Variant report

Variant	rs60245354
Chromosome Location	chr5:127572995-127572996
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10070365	0.93[EUR][1000 genomes]
rs10070942	0.86[EUR][1000 genomes]
rs10077809	0.82[EUR][1000 genomes]
rs10478806	0.86[EUR][1000 genomes]
rs13305	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1478448	0.89[EUR][1000 genomes]
rs17676236	0.86[EUR][1000 genomes]
rs17676260	0.86[EUR][1000 genomes]
rs17839651	0.89[EUR][1000 genomes]
rs1862294	0.88[EUR][1000 genomes]
rs1862295	0.89[EUR][1000 genomes]
rs36712	0.82[AFR][1000 genomes]
rs60594762	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6595812	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595814	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6863338	0.88[EUR][1000 genomes]
rs6872315	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6872517	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6876760	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6891025	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891306	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891472	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891479	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891484	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891984	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7288	0.95[EUR][1000 genomes]
rs73784555	0.98[EUR][1000 genomes]
rs7707861	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127572400-127573200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:127572400-127573400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:127572600-127573000	Weak transcription	NHEK	skin
4	chr5:127572800-127573200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:127572800-127573600	Enhancers	Fetal Muscle Leg	muscle
6	chr5:127572800-127573800	Enhancers	Fetal Stomach	stomach

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