Variant report

Variant	rs56231378
Chromosome Location	chr14:39392353-39392354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11622034	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11622736	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11622795	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11625924	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11626118	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11627346	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12433553	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12435055	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17108549	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17108591	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17108710	0.82[AMR][1000 genomes]
rs17108729	0.81[AMR][1000 genomes]
rs17108735	0.82[AMR][1000 genomes]
rs2415523	0.82[AMR][1000 genomes]
rs58589656	0.82[AMR][1000 genomes]
rs58904099	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59717515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62001097	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62001098	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62001099	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72645014	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72645015	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74050459	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8005437	0.82[AMR][1000 genomes]
rs8005797	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8007642	0.82[AMR][1000 genomes]
rs927296	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs983694	0.82[AMR][1000 genomes];0.89[ASN][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	nsv564416	chr14:39140536-39440106	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv470631	chr14:39153764-39440106	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv932194	chr14:39173578-39411337	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv901656	chr14:39370726-39423339	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 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	chr14:39389200-39398400	Weak transcription	Brain Substantia Nigra	brain

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