Variant report

Variant	rs60111420
Chromosome Location	chr5:147581729-147581730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56173148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56670217	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6862717	1.00[AMR][1000 genomes]
rs6890897	1.00[AMR][1000 genomes]
rs73276421	1.00[AMR][1000 genomes]
rs73795036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv830515	chr5:147460852-147602247	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv980947	chr5:147571596-147583858	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1845496	chr5:147576457-147586789	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147572200-147582000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:147573200-147584000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:147576600-147582400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:147579600-147583800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:147579800-147584800	Weak transcription	Fetal Intestine Large	intestine
6	chr5:147581400-147581800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:147581400-147582400	Enhancers	NHEK	skin
8	chr5:147581600-147582200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:147581600-147582800	Enhancers	HMEC	breast
10	chr5:147581600-147584800	Weak transcription	Monocytes-CD14+_RO01746	blood

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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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