Variant report

Variant	rs348679
Chromosome Location	chr12:62435521-62435522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1146077	0.91[JPT][hapmap]
rs1146079	0.81[JPT][hapmap]
rs1146081	0.91[JPT][hapmap]
rs191551	0.90[JPT][hapmap]
rs348635	0.90[JPT][hapmap]
rs348636	0.81[JPT][hapmap]
rs348638	0.81[JPT][hapmap]
rs348652	0.81[JPT][hapmap]
rs348654	0.81[JPT][hapmap]
rs348655	0.81[JPT][hapmap]
rs348660	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs348661	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs348662	0.90[JPT][hapmap]
rs348663	0.90[JPT][hapmap]
rs348672	0.81[JPT][hapmap]
rs348676	0.81[JPT][hapmap]
rs348686	0.81[JPT][hapmap]
rs348687	0.81[JPT][hapmap]

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	nsv1039741	chr12:62046850-62491052	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832435	chr12:62407000-62601835	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs348679	CCDC19	trans	parietal	SCAN

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

No data

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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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