Variant report

Variant	rs12518754
Chromosome Location	chr5:95620830-95620831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10043904	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10070093	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10476668	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521786	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs271913	0.96[ASN][1000 genomes]
rs271920	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs271922	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs271924	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs271925	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs271926	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs28788264	0.82[ASN][1000 genomes]
rs4077816	0.88[CHB][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap]
rs4264961	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4283814	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4379224	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs4502854	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635954	0.83[ASN][1000 genomes]
rs4869279	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6233	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs62364560	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62364561	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6556912	0.81[EUR][1000 genomes]
rs6876484	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881060	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881916	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885381	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893547	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6895341	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7447610	0.80[ASN][1000 genomes]
rs7448311	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733672	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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 miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12518754	CMAS	trans	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95612600-95632400	Weak transcription	Aorta	Aorta
2	chr5:95613000-95623800	Weak transcription	HSMM	muscle
3	chr5:95616400-95623000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:95617400-95625200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:95617400-95628600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:95617400-95637600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:95617800-95628400	Weak transcription	NHEK	skin
8	chr5:95619800-95621400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:95619800-95623800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:95620000-95621400	Enhancers	GM12878-XiMat	blood
11	chr5:95620400-95623600	Weak transcription	HMEC	breast
12	chr5:95620800-95623400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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