Variant report

Variant	rs387419
Chromosome Location	chr14:56534079-56534080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10131576	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12880990	0.88[ASN][1000 genomes]
rs3186565	0.88[MEX][hapmap]
rs374338	0.81[JPT][hapmap]
rs377072	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs377471	0.91[JPT][hapmap]
rs3850295	0.88[MEX][hapmap]
rs409492	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs430315	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8004543	0.88[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs387419	C14orf37	cis	cerebellum	SCAN
rs387419	C14orf166	cis	cerebellum	SCAN
rs387419	PELI2	cis	parietal	SCAN
rs387419	ERO1L	cis	parietal	SCAN
rs387419	FBXO34	cis	cerebellum	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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