Variant report

Variant	rs1951849
Chromosome Location	chr9:95199416-95199417
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	chr9:95193783..95195312-chr9:95198564..95201418,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10081693	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10115976	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10117603	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10119535	1.00[ASN][1000 genomes]
rs10123080	0.91[ASN][1000 genomes]
rs10156530	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10283718	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820954	1.00[ASN][1000 genomes]
rs10820956	1.00[ASN][1000 genomes]
rs10820962	1.00[ASN][1000 genomes]
rs10820963	1.00[ASN][1000 genomes]
rs10820970	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820973	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820978	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820982	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10820995	0.81[EUR][1000 genomes]
rs10992270	1.00[ASN][1000 genomes]
rs10992308	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992312	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992314	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992334	1.00[ASN][1000 genomes]
rs10992348	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992350	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992359	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12347857	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12349712	1.00[ASN][1000 genomes]
rs12350198	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12352447	1.00[ASN][1000 genomes]
rs12378023	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1447114	1.00[ASN][1000 genomes]
rs4744140	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56168105	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58391046	1.00[ASN][1000 genomes]
rs60993552	1.00[ASN][1000 genomes]
rs6479412	1.00[ASN][1000 genomes]
rs6479413	1.00[ASN][1000 genomes]
rs6479425	0.81[EUR][1000 genomes]
rs7027998	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7036078	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7036459	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7037068	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7860297	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7862677	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7872739	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7873882	1.00[ASN][1000 genomes]
rs7875681	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9695754	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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	nsv1049599	chr9:95170139-95265558	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1951849	CENPP	cis	Heart Left Ventricle	GTEx
rs1951849	CENPP	cis	Adipose Subcutaneous	GTEx
rs1951849	CENPP	cis	Nerve Tibial	GTEx
rs1951849	CENPP	cis	lung	GTEx
rs1951849	CENPP	cis	Muscle Skeletal	GTEx
rs1951849	CENPP	cis	Artery Tibial	GTEx
rs1951849	CENPP	cis	Thyroid	GTEx
rs1951849	CENPP	cis	Artery Aorta	GTEx
rs1951849	CENPP	cis	Esophagus Muscularis	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95186200-95202200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:95196400-95201200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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