Variant report

Variant	rs2188940
Chromosome Location	chr12:47849454-47849455
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10492008	0.81[ASN][1000 genomes]
rs1073864	0.81[ASN][1000 genomes]
rs10881113	0.82[ASN][1000 genomes]
rs10881114	0.82[ASN][1000 genomes]
rs10881115	0.81[ASN][1000 genomes]
rs11183962	0.81[ASN][1000 genomes]
rs11183963	0.81[ASN][1000 genomes]
rs11832323	0.83[AMR][1000 genomes]
rs12305366	0.81[ASN][1000 genomes]
rs12306846	0.81[ASN][1000 genomes]
rs12309391	0.81[ASN][1000 genomes]
rs12310759	0.81[ASN][1000 genomes]
rs12423892	0.81[ASN][1000 genomes]
rs12818961	0.81[ASN][1000 genomes]
rs1919729	0.88[ASN][1000 genomes]
rs2097726	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2106837	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2188943	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2285670	0.81[ASN][1000 genomes]
rs2408794	0.81[ASN][1000 genomes]
rs2408795	0.81[ASN][1000 genomes]
rs4277196	0.81[ASN][1000 genomes]
rs4372536	0.81[ASN][1000 genomes]
rs4436625	0.81[ASN][1000 genomes]
rs4567552	0.81[ASN][1000 genomes]
rs6582709	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6582710	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71459084	0.81[ASN][1000 genomes]
rs721370	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs721371	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs721372	0.81[ASN][1000 genomes]
rs7312534	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7957588	0.84[ASN][1000 genomes]
rs7957847	0.81[ASN][1000 genomes]
rs7959078	0.81[ASN][1000 genomes]
rs7969870	0.81[ASN][1000 genomes]
rs7973070	0.82[ASN][1000 genomes]
rs7975878	0.81[ASN][1000 genomes]
rs7975982	0.81[ASN][1000 genomes]
rs7979332	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7979578	0.81[ASN][1000 genomes]

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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv832400	chr12:47840248-48024605	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv522914	chr12:47846960-47867510	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47842800-47851800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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