Variant report

Variant	rs12171061
Chromosome Location	chr22:30461742-30461743
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10048885	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11090598	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12167333	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12168499	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12171250	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12171263	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17643918	0.81[EUR][1000 genomes]
rs17648725	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1807509	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs193473	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs193481	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1978083	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2017677	0.89[EUR][1000 genomes]
rs2051764	0.89[EUR][1000 genomes]
rs2412960	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2412963	0.88[EUR][1000 genomes]
rs28257	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34862234	0.81[EUR][1000 genomes]
rs36580	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36590	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36591	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36594	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36596	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36598	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36600	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36601	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36604	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36605	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36606	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36607	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3788423	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3887275	0.81[EUR][1000 genomes]
rs39712	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41162	0.85[EUR][1000 genomes]
rs41164	0.88[EUR][1000 genomes]
rs41166	0.88[EUR][1000 genomes]
rs41175	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41179	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4239932	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4239933	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4337577	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4823063	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4823070	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5752986	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5752988	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5752993	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763630	0.85[EUR][1000 genomes]
rs5763634	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5763644	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763674	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5763675	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763680	0.89[EUR][1000 genomes]
rs5763689	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs715523	0.88[EUR][1000 genomes]
rs718772	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7286070	0.81[EUR][1000 genomes]
rs7292615	0.81[EUR][1000 genomes]
rs737904	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs737909	0.89[EUR][1000 genomes]
rs737912	0.84[EUR][1000 genomes]
rs7510705	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8135823	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8136147	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8138286	0.86[EUR][1000 genomes]
rs8139994	0.80[EUR][1000 genomes]
rs8141404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8141765	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9620926	0.81[EUR][1000 genomes]
rs9620943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620953	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625873	0.82[EUR][1000 genomes]
rs9625874	0.82[EUR][1000 genomes]
rs9625879	0.81[EUR][1000 genomes]
rs9625919	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625926	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625931	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625933	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625935	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv819812	chr22:30453933-30470372	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
4	nsv829168	chr22:30456513-30470312	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
5	esv3456660	chr22:30457252-30463950	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
6	esv3456661	chr22:30457252-30463950	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30461600-30474600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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