Variant report

Variant	rs60612280
Chromosome Location	chr1:224783853-224783854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs57229243	0.96[AFR][1000 genomes]
rs6657458	0.93[AFR][1000 genomes]
rs6662556	0.92[AFR][1000 genomes]
rs6665515	0.92[AFR][1000 genomes]
rs6665990	0.92[AFR][1000 genomes]
rs6692224	0.92[AFR][1000 genomes]
rs6693977	0.87[AFR][1000 genomes]
rs6696718	0.92[AFR][1000 genomes]
rs6698835	0.92[AFR][1000 genomes]
rs74146394	1.00[AFR][1000 genomes]
rs74146398	0.94[AFR][1000 genomes]
rs74146401	1.00[AFR][1000 genomes]
rs74149603	0.92[AFR][1000 genomes]
rs74149604	0.92[AFR][1000 genomes]
rs74149605	0.92[AFR][1000 genomes]
rs74149612	0.92[AFR][1000 genomes]
rs74149613	0.89[AFR][1000 genomes]
rs74149614	0.92[AFR][1000 genomes]
rs74149615	0.85[AFR][1000 genomes]
rs74149616	0.89[AFR][1000 genomes]
rs74149617	0.84[AFR][1000 genomes]
rs74149619	0.89[AFR][1000 genomes]
rs74149620	0.82[AFR][1000 genomes]
rs74149623	0.82[AFR][1000 genomes]
rs7535822	0.85[AFR][1000 genomes]
rs7538777	0.81[AFR][1000 genomes]
rs9659505	0.87[AFR][1000 genomes]
rs9659736	0.89[AFR][1000 genomes]
rs9660953	0.87[AFR][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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	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	chr1:224781200-224793800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:224781600-224787200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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