Variant report

Variant	rs73261279
Chromosome Location	chr5:114724598-114724599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs198954	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2416405	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs269508	1.00[EUR][1000 genomes]
rs2963761	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73255968	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73255995	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261275	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs897479	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs897480	1.00[EUR][1000 genomes];0.80[ASN][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882733	chr5:114702503-114726351	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114718000-114725200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:114721200-114725200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:114723400-114726000	Enhancers	NHLF	lung
4	chr5:114723800-114726800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:114724000-114726000	Enhancers	NHDF-Ad	bronchial
6	chr5:114724200-114724600	Enhancers	Fetal Kidney	kidney
7	chr5:114724200-114725200	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:114724200-114726000	Enhancers	Fetal Lung	lung
9	chr5:114724400-114725800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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

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