Variant report

Variant	rs4848942
Chromosome Location	chr2:125343458-125343459
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12618619	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs1504019	0.95[CHB][hapmap]
rs1504020	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs4364025	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs4592856	0.85[ASN][1000 genomes]
rs4848940	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs4848943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4848944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6744929	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs6757634	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs6757796	0.95[CHB][hapmap];0.89[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	nsv1014610	chr2:125124983-125350342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv834357	chr2:125258157-125421507	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125321600-125345200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:125342000-125344000	Enhancers	HepG2	liver
3	chr2:125342600-125343600	Enhancers	Fetal Intestine Large	intestine

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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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