Variant report

Variant	rs1400224
Chromosome Location	chr5:58239858-58239859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12188697	0.84[EUR][1000 genomes]
rs17291089	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17719258	0.89[EUR][1000 genomes]
rs57718768	0.94[ASN][1000 genomes]
rs57835046	0.91[ASN][1000 genomes]
rs60286676	0.91[ASN][1000 genomes]
rs60741550	0.81[ASN][1000 genomes]
rs60836618	0.81[ASN][1000 genomes]
rs6883494	0.91[ASN][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58237600-58241800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58238600-58240000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:58239200-58241000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:58239400-58241000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:58239400-58241000	Enhancers	HSMMtube	muscle
6	chr5:58239600-58240800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:58239600-58241000	Enhancers	Osteobl	bone
8	chr5:58239600-58251800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:58239800-58240000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:58239800-58240000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:58239800-58241000	Enhancers	HSMM	muscle

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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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