Variant report

Variant	rs10992511
Chromosome Location	chr9:95652924-95652925
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10992514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992526	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10992528	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10992556	1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap]
rs10992580	1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap]
rs12380291	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs1323276	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs41301515	0.88[AFR][1000 genomes]
rs4595187	0.90[EUR][1000 genomes]
rs62572365	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62572366	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62572367	0.90[EUR][1000 genomes]
rs62572368	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62572369	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62572372	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62572374	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62572381	0.92[EUR][1000 genomes]
rs62572384	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62572386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62572406	0.92[AFR][1000 genomes]
rs62572407	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs62572408	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs62574701	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72741010	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72741018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv831654	chr9:95542920-95720961	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv893574	chr9:95580376-95688099	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv972781	chr9:95639258-95671744	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
4	nsv973756	chr9:95650489-95656277	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10992511	IPPK	cis	parietal	SCAN
rs10992511	CENPP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95651000-95653000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:95652600-95653400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:95652600-95654400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:95652600-95654400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:95652800-95653800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr9:95652800-95653800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:95652800-95654000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:95652800-95654400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr9:95652800-95654600	Enhancers	H1 Cell Line	embryonic stem cell

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