Variant report

Variant	rs847360
Chromosome Location	chr14:72772051-72772052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1996661	0.84[CHD][hapmap]
rs2222311	0.80[CHD][hapmap]
rs2238204	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs2238206	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs2238207	0.88[CHB][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap]
rs4899430	0.88[CHB][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap]
rs6574061	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs699366	0.88[CEU][hapmap]
rs7151952	0.88[CHB][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap]
rs7156910	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs847311	1.00[ASW][hapmap]
rs847346	0.88[CEU][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847362	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847364	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs847360	COX16	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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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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