Variant report

Variant	rs12713009
Chromosome Location	chr2:48524213-48524214
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10153773	0.81[ASN][1000 genomes]
rs10174717	0.82[ASN][1000 genomes]
rs10180295	0.86[ASN][1000 genomes]
rs10186237	0.88[ASN][1000 genomes]
rs10193072	0.86[ASN][1000 genomes]
rs10199431	0.81[ASN][1000 genomes]
rs10208124	0.85[ASN][1000 genomes]
rs11676168	0.82[ASN][1000 genomes]
rs11682044	0.87[ASN][1000 genomes]
rs13383364	0.86[ASN][1000 genomes]
rs13385535	0.82[ASN][1000 genomes]
rs13386751	0.83[ASN][1000 genomes]
rs13387171	0.85[ASN][1000 genomes]
rs13388291	0.85[ASN][1000 genomes]
rs13426834	0.83[ASN][1000 genomes]
rs13432998	0.83[ASN][1000 genomes]
rs28806843	0.88[ASN][1000 genomes]
rs4290706	0.87[ASN][1000 genomes]
rs4411759	0.81[ASN][1000 genomes]
rs4547573	0.85[ASN][1000 genomes]
rs56352447	0.81[ASN][1000 genomes]
rs60677957	0.91[ASN][1000 genomes]
rs62138801	0.88[ASN][1000 genomes]
rs6545027	0.85[ASN][1000 genomes]
rs6545028	0.84[ASN][1000 genomes]
rs6545030	0.80[ASN][1000 genomes]
rs6712029	0.80[ASN][1000 genomes]
rs6757206	0.81[ASN][1000 genomes]
rs72818493	0.87[ASN][1000 genomes]
rs72887649	0.87[ASN][1000 genomes]
rs7568960	0.81[ASN][1000 genomes]
rs7574125	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12713009	FOXN2	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

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

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