Variant report

Variant	rs1378246
Chromosome Location	chr5:57253889-57253890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10037252	0.92[EUR][1000 genomes]
rs10053148	0.92[EUR][1000 genomes]
rs10054634	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10068767	0.89[EUR][1000 genomes]
rs10080109	0.92[EUR][1000 genomes]
rs1027163	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1037559	0.92[EUR][1000 genomes]
rs10940586	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11743935	0.92[EUR][1000 genomes]
rs1304354	0.92[EUR][1000 genomes]
rs13173455	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs13186838	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1349955	0.91[EUR][1000 genomes]
rs1349956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1378247	0.92[EUR][1000 genomes]
rs1387634	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1454907	0.95[ASN][1000 genomes]
rs1454916	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1454919	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1454922	0.92[EUR][1000 genomes]
rs1454923	0.89[EUR][1000 genomes]
rs1489785	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1489787	0.92[EUR][1000 genomes]
rs1489788	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1489789	0.92[EUR][1000 genomes]
rs1489796	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1546035	0.92[EUR][1000 genomes]
rs1565339	0.92[EUR][1000 genomes]
rs1602155	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1809660	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826098	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1826099	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1840394	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1844436	0.92[EUR][1000 genomes]
rs1948276	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015208	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2198636	0.85[EUR][1000 genomes]
rs35603705	0.82[AMR][1000 genomes]
rs4429810	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4699919	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6450454	0.92[EUR][1000 genomes]
rs6450455	0.92[EUR][1000 genomes]
rs6450456	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6450457	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6864437	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6879399	0.84[AMR][1000 genomes]
rs7710627	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7714449	0.92[EUR][1000 genomes]
rs7715831	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7722307	0.92[EUR][1000 genomes]
rs7725138	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9292147	0.92[EUR][1000 genomes]
rs9292149	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9292150	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs971399	0.87[EUR][1000 genomes]
rs995442	0.92[EUR][1000 genomes]
rs995443	0.83[AMR][1000 genomes];0.92[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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1792273	chr5:57214817-57320343	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1028794	chr5:57242812-57256096	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57250800-57254400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:57251000-57254200	Enhancers	Primary hematopoietic stem cells	blood
3	chr5:57253200-57254400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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