Variant report

Variant	rs10145817
Chromosome Location	chr14:79142415-79142416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10138169	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11625950	0.85[TSI][hapmap]
rs17108041	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs2194530	0.83[MEX][hapmap]
rs6574458	0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs6574460	0.91[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.80[MEX][hapmap]
rs7158202	0.82[CEU][hapmap]
rs8009691	0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs8015473	0.95[CHB][hapmap];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	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10145817	GTF2A1	cis	parietal	SCAN
rs10145817	TGFB3	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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