Variant report

Variant	rs724569
Chromosome Location	chr11:101753183-101753184
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10459002	0.84[ASN][1000 genomes]
rs11225045	0.92[ASN][1000 genomes]
rs11225046	0.92[ASN][1000 genomes]
rs11602758	0.92[ASN][1000 genomes]
rs12364967	0.89[ASN][1000 genomes]
rs12577363	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1441931	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1893921	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1939458	0.82[CHB][hapmap];0.80[CHD][hapmap];0.93[JPT][hapmap]
rs1946960	0.92[ASN][1000 genomes]
rs1954765	0.83[ASN][1000 genomes]
rs2119735	0.92[ASN][1000 genomes]
rs2165588	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2165589	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2897863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897865	0.92[ASN][1000 genomes]
rs4429028	0.86[ASN][1000 genomes]
rs4492786	0.89[ASN][1000 genomes]
rs4539294	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4754030	0.88[ASN][1000 genomes]
rs4754813	0.89[ASN][1000 genomes]
rs61915969	0.82[ASN][1000 genomes]
rs61915970	0.82[ASN][1000 genomes]
rs7123936	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7926957	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7931237	0.83[ASN][1000 genomes]
rs7944493	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7949648	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052159	chr11:101439655-101853293	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1051457	chr11:101446705-101837650	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv530645	chr11:101451416-101778666	Bivalent/Poised TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv832250	chr11:101617934-101804020	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs724569	BIRC2	cis	parietal	SCAN
rs724569	PIGO	trans	cerebellum	SCAN
rs724569	FGFR1OP	trans	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101750200-101778200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:101753000-101756400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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