Variant report

Variant	rs12022878
Chromosome Location	chr1:186742037-186742038
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10489400	0.88[AFR][1000 genomes]
rs10737268	0.82[AFR][1000 genomes]
rs10752972	0.84[AFR][1000 genomes]
rs10798058	0.82[AFR][1000 genomes]
rs1883272	0.92[AFR][1000 genomes]
rs1997673	0.81[AFR][1000 genomes]
rs2064131	0.92[AFR][1000 genomes]
rs2205952	0.92[AFR][1000 genomes]
rs2223328	0.84[AFR][1000 genomes]
rs2383532	0.92[AFR][1000 genomes]
rs2891253	0.92[AFR][1000 genomes]
rs4140563	0.84[AFR][1000 genomes]
rs4140564	0.84[AFR][1000 genomes]
rs4650702	0.92[AFR][1000 genomes]
rs4651325	0.92[AFR][1000 genomes]
rs6425045	0.92[AFR][1000 genomes]
rs6425046	0.86[AFR][1000 genomes]
rs66476634	0.88[AFR][1000 genomes]
rs6656831	0.84[AFR][1000 genomes]
rs6669569	0.84[AFR][1000 genomes]
rs7517157	0.84[AFR][1000 genomes]
rs7521061	0.84[AFR][1000 genomes]
rs7522771	0.92[AFR][1000 genomes]
rs7537367	0.80[AFR][1000 genomes]
rs760707	0.81[AFR][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv466261	chr1:186652395-186742947	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv548405	chr1:186652395-186742947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186741400-186745200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:186741600-186742200	Enhancers	GM12878-XiMat	blood

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