Variant report

Variant	rs2086133
Chromosome Location	chr5:43266528-43266529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10039048	0.82[EUR][1000 genomes]
rs10039617	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10462047	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10462048	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10512825	0.81[EUR][1000 genomes]
rs10805671	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10805672	0.81[EUR][1000 genomes]
rs10941620	0.90[EUR][1000 genomes]
rs10941621	0.81[EUR][1000 genomes]
rs10941622	0.81[EUR][1000 genomes]
rs10941623	0.81[EUR][1000 genomes]
rs11739665	0.81[EUR][1000 genomes]
rs11740128	0.89[EUR][1000 genomes]
rs11746629	0.89[EUR][1000 genomes]
rs12515072	0.81[EUR][1000 genomes]
rs12518032	0.81[EUR][1000 genomes]
rs12519554	0.90[EUR][1000 genomes]
rs12520012	0.81[EUR][1000 genomes]
rs13659	0.82[EUR][1000 genomes]
rs1545753	0.82[EUR][1000 genomes]
rs1548097	0.81[EUR][1000 genomes]
rs35231094	0.90[EUR][1000 genomes]
rs35239179	0.81[EUR][1000 genomes]
rs3733768	0.84[EUR][1000 genomes]
rs3733769	0.81[EUR][1000 genomes]
rs4254917	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4373285	0.81[EUR][1000 genomes]
rs4395639	0.86[EUR][1000 genomes]
rs4443426	0.89[EUR][1000 genomes]
rs4866734	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4866813	0.81[EUR][1000 genomes]
rs55647314	0.84[EUR][1000 genomes]
rs55794239	0.82[EUR][1000 genomes]
rs55800451	0.85[EUR][1000 genomes]
rs56023994	0.84[EUR][1000 genomes]
rs56029402	0.86[EUR][1000 genomes]
rs56114604	0.81[EUR][1000 genomes]
rs57392430	0.86[EUR][1000 genomes]
rs60207549	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6451684	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs66585077	0.90[EUR][1000 genomes]
rs66691321	0.81[EUR][1000 genomes]
rs67415672	0.85[EUR][1000 genomes]
rs6814	0.82[EUR][1000 genomes]
rs6863360	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6895805	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6898398	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7701391	0.84[EUR][1000 genomes]
rs7714919	0.84[EUR][1000 genomes]
rs7720165	0.81[EUR][1000 genomes]
rs7734293	0.90[EUR][1000 genomes]
rs9292871	0.84[EUR][1000 genomes]
rs9790987	0.81[EUR][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	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
4	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
5	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2086133	NNT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43246600-43281400	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:43257400-43274400	Weak transcription	Brain Anterior Caudate	brain
3	chr5:43266400-43266800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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