Variant report

Variant	rs59373561
Chromosome Location	chr13:49361881-49361882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17072243	0.85[AFR][1000 genomes]
rs17072250	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58685015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59758439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61195757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7325790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7334277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs746031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7981936	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832606	chr13:49352212-49506009	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49357400-49365200	Weak transcription	NH-A	brain
2	chr13:49358200-49365200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr13:49358200-49365400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:49358200-49365600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:49358400-49364400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:49358400-49365200	Weak transcription	NHLF	lung
7	chr13:49358600-49365000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:49359200-49364400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:49360000-49362600	Enhancers	Placenta	Placenta
10	chr13:49360800-49365600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:49361600-49364400	Weak transcription	Hela-S3	cervix
12	chr13:49361800-49362200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	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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