Variant report

Variant	rs60454288
Chromosome Location	chr4:121213778-121213779
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11940175	1.00[EUR][1000 genomes]
rs1389430	1.00[EUR][1000 genomes]
rs17011066	1.00[EUR][1000 genomes]
rs17011138	1.00[EUR][1000 genomes]
rs34768491	1.00[EUR][1000 genomes]
rs56096220	1.00[EUR][1000 genomes]
rs6534173	1.00[EUR][1000 genomes]
rs67050720	1.00[EUR][1000 genomes]
rs6815652	1.00[EUR][1000 genomes]
rs6835106	1.00[EUR][1000 genomes]
rs6854986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916082	1.00[EUR][1000 genomes]
rs72916095	1.00[EUR][1000 genomes]
rs72916101	1.00[EUR][1000 genomes]
rs72918117	1.00[EUR][1000 genomes]
rs72920007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920025	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920040	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920062	1.00[EUR][1000 genomes]
rs72920064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920091	1.00[EUR][1000 genomes]
rs72920098	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72922111	1.00[AMR][1000 genomes]
rs72922130	0.82[AFR][1000 genomes]
rs73842810	1.00[EUR][1000 genomes]
rs7676044	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv595333	chr4:121093248-121440368	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1005240	chr4:121093285-121420997	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121208600-121213800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:121212600-121214200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:121213400-121215400	Enhancers	Osteobl	bone
4	chr4:121213600-121215000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:121213600-121215800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links