Variant report

Variant	rs72780143
Chromosome Location	chr5:106464399-106464400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10900899	1.00[ASN][1000 genomes]
rs11242630	1.00[ASN][1000 genomes]
rs11959317	1.00[ASN][1000 genomes]
rs12188989	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1422202	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17159492	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159517	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4512123	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56205882	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56307182	1.00[ASN][1000 genomes]
rs56379720	1.00[ASN][1000 genomes]
rs6884722	1.00[ASN][1000 genomes]
rs72780137	0.87[EUR][1000 genomes]
rs72780138	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72780142	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72780145	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72780149	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72780150	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72780159	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72780162	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72780184	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72782143	1.00[ASN][1000 genomes]
rs7720389	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv599332	chr5:106403516-106502006	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2752056	chr5:106422649-106563101	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr5:106463600-106464600	Enhancers	Fetal Heart	heart
2	chr5:106463800-106465800	Enhancers	Fetal Lung	lung
3	chr5:106464000-106464800	Weak transcription	Muscle Satellite Cultured Cells	--

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