Variant report

Variant	rs11722700
Chromosome Location	chr4:47920732-47920733
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10517201	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10938502	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10938509	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11737879	0.83[ASN][1000 genomes]
rs11933101	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11934632	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11937912	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11940319	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11940441	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12501861	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12501949	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12505333	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12506863	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12509420	0.86[AMR][1000 genomes]
rs12509520	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12510304	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12512884	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12512988	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12513157	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1465885	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17463534	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17573717	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1822029	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1965804	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1992326	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2165263	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2882949	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34449323	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4031458	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4405986	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4475122	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4518214	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4695278	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4695317	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55844485	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56084299	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56384707	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56686194	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56971681	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57159058	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60535228	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62298261	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62298266	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62298267	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62298302	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62298303	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62298344	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62299256	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62299257	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62299258	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62299259	0.85[ASN][1000 genomes]
rs62301160	0.89[ASN][1000 genomes]
rs62301163	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6447585	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6447591	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs66901846	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6816253	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6819172	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6820636	0.85[AMR][1000 genomes]
rs6833422	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6844066	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6845064	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6848667	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7654965	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7690499	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7699225	0.89[AMR][1000 genomes];0.86[ASN][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11722700	CORIN	cis	Whole Blood	GTEx
rs11722700	NFXL1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47918200-47924400	Weak transcription	Monocytes-CD14+_RO01746	blood

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