Variant report

Variant	rs17040472
Chromosome Location	chr2:115486005-115486006
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13401032	1.00[AMR][1000 genomes]
rs17043347	1.00[AMR][1000 genomes]
rs17043375	1.00[AMR][1000 genomes]
rs17043379	1.00[AMR][1000 genomes]
rs17043382	1.00[AMR][1000 genomes]
rs72955626	1.00[AMR][1000 genomes]
rs72955637	1.00[AMR][1000 genomes]
rs72955641	1.00[AMR][1000 genomes]
rs72955645	1.00[AMR][1000 genomes]
rs72955660	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955672	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955673	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955686	1.00[AMR][1000 genomes]
rs72955695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955701	1.00[AFR][1000 genomes];1.00[AMR][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	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv431502	chr2:115139566-115617936	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv431524	chr2:115425650-115530770	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115484600-115486200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:115485200-115486800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:115485200-115487200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:115485600-115486600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:115485600-115486600	Enhancers	HepG2	liver
6	chr2:115485800-115486600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:115486000-115487200	Enhancers	H9 Cell Line	embryonic stem cell

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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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