Variant report

Variant	rs57494012
Chromosome Location	chr20:11312340-11312341
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10048850	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16992379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16992385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092643	0.91[EUR][1000 genomes]
rs2207102	0.94[EUR][1000 genomes]
rs2207111	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813983	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56880002	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56916303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57343506	0.88[EUR][1000 genomes]
rs57530621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57628024	0.88[EUR][1000 genomes]
rs58745127	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60059631	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6033098	0.94[EUR][1000 genomes]
rs6033105	0.89[EUR][1000 genomes]
rs6033115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60399139	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6040519	0.94[EUR][1000 genomes]
rs6040525	0.94[EUR][1000 genomes]
rs6040535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040544	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040547	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040549	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040560	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60517966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61045178	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6108901	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6108902	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61252470	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73243915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243929	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243934	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243975	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73243981	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73244000	0.94[EUR][1000 genomes]
rs73245616	0.91[EUR][1000 genomes]
rs73245627	0.91[EUR][1000 genomes]
rs73261557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs982209	1.00[EUR][1000 genomes];1.00[ASN][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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11309800-11314000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:11310200-11314600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr20:11310200-11315200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr20:11310200-11315200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:11310200-11315400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:11310600-11314600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:11311400-11312800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr20:11311600-11313400	Enhancers	NHEK	skin
9	chr20:11311600-11313600	Enhancers	HMEC	breast
10	chr20:11311800-11313600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:11312000-11323200	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links