Variant report

Variant	rs689315
Chromosome Location	chr11:93974727-93974728
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1014499	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1014500	0.80[AFR][1000 genomes]
rs10458852	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10765657	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10765658	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10765660	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10831169	0.91[EUR][1000 genomes]
rs10831173	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10831174	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10831175	0.80[AMR][1000 genomes]
rs10831176	0.94[EUR][1000 genomes]
rs10831184	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11020678	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11020679	0.93[EUR][1000 genomes]
rs11020703	0.98[EUR][1000 genomes]
rs11020719	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12362988	0.80[AMR][1000 genomes]
rs12366039	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12792677	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12803129	0.84[EUR][1000 genomes]
rs12808853	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1361929	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1541301	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16920039	0.94[EUR][1000 genomes]
rs1789652	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1792632	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1833063	0.86[AMR][1000 genomes]
rs1857680	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1944436	0.95[EUR][1000 genomes]
rs2000956	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2156627	0.95[EUR][1000 genomes]
rs3020004	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3020016	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4597032	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4753131	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4753132	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4753548	0.82[AMR][1000 genomes]
rs4753569	0.82[AMR][1000 genomes]
rs480710	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526036	0.84[AMR][1000 genomes]
rs545450	0.83[AMR][1000 genomes]
rs561807	0.84[AMR][1000 genomes]
rs581771	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584109	0.82[AMR][1000 genomes]
rs603157	0.83[AMR][1000 genomes]
rs613234	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6483324	0.84[EUR][1000 genomes]
rs655358	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs656810	0.83[AMR][1000 genomes]
rs657242	0.83[AMR][1000 genomes]
rs657896	0.84[AMR][1000 genomes]
rs688910	0.83[AMR][1000 genomes]
rs7115129	0.83[EUR][1000 genomes]
rs7118270	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7130456	0.84[EUR][1000 genomes]
rs7927338	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7927496	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7936241	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7944234	0.85[EUR][1000 genomes]
rs871244	0.80[AMR][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	nsv1038294	chr11:93918837-93982605	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv523083	chr11:93962121-94150790	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs689315	RP11-680H20.2	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93974600-93975400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:93974600-93975400	Enhancers	Ovary	ovary
3	chr11:93974600-93975600	Enhancers	HSMMtube	muscle

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