Variant report

Variant	rs6446284
Chromosome Location	chr3:49616997-49616998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10452032	0.80[AMR][1000 genomes]
rs1078341	0.80[AMR][1000 genomes]
rs10865956	0.83[AFR][1000 genomes]
rs11130207	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11130208	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130211	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11721148	0.84[AMR][1000 genomes]
rs12583	0.83[AFR][1000 genomes]
rs12637313	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13096480	0.84[AMR][1000 genomes]
rs1352889	0.84[AMR][1000 genomes]
rs1463728	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1491983	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1532204	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1586827	0.84[AMR][1000 genomes]
rs1982861	0.83[AFR][1000 genomes]
rs2029591	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2131108	0.84[AMR][1000 genomes]
rs2312462	0.87[AFR][1000 genomes]
rs2329021	0.80[AMR][1000 genomes]
rs4241405	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4241407	0.87[AFR][1000 genomes]
rs4855833	0.84[AMR][1000 genomes]
rs4855845	0.80[AMR][1000 genomes]
rs4855846	0.80[AMR][1000 genomes]
rs4855848	0.86[AMR][1000 genomes]
rs4855849	0.84[AMR][1000 genomes]
rs4855853	0.83[AFR][1000 genomes]
rs6446285	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6774202	0.80[AMR][1000 genomes]
rs6797299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355800	0.80[AFR][1000 genomes]
rs7644148	0.80[AFR][1000 genomes]
rs9830730	0.80[AMR][1000 genomes]
rs9883000	0.84[AMR][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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv508217	chr3:49615446-49769896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6446284	RNF123	cis	Artery Tibial	GTEx
rs6446284	AMT	cis	lung	GTEx
rs6446284	WDR6	cis	Muscle Skeletal	GTEx
rs6446284	AMT	cis	Nerve Tibial	GTEx
rs6446284	AMT	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49613800-49617800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:49615800-49619400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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