Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10158230	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11206668	0.83[EUR][1000 genomes]
rs11206669	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11206670	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11206671	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12058859	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12132347	0.85[AMR][1000 genomes]
rs12727910	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12728204	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3924189	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3934487	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3935996	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4309021	0.84[EUR][1000 genomes]
rs4540693	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4589149	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4926698	0.84[EUR][1000 genomes]
rs6663328	0.84[EUR][1000 genomes]
rs7539074	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7546553	0.83[EUR][1000 genomes]
rs7549389	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9633424	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	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	nsv1002958	chr1:56278696-56295112	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12411257	HSPB11	cis	parietal	SCAN
rs12411257	TMEM59	cis	cerebellum	SCAN
rs12411257	MAGOH	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56280000-56288600	Weak transcription	NHLF	lung
2	chr1:56280400-56291000	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:56281600-56283400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:56282200-56283400	Enhancers	Placenta	Placenta
5	chr1:56282400-56287200	Weak transcription	Adipose Nuclei	Adipose
6	chr1:56282800-56287800	Weak transcription	Fetal Intestine Large	intestine
7	chr1:56283000-56286800	Weak transcription	Fetal Kidney	kidney
8	chr1:56283000-56286800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:56283000-56293000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:56283200-56283400	Bivalent Enhancer	Dnd41	blood
11	chr1:56283200-56292400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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