Variant report

Variant	rs31423
Chromosome Location	chr14:79429139-79429140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11851757	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17108429	0.85[EUR][1000 genomes]
rs2270963	0.85[EUR][1000 genomes]
rs31414	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs31415	0.87[EUR][1000 genomes]
rs31416	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs31417	0.87[EUR][1000 genomes]
rs31419	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs31420	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs31421	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs31422	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs31438	0.88[ASN][1000 genomes]
rs3805719	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61995264	0.84[ASN][1000 genomes]
rs61995265	0.87[EUR][1000 genomes]
rs61995266	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995269	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6574477	0.89[ASN][1000 genomes]
rs730024	0.85[EUR][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	nsv832838	chr14:79306627-79445382	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79416800-79436000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:79426600-79435800	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:79426600-79437200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:79426600-79437400	Weak transcription	Brain Angular Gyrus	brain
5	chr14:79428200-79430600	Weak transcription	HUVEC	blood vessel
6	chr14:79428800-79433200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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