large	intestine

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