Variant report

Variant	rs12454517
Chromosome Location	chr18:40288539-40288540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10163703	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10163713	0.85[AMR][1000 genomes]
rs10164178	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11082285	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11082287	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11082288	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11082289	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11082295	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11874622	0.85[AMR][1000 genomes]
rs11877370	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11877822	0.89[AMR][1000 genomes]
rs12185391	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12327031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12454240	0.86[AMR][1000 genomes]
rs12454508	0.85[AMR][1000 genomes]
rs12456487	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12456690	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12457363	0.89[AMR][1000 genomes]
rs12458032	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12604180	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12605774	0.87[AMR][1000 genomes]
rs12605791	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1430905	0.85[AMR][1000 genomes]
rs1430907	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1430909	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1594433	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16976497	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16976532	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16976733	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17703491	0.81[EUR][1000 genomes]
rs1943173	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2068500	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2099220	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2163383	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3850129	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3861286	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3910099	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3910102	0.85[AMR][1000 genomes]
rs60850907	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs718571	0.85[AMR][1000 genomes]
rs7228411	0.86[AMR][1000 genomes]
rs7234842	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72895369	0.87[AMR][1000 genomes]
rs72895388	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72895391	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72895392	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72897419	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72897444	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72897453	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72897467	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72899469	0.81[EUR][1000 genomes]
rs72899472	0.85[EUR][1000 genomes]
rs8084832	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8092214	0.89[AMR][1000 genomes]
rs8097989	0.81[AMR][1000 genomes]
rs8099114	0.85[AMR][1000 genomes]
rs9709508	0.80[AMR][1000 genomes]
rs988109	0.85[AMR][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	esv3447158	chr18:40045478-40320720	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv833632	chr18:40187679-40388058	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1056794	chr18:40197837-40688514	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40288200-40288800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:40288200-40289000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:40288400-40288600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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