Variant report

Variant	rs11954853
Chromosome Location	chr5:42224565-42224566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10037143	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10050512	0.92[EUR][1000 genomes]
rs10054119	0.86[EUR][1000 genomes]
rs10060873	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10064990	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10073423	0.92[EUR][1000 genomes]
rs10078494	0.94[EUR][1000 genomes]
rs10079521	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10461734	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10461735	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10461736	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10462034	0.90[EUR][1000 genomes]
rs1073273	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1110874	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12153093	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12522095	0.96[ASN][1000 genomes]
rs13189999	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1354108	0.97[EUR][1000 genomes]
rs1501513	0.95[EUR][1000 genomes]
rs1501515	0.90[ASN][1000 genomes]
rs1501516	0.96[EUR][1000 genomes]
rs1501517	0.96[EUR][1000 genomes]
rs1501518	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1501519	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1827329	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1827330	0.95[EUR][1000 genomes]
rs1827331	0.96[EUR][1000 genomes]
rs1875430	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1876789	0.86[EUR][1000 genomes]
rs1909950	0.91[ASN][1000 genomes]
rs1909951	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1995351	0.94[EUR][1000 genomes]
rs2134102	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34035285	0.88[EUR][1000 genomes]
rs34813199	0.86[EUR][1000 genomes]
rs35005365	0.88[EUR][1000 genomes]
rs35707555	0.89[EUR][1000 genomes]
rs36072701	0.90[ASN][1000 genomes]
rs3885984	0.92[EUR][1000 genomes]
rs3913458	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3913459	0.92[EUR][1000 genomes]
rs4242098	0.91[EUR][1000 genomes]
rs4305644	0.90[EUR][1000 genomes]
rs4320267	0.89[EUR][1000 genomes]
rs4404722	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4457090	0.90[EUR][1000 genomes]
rs4460174	0.99[EUR][1000 genomes]
rs4489104	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4533937	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957203	0.94[EUR][1000 genomes]
rs4957204	0.94[EUR][1000 genomes]
rs58911119	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6451592	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6451605	0.84[EUR][1000 genomes]
rs6861819	0.89[EUR][1000 genomes]
rs6872878	0.91[EUR][1000 genomes]
rs6888449	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6890248	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7379247	0.90[ASN][1000 genomes]
rs7713544	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7715104	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715374	0.89[EUR][1000 genomes]
rs7718368	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs905097	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9292843	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9292848	0.87[EUR][1000 genomes]
rs990898	0.83[AMR][1000 genomes];0.94[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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1034208	chr5:42119128-42290759	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr5:42219400-42228600	Weak transcription	Adipose Nuclei	Adipose
2	chr5:42223200-42228400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:42224000-42225400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:42224400-42226600	Enhancers	HUES48 Cell Line	embryonic stem cell

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