Variant report

Variant	rs293027
Chromosome Location	chr5:58014691-58014692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1035393	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1422226	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149351	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs149525	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158987	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158990	0.85[ASN][1000 genomes]
rs158997	0.81[ASN][1000 genomes]
rs158999	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs159000	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs159003	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs159004	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs159006	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs159007	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs159008	0.81[ASN][1000 genomes]
rs172397	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs172398	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs176637	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176807	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182391	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs186010	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1895232	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161246	0.85[ASN][1000 genomes]
rs2545789	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2591920	0.94[EUR][1000 genomes]
rs2591922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290572	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292948	0.91[EUR][1000 genomes]
rs292949	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs293000	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs293002	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs293005	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293006	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293007	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293008	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs293009	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs293010	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs293013	0.95[EUR][1000 genomes]
rs293014	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs293018	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293019	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293023	0.92[ASN][1000 genomes]
rs293025	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293026	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs49961	0.91[AMR][1000 genomes];0.96[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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1029145	chr5:57905821-58141221	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830311	chr5:57912546-58105636	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58012800-58015800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:58012800-58018800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:58013000-58015000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:58013600-58017600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:58013600-58019400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:58013800-58015200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:58014000-58015400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:58014000-58015800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:58014000-58017200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:58014000-58018000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:58014200-58015000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:58014200-58015800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:58014200-58017200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:58014400-58017800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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