Variant report

Variant	rs12118386
Chromosome Location	chr1:192627952-192627953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10754022	0.81[EUR][1000 genomes]
rs10754023	0.81[EUR][1000 genomes]
rs10801140	0.88[EUR][1000 genomes]
rs10921229	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10921234	0.88[EUR][1000 genomes]
rs10921238	0.87[EUR][1000 genomes]
rs12037932	0.86[EUR][1000 genomes]
rs12403636	0.86[EUR][1000 genomes]
rs1933705	0.87[EUR][1000 genomes]
rs1933706	0.87[EUR][1000 genomes]
rs1933709	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1933711	0.82[AMR][1000 genomes]
rs1933712	0.81[EUR][1000 genomes]
rs1933713	0.81[EUR][1000 genomes]
rs1933714	0.80[EUR][1000 genomes]
rs1933715	0.81[EUR][1000 genomes]
rs2104248	0.82[EUR][1000 genomes]
rs2146607	0.87[EUR][1000 genomes]
rs2181445	0.88[EUR][1000 genomes]
rs2208960	0.81[EUR][1000 genomes]
rs2296020	0.89[CEU][hapmap]
rs2296021	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4568808	0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4601565	0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap]
rs6695451	0.81[EUR][1000 genomes]
rs6699054	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6702192	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7540755	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7549322	0.81[EUR][1000 genomes]
rs9287126	0.93[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs961480	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12118386	RGS21	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192627400-192628600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:192627600-192628400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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