Variant report

Variant	rs10992359
Chromosome Location	chr9:95288017-95288018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95281336..95283351-chr9:95285922..95288422,3	K562	blood:
2	chr9:95279396..95281425-chr9:95286686..95288458,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10115976	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10117603	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10283718	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10820970	0.84[EUR][1000 genomes]
rs10820973	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10820978	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10820982	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10820995	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10992308	0.84[EUR][1000 genomes]
rs10992312	0.84[EUR][1000 genomes]
rs10992348	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10992350	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12347857	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12350198	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12378023	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1951849	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4744140	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56168105	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6479425	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7027998	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7036078	0.84[EUR][1000 genomes]
rs7036459	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7037068	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7860297	0.84[EUR][1000 genomes]
rs7862677	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7872739	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7875681	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9695754	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv1822933	chr9:95255176-95293308	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10992359	CENPP	cis	Adipose Subcutaneous	GTEx
rs10992359	CENPP	cis	Artery Tibial	GTEx
rs10992359	CENPP	cis	Esophagus Muscularis	GTEx
rs10992359	CENPP	cis	Nerve Tibial	GTEx
rs10992359	CENPP	cis	Muscle Skeletal	GTEx
rs10992359	CENPP	cis	Artery Aorta	GTEx
rs10992359	CENPP	cis	Thyroid	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95269800-95298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:95276000-95296600	Weak transcription	Colon Smooth Muscle	Colon
3	chr9:95279600-95290400	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:95280800-95290400	Weak transcription	Aorta	Aorta
5	chr9:95280800-95296400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:95281400-95295800	Weak transcription	Liver	Liver
7	chr9:95281800-95290400	Weak transcription	Adipose Nuclei	Adipose
8	chr9:95284000-95296400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:95286000-95290400	Weak transcription	Left Ventricle	heart
10	chr9:95287000-95296600	Weak transcription	Ovary	ovary
11	chr9:95287200-95293000	Weak transcription	Fetal Lung	lung
12	chr9:95287400-95292400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:95288000-95288400	Enhancers	K562	blood

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