Variant report

Variant	rs12188989
Chromosome Location	chr5:106463278-106463279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10900899	0.86[ASN][1000 genomes]
rs11242630	0.86[ASN][1000 genomes]
rs11959317	0.86[ASN][1000 genomes]
rs1422202	0.80[AMR][1000 genomes]
rs17159492	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17159517	0.81[EUR][1000 genomes]
rs4512123	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56205882	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56307182	0.86[ASN][1000 genomes]
rs56379720	0.86[ASN][1000 genomes]
rs6884722	0.86[ASN][1000 genomes]
rs72780138	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72780142	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72780143	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72780145	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72780149	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72780150	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72780159	0.81[EUR][1000 genomes]
rs72780162	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72782143	0.86[ASN][1000 genomes]
rs7720389	0.86[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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106458200-106463600	Weak transcription	Fetal Heart	heart
2	chr5:106463200-106464000	Enhancers	Muscle Satellite Cultured Cells	--

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