Variant report

Variant	rs12115114
Chromosome Location	chr8:64389880-64389881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1019879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10504364	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1115753	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775359	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11775983	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255857	0.91[EUR][1000 genomes]
rs13280126	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13280174	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13280950	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1367806	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs1367807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1431585	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1897311	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1897312	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2099257	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116336	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116337	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116338	0.89[EUR][1000 genomes]
rs2195757	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2354895	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739097	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472109	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980849	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012613	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817045	0.91[EUR][1000 genomes]
rs7823637	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7829623	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831118	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7836363	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs919620	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12115114	CSPP1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64382800-64391400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:64388600-64390000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr8:64388600-64390600	Enhancers	Skeletal Muscle Male	skeletal muscle

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