Variant report

Variant	rs72953143
Chromosome Location	chr3:51227438-51227439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12485331	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12485754	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12487496	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12489219	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12490026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12491836	1.00[EUR][1000 genomes]
rs12492615	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12492690	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12493034	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12493323	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12493359	0.89[EUR][1000 genomes]
rs12495561	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12496830	0.89[EUR][1000 genomes]
rs1809388	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2086395	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2127654	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2170177	0.84[EUR][1000 genomes]
rs2355946	0.84[EUR][1000 genomes]
rs3762711	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4130473	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4323036	0.89[EUR][1000 genomes]
rs4346580	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4927961	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4974100	0.89[EUR][1000 genomes]
rs4974112	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56052360	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57406588	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58720544	0.89[EUR][1000 genomes]
rs58911602	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59682667	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59834534	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59957657	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60128296	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60461297	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60567238	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60740654	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60882641	0.89[EUR][1000 genomes]
rs61660900	0.84[AMR][1000 genomes]
rs6792254	0.89[EUR][1000 genomes]
rs72936442	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72936462	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72941919	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72943130	0.89[EUR][1000 genomes]
rs72943137	0.89[EUR][1000 genomes]
rs72943166	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948197	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72948200	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72953162	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72953175	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7372342	0.89[EUR][1000 genomes]
rs9878592	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51213000-51246000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:51223400-51228800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:51227200-51250600	Weak transcription	Brain Hippocampus Middle	brain

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