Variant report

Variant	rs164253
Chromosome Location	chr5:112794251-112794252
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1035408	0.86[AMR][1000 genomes]
rs11241203	0.83[AFR][1000 genomes]
rs1517208	0.85[AFR][1000 genomes]
rs1517210	0.81[AFR][1000 genomes]
rs1593953	0.82[AMR][1000 genomes]
rs164251	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs171181	0.91[AMR][1000 genomes]
rs17327526	0.83[AFR][1000 genomes]
rs1820056	0.83[AMR][1000 genomes]
rs182987	0.89[AMR][1000 genomes]
rs190453	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2416282	0.82[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2431548	0.89[AMR][1000 genomes]
rs2434664	0.91[AMR][1000 genomes]
rs2434665	0.87[AMR][1000 genomes]
rs255856	0.85[AFR][1000 genomes]
rs255858	0.85[AFR][1000 genomes]
rs255874	0.85[AFR][1000 genomes]
rs26983	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs27566	0.85[AFR][1000 genomes]
rs27700	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs27718	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2914252	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs348927	0.84[AMR][1000 genomes]
rs348933	0.89[AMR][1000 genomes]
rs348937	0.80[CEU][hapmap]
rs348943	0.81[CEU][hapmap]
rs348949	0.91[AMR][1000 genomes]
rs348950	0.91[AMR][1000 genomes]
rs348953	0.91[AMR][1000 genomes]
rs348959	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36612	0.90[AFR][1000 genomes]
rs368352	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3857435	0.85[AFR][1000 genomes]
rs406288	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs423089	0.91[AMR][1000 genomes]
rs459428	0.93[AMR][1000 genomes]
rs461034	0.90[AMR][1000 genomes]
rs463216	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs465898	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs466564	0.81[AFR][1000 genomes]
rs485210	0.81[AFR][1000 genomes]
rs492346	0.81[AFR][1000 genomes]
rs6594711	0.85[AFR][1000 genomes]
rs675353	0.91[AMR][1000 genomes]
rs6869097	0.81[AFR][1000 genomes]
rs6879612	0.82[AMR][1000 genomes]
rs7702120	0.85[AFR][1000 genomes]
rs9686772	0.85[AMR][1000 genomes]

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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112786200-112810000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112788000-112808000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:112788200-112807600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112791200-112795200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:112794200-112794800	Strong transcription	NHEK	skin

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