Variant report

Variant	rs60527700
Chromosome Location	chr5:58368947-58368948
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11957770	1.00[EUR][1000 genomes]
rs13360359	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16889175	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2277013	1.00[AMR][1000 genomes]
rs3805555	1.00[AMR][1000 genomes]
rs56658018	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57338410	1.00[AMR][1000 genomes]
rs57454281	1.00[AMR][1000 genomes]
rs57718768	1.00[AMR][1000 genomes]
rs58202935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58688754	1.00[AMR][1000 genomes]
rs58830206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59840765	1.00[AMR][1000 genomes]
rs60286676	1.00[AMR][1000 genomes]
rs60741550	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60790143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60836618	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60900708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61288498	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6869400	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73093337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093348	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1032308	chr5:58312468-58371239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58336200-58375600	Weak transcription	Left Ventricle	heart
2	chr5:58360600-58373800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:58365400-58375200	Weak transcription	Hela-S3	cervix
4	chr5:58365600-58369000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:58366000-58375600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:58366000-58375800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:58366600-58371000	Genic enhancers	A549	lung
8	chr5:58367200-58369600	Enhancers	HepG2	liver
9	chr5:58368400-58369000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:58368400-58369400	Weak transcription	Psoas Muscle	Psoas
11	chr5:58368800-58369200	Enhancers	Placenta Amnion	Placenta Amnion

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