Variant report

Variant	rs12616031
Chromosome Location	chr2:145918514-145918515
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]
rs10496974	0.83[AMR][1000 genomes]
rs13007065	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13032601	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35013571	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs36032963	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55949700	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67920867	0.82[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	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1004846	chr2:145852801-145919056	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145914000-145938600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:145916200-145918600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:145916200-145929000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:145917800-145924400	Weak transcription	Fetal Lung	lung

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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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