Variant report

Variant	rs1945517
Chromosome Location	chr13:39488820-39488821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10870726	0.90[EUR][1000 genomes]
rs1945514	0.87[ASN][1000 genomes]
rs36098057	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4492928	0.89[EUR][1000 genomes]
rs7330643	0.87[ASN][1000 genomes]
rs9532302	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9532303	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9532308	0.86[JPT][hapmap]
rs9548541	0.80[CEU][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9548543	0.90[EUR][1000 genomes]
rs9548547	0.91[TSI][hapmap]
rs9566378	0.89[EUR][1000 genomes]
rs9576641	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9576642	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9594306	0.87[ASN][1000 genomes]
rs9603467	0.87[ASN][1000 genomes]
rs9603481	0.85[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39485200-39489800	Weak transcription	HMEC	breast
2	chr13:39488400-39489000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:39488400-39490000	Enhancers	Liver	Liver
4	chr13:39488800-39489000	Enhancers	A549	lung
5	chr13:39488800-39489000	Flanking Active TSS	Hela-S3	cervix
6	chr13:39488800-39489800	Weak transcription	HepG2	liver

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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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