Variant report

Variant	rs4738470
Chromosome Location	chr8:54606008-54606009
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54147248..54149206-chr8:54604109..54606269,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1031979	0.83[ASN][1000 genomes]
rs1031980	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10435587	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11994467	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11996300	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12056486	0.85[ASN][1000 genomes]
rs12056719	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12234972	0.83[ASN][1000 genomes]
rs13276766	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1552148	0.83[ASN][1000 genomes]
rs16919508	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16919522	0.85[ASN][1000 genomes]
rs16919534	0.85[ASN][1000 genomes]
rs16919537	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16919541	0.85[ASN][1000 genomes]
rs16919563	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16919571	0.82[ASN][1000 genomes]
rs16919573	0.83[ASN][1000 genomes]
rs1872063	0.86[AMR][1000 genomes]
rs1905061	0.83[ASN][1000 genomes]
rs2128150	0.87[ASN][1000 genomes]
rs2170444	0.83[ASN][1000 genomes]
rs2376011	0.85[ASN][1000 genomes]
rs3735831	0.83[ASN][1000 genomes]
rs3757954	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs41321146	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4236945	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4737192	0.82[ASN][1000 genomes]
rs4737518	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4737554	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4737558	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4737764	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4737765	0.83[ASN][1000 genomes]
rs4737821	0.82[ASN][1000 genomes]
rs4738646	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4738701	0.82[AMR][1000 genomes]
rs4738884	0.85[ASN][1000 genomes]
rs4738916	0.84[ASN][1000 genomes]
rs55682919	0.82[AMR][1000 genomes]
rs55876329	0.83[ASN][1000 genomes]
rs56818292	0.93[ASN][1000 genomes]
rs56973376	0.87[ASN][1000 genomes]
rs57550901	0.82[AMR][1000 genomes]
rs58473841	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58558817	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58970885	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61070518	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6984257	0.82[ASN][1000 genomes]
rs6986372	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6987427	0.85[ASN][1000 genomes]
rs6988008	0.82[ASN][1000 genomes]
rs6988009	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6988082	0.82[AMR][1000 genomes]
rs6988812	0.83[ASN][1000 genomes]
rs6997003	0.83[ASN][1000 genomes]
rs6997127	0.83[ASN][1000 genomes]
rs6999454	0.86[ASN][1000 genomes]
rs7009705	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7018162	0.83[ASN][1000 genomes]
rs73587624	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73587627	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73682555	0.88[ASN][1000 genomes]
rs73682568	0.85[ASN][1000 genomes]
rs73682570	0.85[ASN][1000 genomes]
rs7387704	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7843701	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs900163	0.85[ASN][1000 genomes]
rs958268	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9643480	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9643819	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9643820	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv890919	chr8:54521248-54607336	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv890920	chr8:54559770-54626539	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54604800-54606200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:54605200-54606200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr8:54605400-54606200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:54605400-54606200	Active TSS	Brain Substantia Nigra	brain
5	chr8:54605400-54606200	Active TSS	Monocytes-CD14+_RO01746	blood
6	chr8:54605600-54606200	Active TSS	A549	lung
7	chr8:54605800-54606200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:54605800-54606200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:54605800-54606200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:54605800-54606200	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:54605800-54626800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:54606000-54606200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:54606000-54606200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:54606000-54606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:54606000-54606200	Active TSS	Brain Germinal Matrix	brain
16	chr8:54606000-54606200	Enhancers	Colon Smooth Muscle	Colon
17	chr8:54606000-54606200	Enhancers	Fetal Lung	lung
18	chr8:54606000-54606400	Enhancers	Stomach Smooth Muscle	stomach

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