Variant report

Variant	rs2372993
Chromosome Location	chr2:37561929-37561930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10177176	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10190959	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11124574	0.83[EUR][1000 genomes]
rs11124578	0.84[ASN][1000 genomes]
rs1158218	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1158219	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11679617	0.83[EUR][1000 genomes]
rs11682607	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11683872	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11689794	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11893943	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12616151	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12618410	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12712532	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13015451	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13030789	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17020490	0.81[ASN][1000 genomes]
rs2041836	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2268987	0.81[ASN][1000 genomes]
rs2300881	0.82[ASN][1000 genomes]
rs34819784	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3770757	0.82[ASN][1000 genomes]
rs3770759	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4670194	0.83[ASN][1000 genomes]
rs4670195	0.88[ASN][1000 genomes]
rs4670688	0.83[ASN][1000 genomes]
rs4670689	0.82[ASN][1000 genomes]
rs56774710	0.87[ASN][1000 genomes]
rs57361399	0.81[ASN][1000 genomes]
rs6544066	0.83[ASN][1000 genomes]
rs67467920	0.86[ASN][1000 genomes]
rs71398224	0.81[ASN][1000 genomes]
rs74177070	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7563610	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7568510	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7570547	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7584565	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9309004	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2372993	CEBPZ	cis	Adipose Subcutaneous	GTEx
rs2372993	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL
rs2372993	CEBPZ	cis	Nerve Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37553800-37562200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:37558400-37562400	Weak transcription	Monocytes-CD14+_RO01746	blood

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