Variant report

Variant	rs2593447
Chromosome Location	chr2:30925450-30925451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13414988	0.82[EUR][1000 genomes]
rs13428030	0.81[EUR][1000 genomes]
rs2280404	0.83[EUR][1000 genomes]
rs2946928	0.89[AFR][1000 genomes]
rs6548029	0.82[EUR][1000 genomes]
rs6748488	0.82[EUR][1000 genomes]
rs9679326	0.83[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv32718	chr2:30918546-30926192	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 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	chr2:30902400-30954000	Weak transcription	Gastric	stomach
2	chr2:30923600-30926200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:30924800-30925600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:30924800-30925600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr2:30925400-30926800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:30925400-30927200	Weak transcription	Fetal Heart	heart

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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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