Variant report

Variant	rs12756435
Chromosome Location	chr1:192865037-192865038
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1231730	0.87[AMR][1000 genomes]
rs1231731	0.87[AMR][1000 genomes]
rs1231732	0.87[AMR][1000 genomes]
rs1231733	0.87[AMR][1000 genomes]
rs1231734	0.87[AMR][1000 genomes]
rs1231736	0.87[AMR][1000 genomes]
rs1231750	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1231757	0.83[AMR][1000 genomes]
rs1231758	0.83[AMR][1000 genomes]
rs1231763	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1231764	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1231765	0.89[AMR][1000 genomes]
rs1234722	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12733094	0.84[AMR][1000 genomes]
rs12756049	0.89[AMR][1000 genomes]
rs12756953	0.84[AMR][1000 genomes]
rs12757265	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12758285	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12758449	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1535034	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1620819	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1623376	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17524307	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17524545	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17590238	0.84[AMR][1000 genomes]
rs1890973	0.84[AMR][1000 genomes]
rs2473740	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2487288	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2797395	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34120198	0.84[AMR][1000 genomes]
rs34424396	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34562719	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34732347	0.84[AMR][1000 genomes]
rs34838432	0.84[AMR][1000 genomes]
rs34867585	0.84[AMR][1000 genomes]
rs35040499	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35471066	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35845034	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35879519	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35997646	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4098556	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4451535	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4658075	0.84[AMR][1000 genomes]
rs58739396	0.84[AMR][1000 genomes]
rs60382150	0.84[AMR][1000 genomes]
rs60756700	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6686024	0.84[AMR][1000 genomes]
rs6692203	0.84[AMR][1000 genomes]
rs949982	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][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	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
3	esv1679965	chr1:192865010-192865051	Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192862800-192870800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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