Variant report

Variant	rs11994467
Chromosome Location	chr8:54614979-54614980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54614151..54616881-chr8:54622890..54625467,2	MCF-7	breast:
2	chr8:54614266..54615818-chr8:54636955..54638612,2	K562	blood:

Variant related genes	Relation type
ENSG00000253668	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1031979	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1031980	0.85[ASN][1000 genomes]
rs10435587	0.88[ASN][1000 genomes]
rs11996300	0.83[ASN][1000 genomes]
rs12056486	0.88[ASN][1000 genomes]
rs12056719	0.88[ASN][1000 genomes]
rs12234972	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13276766	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1552148	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16919522	0.88[ASN][1000 genomes]
rs16919534	0.88[ASN][1000 genomes]
rs16919537	0.88[ASN][1000 genomes]
rs16919541	0.87[ASN][1000 genomes]
rs16919563	0.84[ASN][1000 genomes]
rs16919571	0.84[ASN][1000 genomes]
rs16919573	0.85[ASN][1000 genomes]
rs1872063	0.81[ASN][1000 genomes]
rs1905061	0.85[ASN][1000 genomes]
rs2128150	0.89[ASN][1000 genomes]
rs2170444	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2376011	0.88[ASN][1000 genomes]
rs3735831	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3757954	0.84[ASN][1000 genomes]
rs41321146	0.88[ASN][1000 genomes]
rs4236945	0.84[ASN][1000 genomes]
rs4737192	0.84[ASN][1000 genomes]
rs4737554	0.90[ASN][1000 genomes]
rs4737558	0.90[ASN][1000 genomes]
rs4737764	0.84[ASN][1000 genomes]
rs4737765	0.85[ASN][1000 genomes]
rs4737821	0.84[ASN][1000 genomes]
rs4738470	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738646	0.95[ASN][1000 genomes]
rs4738884	0.87[ASN][1000 genomes]
rs4738916	0.86[ASN][1000 genomes]
rs55876329	0.85[ASN][1000 genomes]
rs55964335	0.81[ASN][1000 genomes]
rs56818292	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56973376	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58473841	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58558817	0.88[ASN][1000 genomes]
rs61070518	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984257	0.84[ASN][1000 genomes]
rs6986372	0.90[ASN][1000 genomes]
rs6987427	0.88[ASN][1000 genomes]
rs6988009	0.85[ASN][1000 genomes]
rs6988812	0.85[ASN][1000 genomes]
rs6997003	0.85[ASN][1000 genomes]
rs6997127	0.85[ASN][1000 genomes]
rs6999454	0.88[ASN][1000 genomes]
rs7018162	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73587624	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73587627	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73682555	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73682568	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73682570	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7387704	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7843701	0.84[ASN][1000 genomes]
rs900163	0.88[ASN][1000 genomes]
rs9643480	0.89[ASN][1000 genomes]
rs9643819	0.89[ASN][1000 genomes]
rs9643820	0.85[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	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	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54605800-54626800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:54613600-54629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54613600-54634800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:54613800-54615600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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