Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11206636	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs11206637	0.88[ASN][1000 genomes]
rs11206638	0.91[ASN][1000 genomes]
rs12040862	0.81[JPT][hapmap]
rs12041985	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12132336	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12139752	0.88[ASN][1000 genomes]
rs1392130	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs1587432	0.88[ASN][1000 genomes]
rs1604016	0.91[ASN][1000 genomes]
rs17417716	1.00[ASN][1000 genomes]
rs56169646	0.99[ASN][1000 genomes]
rs61776375	0.98[ASN][1000 genomes]
rs61776377	1.00[ASN][1000 genomes]
rs7513395	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs7544458	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs7546899	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs7555929	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs7556008	0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs769971	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs769984	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9662650	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

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	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1014866	chr1:56059054-56129092	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs709397	PRKAA2	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56089000-56090400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56089000-56104000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:56089400-56091800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:56089400-56092400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:56089600-56090600	Enhancers	Fetal Lung	lung
6	chr1:56089600-56091600	Weak transcription	Fetal Kidney	kidney
7	chr1:56089800-56090400	Enhancers	Fetal Stomach	stomach
8	chr1:56090200-56090400	Enhancers	Ovary	ovary
9	chr1:56090200-56091200	Enhancers	Muscle Satellite Cultured Cells	--

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