Variant report

Variant	rs1033289
Chromosome Location	chr2:86611284-86611285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10169091	0.81[CEU][hapmap]
rs10185085	1.00[CHB][hapmap]
rs10208989	0.89[EUR][1000 genomes]
rs1033288	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036940	1.00[CHB][hapmap]
rs10865481	0.96[CEU][hapmap]
rs11127040	1.00[CHB][hapmap]
rs11127042	1.00[CHB][hapmap]
rs11687162	0.96[MEX][hapmap]
rs11693352	1.00[CHB][hapmap]
rs11903855	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[ASN][1000 genomes]
rs12617075	0.89[CEU][hapmap]
rs12714182	0.96[MEX][hapmap]
rs12714183	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12714185	1.00[CHB][hapmap]
rs12714187	1.00[CHB][hapmap]
rs12995117	1.00[CHB][hapmap]
rs13420491	0.86[EUR][1000 genomes]
rs1468039	1.00[CHB][hapmap]
rs1518811	1.00[CHB][hapmap]
rs1964087	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1964088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1964089	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2030259	1.00[CHB][hapmap]
rs2044230	1.00[CHB][hapmap]
rs2113608	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2113609	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3952742	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4832281	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4832282	0.89[CEU][hapmap]
rs4832283	1.00[ASN][1000 genomes]
rs4832285	1.00[CHB][hapmap]
rs4832289	1.00[CHB][hapmap]
rs4832294	1.00[CHB][hapmap]
rs6547677	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6547680	1.00[ASN][1000 genomes]
rs6708398	1.00[ASN][1000 genomes]
rs6710124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6713586	0.89[ASN][1000 genomes]
rs6714826	1.00[CHB][hapmap]
rs6716701	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6718850	0.91[MEX][hapmap]
rs6720331	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756146	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7573005	1.00[ASN][1000 genomes]
rs7574389	1.00[CHB][hapmap]
rs908789	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950780	1.00[CHB][hapmap]
rs966477	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1033289	RMND5A	cis	cerebellum	SCAN
rs1033289	PTCD3	cis	cerebellum	SCAN
rs1033289	RNF103	cis	cerebellum	SCAN
rs1033289	VPS24	cis	lymphoblastoid	seeQTL
rs1033289	VPS24	Cis_1M	lymphoblastoid	RTeQTL
rs1033289	MRPL35	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86609000-86615200	Enhancers	Fetal Lung	lung
2	chr2:86610400-86611600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:86610600-86611600	Enhancers	NH-A	brain
4	chr2:86610800-86611400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:86610800-86611600	Enhancers	Osteobl	bone
6	chr2:86611000-86611400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:86611200-86611400	Enhancers	Left Ventricle	heart
8	chr2:86611200-86611600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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