Variant report

Variant	rs56044395
Chromosome Location	chr13:30263540-30263541
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11841138	0.82[EUR][1000 genomes]
rs11841148	0.82[EUR][1000 genomes]
rs11841157	0.82[EUR][1000 genomes]
rs12864518	0.82[EUR][1000 genomes]
rs12871145	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12876062	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17073796	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17073799	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1831095	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34102821	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34177704	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34203921	0.82[EUR][1000 genomes]
rs34622544	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34953541	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35331003	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35409650	0.82[EUR][1000 genomes]
rs35933222	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36018849	0.82[EUR][1000 genomes]
rs66982000	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67704126	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73157103	0.88[AMR][1000 genomes]
rs73157108	0.86[AMR][1000 genomes]
rs7324224	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7992067	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7996713	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9579456	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9579458	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9579460	0.97[AMR][1000 genomes];0.96[EUR][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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30259800-30263600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:30262400-30267800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:30263400-30264000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr13:30263400-30266200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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