Variant report

Variant	rs9940390
Chromosome Location	chr16:80051931-80051932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11645922	0.83[EUR][1000 genomes]
rs12716881	0.85[EUR][1000 genomes]
rs12921255	0.83[EUR][1000 genomes]
rs13333795	0.82[EUR][1000 genomes]
rs4363873	0.85[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4365299	0.87[CEU][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs4402582	0.83[EUR][1000 genomes]
rs4407073	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4500741	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs4545830	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4889067	0.87[CEU][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs4889068	0.87[CEU][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs6564728	0.89[TSI][hapmap]
rs7184607	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7192753	0.89[TSI][hapmap]
rs7193465	0.80[CHD][hapmap];0.82[ASN][1000 genomes]
rs8050142	0.89[TSI][hapmap]
rs9937844	0.87[CEU][hapmap];0.94[TSI][hapmap];0.84[EUR][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9940390	RFWD3	cis	parietal	SCAN
rs9940390	MATR3	trans	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80040400-80057200	Weak transcription	Esophagus	oesophagus
2	chr16:80049800-80057200	Weak transcription	HSMMtube	muscle
3	chr16:80051800-80053600	Enhancers	Fetal Stomach	stomach

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Input of quick search could be:

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

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