Variant report

Variant	rs12520030
Chromosome Location	chr5:95835789-95835790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10515239	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12519858	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12519926	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519944	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520472	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs155959	0.80[ASN][1000 genomes]
rs156004	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs156007	0.98[ASN][1000 genomes]
rs156008	0.99[ASN][1000 genomes]
rs156014	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17086176	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17086188	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17086192	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2350243	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs261969	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3844506	0.99[ASN][1000 genomes]
rs3866379	0.99[ASN][1000 genomes]
rs4869286	0.84[ASN][1000 genomes]
rs4869289	0.81[EUR][1000 genomes]
rs7729313	0.90[AMR][1000 genomes];0.94[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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1026484	chr5:95759910-95961518	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:95812600-95840400	Weak transcription	Aorta	Aorta
2	chr5:95834200-95836800	Enhancers	Hela-S3	cervix
3	chr5:95835600-95837600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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