Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10138508	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11625785	0.84[ASN][1000 genomes]
rs11626976	0.89[ASN][1000 genomes]
rs12100805	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17108433	0.85[ASN][1000 genomes]
rs17108513	0.89[ASN][1000 genomes]
rs17605463	0.84[ASN][1000 genomes]
rs1885139	0.84[ASN][1000 genomes]
rs1951218	0.82[ASN][1000 genomes]
rs1957048	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093267	0.84[ASN][1000 genomes]
rs2104092	0.84[ASN][1000 genomes]
rs2145604	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2180879	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4899111	0.89[ASN][1000 genomes]
rs56143253	0.99[ASN][1000 genomes]
rs62001072	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs62001076	0.89[ASN][1000 genomes]
rs7142768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144708	0.82[ASN][1000 genomes]
rs7145908	0.99[ASN][1000 genomes]
rs7158719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160241	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs988420	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs990487	0.99[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2145605	C14orf147	cis	cerebellum	SCAN
rs2145605	BOLL	trans	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39347000-39351600	Enhancers	Brain Hippocampus Middle	brain
2	chr14:39349800-39351600	Enhancers	Adipose Nuclei	Adipose
3	chr14:39350600-39354600	Weak transcription	Brain Substantia Nigra	brain
4	chr14:39350600-39369600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:39350800-39351600	Weak transcription	Fetal Lung	lung
6	chr14:39350800-39351800	Weak transcription	Fetal Kidney	kidney
7	chr14:39351000-39352000	Weak transcription	HepG2	liver
8	chr14:39351400-39352200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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