Variant report

Variant	rs12439453
Chromosome Location	chr1:79624312-79624313
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11071248	0.83[AFR][1000 genomes]
rs11071251	0.83[AFR][1000 genomes]
rs12438014	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438053	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438262	0.83[AFR][1000 genomes]
rs12438534	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438606	0.83[AFR][1000 genomes]
rs12438630	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438670	0.83[AFR][1000 genomes]
rs12438717	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438761	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438788	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439039	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439083	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439088	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439245	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439673	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439999	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440577	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440764	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440913	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441000	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441143	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441149	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441182	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441202	0.86[AMR][1000 genomes]
rs12441309	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441438	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441707	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441874	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442236	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442599	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442602	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442951	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443053	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443139	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443204	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443402	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443459	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911002	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976721	0.83[AFR][1000 genomes]
rs16976737	0.83[AFR][1000 genomes]
rs17238663	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17238684	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17238740	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819426	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819450	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819473	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819485	1.00[ASN][1000 genomes]
rs28895323	0.83[AFR][1000 genomes]
rs3858883	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4310793	0.83[AFR][1000 genomes]
rs7180561	1.00[ASN][1000 genomes]
rs7181011	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830326	chr1:79573379-79735667	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv871182	chr1:79614989-79822735	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79621800-79626800	Weak transcription	Fetal Heart	heart

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