Variant report

Variant	rs62173290
Chromosome Location	chr2:125641440-125641441
allele	C/T
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:6)

rs_ID	r²[population]
rs2249026	0.94[ASN][1000 genomes]
rs62173289	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62173291	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62173294	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62173295	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62173296	0.98[EUR][1000 genomes];0.99[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	nsv834360	chr2:125492685-125683200	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv834361	chr2:125601081-125810992	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3437146	chr2:125639182-125643780	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
4	esv13274	chr2:125639339-125645009	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	esv3337293	chr2:125639438-125645005	Weak transcription ZNF genes & repeats Enhancers	n/a	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	chr2:125636000-125641600	Weak transcription	Fetal Lung	lung
2	chr2:125639200-125641600	Weak transcription	Fetal Heart	heart
3	chr2:125641400-125642000	ZNF genes & repeats	Fetal Brain Male	brain

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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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