Variant report

Variant	rs73247445
Chromosome Location	chr5:112848230-112848231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr5:112848139-112848245	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr5:112848136-112848441	MCF10A-Er-Src	breast:	n/a	n/a
3	RCOR1	chr5:112848211-112849835	IMR90	lung:	n/a	n/a
4	FOS	chr5:112848096-112848442	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr5:112848129-112848704	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr5:112848101-112848445	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr5:112848053-112848319	HepG2	liver:	n/a	n/a
8	FOS	chr5:112848175-112848313	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr5:112848189-112848407	MCF10A-Er-Src	breast:	n/a	n/a
10	FOXA2	chr5:112848069-112848240	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112538594..112540259-chr5:112848065..112850694,2	MCF-7	breast:
2	chr5:112714356..112715276-chr5:112847595..112848868,4	MCF-7	breast:

Variant related genes	Relation type
YTHDC2	TF binding region
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11747924	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11748145	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11748794	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12519323	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12519818	0.82[ASN][1000 genomes]
rs17135630	0.85[ASN][1000 genomes]
rs17135753	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17135754	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1833678	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2042222	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2416281	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846722	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4122546	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705551	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705558	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4705826	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57077871	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6594737	0.83[AMR][1000 genomes]
rs66490974	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66497221	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66502937	0.82[ASN][1000 genomes]
rs66583752	0.82[ASN][1000 genomes]
rs67020702	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67103739	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67268709	0.82[ASN][1000 genomes]
rs67723806	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6859688	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6861786	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6864369	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6878001	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6879800	0.82[ASN][1000 genomes]
rs6882900	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6883441	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6884704	0.84[ASN][1000 genomes]
rs6896469	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6896501	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72792179	0.83[ASN][1000 genomes]
rs72794121	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72805465	0.84[EUR][1000 genomes]
rs73241779	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73242809	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7702833	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7707443	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7729433	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs957777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112844800-112848800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:112845000-112848800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:112845200-112848600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:112845400-112848600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:112847200-112849000	Enhancers	Gastric	stomach
6	chr5:112847600-112848600	Enhancers	Aorta	Aorta
7	chr5:112847800-112848800	Enhancers	HepG2	liver
8	chr5:112847800-112849000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:112847800-112849000	Enhancers	HMEC	breast
10	chr5:112848000-112848800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:112848000-112848800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:112848000-112848800	Enhancers	NHEK	skin

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