Variant report

Variant	rs10992267
Chromosome Location	chr9:94944025-94944026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94939916..94941677-chr9:94943459..94945410,2	K562	blood:
2	chr9:94942048..94944825-chr9:94955253..94957515,2	MCF-7	breast:
3	chr9:94874983..94876627-chr9:94942419..94945391,2	K562	blood:
4	chr9:94939871..94945930-chr9:94946587..94952427,7	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10081693	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10119535	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10123080	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10156530	0.91[ASN][1000 genomes]
rs10283718	1.00[ASN][1000 genomes]
rs10820954	1.00[ASN][1000 genomes]
rs10820956	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10820962	1.00[ASN][1000 genomes]
rs10820963	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10820970	1.00[ASN][1000 genomes]
rs10992265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10992266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992270	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992308	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10992312	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10992314	1.00[ASN][1000 genomes]
rs10992334	1.00[ASN][1000 genomes]
rs12345822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12349712	1.00[ASN][1000 genomes]
rs12352447	1.00[ASN][1000 genomes]
rs1447114	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3858097	0.94[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3889951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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]
rs7036078	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7860297	1.00[ASN][1000 genomes]
rs7863859	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7873882	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9695754	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	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
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv893572	chr9:94891778-94944778	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10992267	CENPP	cis	Muscle Skeletal	GTEx
rs10992267	CENPP	cis	Adipose Subcutaneous	GTEx
rs10992267	CENPP	cis	Nerve Tibial	GTEx
rs10992267	CENPP	cis	Esophagus Muscularis	GTEx
rs10992267	CENPP	cis	Artery Tibial	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94941400-94944200	Enhancers	HSMMtube	muscle
2	chr9:94942600-94944200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr9:94942800-94944200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:94943000-94944200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr9:94943800-94944200	ZNF genes & repeats	Gastric	stomach
6	chr9:94943800-94944400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:94943800-94947600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:94943800-94949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:94944000-94945000	Weak transcription	K562	blood

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