Variant report

Variant	rs12478020
Chromosome Location	chr2:115477067-115477068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1002872	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203323	1.00[ASN][1000 genomes]
rs10211528	1.00[ASN][1000 genomes]
rs12463387	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12463533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12479364	0.95[EUR][1000 genomes]
rs12711803	1.00[ASN][1000 genomes]
rs13010772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13017277	1.00[ASN][1000 genomes]
rs13022000	1.00[ASN][1000 genomes]
rs13032093	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13386918	1.00[ASN][1000 genomes]
rs13425488	1.00[ASN][1000 genomes]
rs13430153	1.00[ASN][1000 genomes]
rs17043351	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17043357	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17043364	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17729212	1.00[ASN][1000 genomes]
rs17729314	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730230	1.00[ASN][1000 genomes]
rs17786067	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35456562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4569486	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71418511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71418512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71418517	1.00[ASN][1000 genomes]
rs72955668	1.00[ASN][1000 genomes]
rs7605779	1.00[ASN][1000 genomes]
rs930314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs967034	1.00[EUR][1000 genomes];1.00[ASN][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	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv431502	chr2:115139566-115617936	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv834338	chr2:115320185-115481229	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv431524	chr2:115425650-115530770	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115473000-115484600	Weak transcription	Brain Angular Gyrus	brain

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