Variant report

Variant	rs4712116
Chromosome Location	chr6:56068918-56068919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10081146	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1022539	0.89[AFR][1000 genomes]
rs11970688	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12190324	0.81[AFR][1000 genomes]
rs13193925	0.87[AFR][1000 genomes]
rs13209836	0.90[AFR][1000 genomes]
rs1320996	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1474698	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1925139	0.88[AFR][1000 genomes]
rs1925144	0.81[AFR][1000 genomes]
rs1925145	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1925148	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1925152	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1925153	0.85[AFR][1000 genomes]
rs1925174	0.82[AFR][1000 genomes]
rs1925175	0.82[AFR][1000 genomes]
rs1925185	0.82[AFR][1000 genomes]
rs1980487	0.88[AFR][1000 genomes]
rs1998700	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2038149	0.90[AFR][1000 genomes]
rs2038150	0.90[AFR][1000 genomes]
rs2223598	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3846922	0.81[AFR][1000 genomes]
rs3846924	0.81[AFR][1000 genomes]
rs3846925	0.82[AFR][1000 genomes]
rs3846926	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3899394	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4119567	0.90[AFR][1000 genomes]
rs4126555	0.81[AFR][1000 genomes]
rs4126556	0.81[AFR][1000 genomes]
rs4126557	0.81[AFR][1000 genomes]
rs4126558	0.81[AFR][1000 genomes]
rs4140573	0.90[AFR][1000 genomes]
rs4140574	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4140575	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4310058	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4490668	0.90[AFR][1000 genomes]
rs4607420	0.81[AFR][1000 genomes]
rs4712120	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4715583	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4715584	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4715589	0.90[AFR][1000 genomes]
rs4715590	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4715594	0.88[AMR][1000 genomes]
rs4715596	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6459130	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6459134	0.91[AFR][1000 genomes]
rs6904431	0.81[AFR][1000 genomes]
rs6920461	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6922057	0.82[AFR][1000 genomes]
rs6930358	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6935200	0.83[AFR][1000 genomes]
rs6936386	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs761104	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs761105	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs764517	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7741903	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7762422	0.82[AFR][1000 genomes]
rs7776118	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs926534	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs926535	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9296832	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9296833	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9349804	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9357892	0.84[AFR][1000 genomes]
rs9357893	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9357897	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9367678	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9382584	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9382595	0.80[AFR][1000 genomes]
rs9396175	0.81[ASN][1000 genomes]
rs9396181	0.83[AFR][1000 genomes]
rs9396183	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9475583	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9475586	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9475641	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][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	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv885911	chr6:55789704-56143231	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56064000-56090800	Weak transcription	Fetal Lung	lung
2	chr6:56065200-56069000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:56067400-56069200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:56068600-56069600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:56068800-56069000	Weak transcription	Fetal Muscle Trunk	muscle

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