Variant report

Variant	rs71619953
Chromosome Location	chr5:52686353-52686354
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10805448	0.81[ASN][1000 genomes]
rs10940312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10940313	0.82[ASN][1000 genomes]
rs10940315	0.80[ASN][1000 genomes]
rs10940316	0.80[ASN][1000 genomes]
rs11738755	0.82[ASN][1000 genomes]
rs11740067	0.84[ASN][1000 genomes]
rs11740573	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11741680	0.80[ASN][1000 genomes]
rs11741921	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11742633	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11743473	0.82[ASN][1000 genomes]
rs11744360	0.84[ASN][1000 genomes]
rs11745102	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11745979	0.80[ASN][1000 genomes]
rs11746341	0.84[ASN][1000 genomes]
rs11746509	0.80[ASN][1000 genomes]
rs11746732	0.80[ASN][1000 genomes]
rs11747948	0.81[ASN][1000 genomes]
rs11748130	0.84[ASN][1000 genomes]
rs11748797	0.80[ASN][1000 genomes]
rs11748901	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11955043	0.80[ASN][1000 genomes]
rs12153178	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12153556	0.90[ASN][1000 genomes]
rs12153680	0.82[ASN][1000 genomes]
rs13153643	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13156108	0.84[ASN][1000 genomes]
rs13157909	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13161996	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13162095	0.84[ASN][1000 genomes]
rs13162472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163048	0.82[ASN][1000 genomes]
rs13163361	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167150	0.84[ASN][1000 genomes]
rs13169091	0.84[ASN][1000 genomes]
rs13169122	0.84[ASN][1000 genomes]
rs13170709	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13171352	0.80[ASN][1000 genomes]
rs13171813	0.80[ASN][1000 genomes]
rs13174728	0.82[ASN][1000 genomes]
rs13175176	0.84[ASN][1000 genomes]
rs13175475	0.80[ASN][1000 genomes]
rs13176442	0.84[ASN][1000 genomes]
rs13176460	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13178720	0.82[ASN][1000 genomes]
rs13179666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13183277	0.80[ASN][1000 genomes]
rs13188772	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13189230	0.84[ASN][1000 genomes]
rs1423549	0.93[ASN][1000 genomes]
rs1423559	0.93[ASN][1000 genomes]
rs34256928	0.80[ASN][1000 genomes]
rs34274925	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34437756	0.84[ASN][1000 genomes]
rs34444043	0.82[ASN][1000 genomes]
rs34483113	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34492969	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34547502	0.82[ASN][1000 genomes]
rs34690366	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34737247	0.82[ASN][1000 genomes]
rs34744728	0.81[ASN][1000 genomes]
rs34750307	0.81[ASN][1000 genomes]
rs34762534	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34801686	0.80[ASN][1000 genomes]
rs34924451	0.81[ASN][1000 genomes]
rs34942708	0.80[ASN][1000 genomes]
rs34985749	0.81[ASN][1000 genomes]
rs35152485	0.84[ASN][1000 genomes]
rs35201567	0.80[ASN][1000 genomes]
rs35237162	0.80[ASN][1000 genomes]
rs35257227	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35314846	0.82[ASN][1000 genomes]
rs35573280	0.84[ASN][1000 genomes]
rs35581888	0.81[ASN][1000 genomes]
rs35586638	0.80[ASN][1000 genomes]
rs35636180	0.82[ASN][1000 genomes]
rs35930552	0.80[ASN][1000 genomes]
rs36125518	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4131065	0.80[ASN][1000 genomes]
rs4254863	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4254864	0.80[ASN][1000 genomes]
rs4274942	0.80[ASN][1000 genomes]
rs4279297	0.95[ASN][1000 genomes]
rs4301187	0.80[ASN][1000 genomes]
rs4421065	0.81[ASN][1000 genomes]
rs4499786	0.80[ASN][1000 genomes]
rs4535418	0.80[ASN][1000 genomes]
rs4568325	0.80[ASN][1000 genomes]
rs55880944	0.80[ASN][1000 genomes]
rs56285131	0.84[ASN][1000 genomes]
rs62357814	0.82[ASN][1000 genomes]
rs62357815	0.82[ASN][1000 genomes]
rs62357825	0.84[ASN][1000 genomes]
rs62357827	0.84[ASN][1000 genomes]
rs62357829	0.80[ASN][1000 genomes]
rs62357837	0.80[ASN][1000 genomes]
rs62357857	0.80[ASN][1000 genomes]
rs62357858	0.80[ASN][1000 genomes]
rs62359263	0.80[ASN][1000 genomes]
rs71592629	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv508356	chr5:52646168-52703120	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52684200-52686400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:52686200-52686800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:52686200-52686800	Enhancers	NHDF-Ad	bronchial
4	chr5:52686200-52686800	Enhancers	NHLF	lung
5	chr5:52686200-52687800	Enhancers	Osteobl	bone

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