Variant report

Variant	rs520809
Chromosome Location	chr12:119931099-119931100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12297453	0.87[CHB][hapmap]
rs2519543	1.00[CHB][hapmap];0.82[GIH][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs2727741	0.93[CHB][hapmap];0.82[GIH][hapmap]
rs477467	1.00[CHB][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap]
rs482802	0.83[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs487818	1.00[CHB][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap]
rs504481	0.92[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs511742	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs518202	1.00[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs529501	1.00[CHB][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.81[ASN][1000 genomes]
rs549919	0.82[ASN][1000 genomes]
rs560785	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs7968484	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs520809	FBXW8	cis	parietal	SCAN
rs520809	NME2P1	cis	parietal	SCAN
rs520809	UNC119B	cis	parietal	SCAN

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

No data

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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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