Variant report

Variant	rs60150005
Chromosome Location	chr5:117898604-117898605
allele	C/T
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	CEBPB	chr5:117898314-117898635	A549	lung:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
2	CEBPB	chr5:117898339-117898607	H1-hESC	embryonic stem cell:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
3	CEBPB	chr5:117898330-117898641	IMR90	lung:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
4	POLR2A	chr5:117898451-117898651	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr5:117898306-117898626	HepG2	liver:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
6	CEBPB	chr5:117898345-117898611	Hela-S3	cervix:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
7	CEBPB	chr5:117898360-117898614	MCF-7	breast:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
8	CEBPB	chr5:117898380-117898661	K562	blood:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493

Variant related genes	Relation type
ENSG00000250891	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs2217396	0.84[EUR][1000 genomes]
rs57480014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57716066	1.00[EUR][1000 genomes]
rs59444512	0.84[EUR][1000 genomes]
rs59609311	0.84[EUR][1000 genomes]
rs60003131	0.84[EUR][1000 genomes]
rs60937030	0.84[EUR][1000 genomes]
rs6595147	0.84[EUR][1000 genomes]
rs6858980	0.84[EUR][1000 genomes]
rs6868251	1.00[EUR][1000 genomes]
rs6872428	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6876252	0.84[EUR][1000 genomes]
rs6878364	0.84[EUR][1000 genomes]
rs6880410	0.84[EUR][1000 genomes]
rs6891112	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6897820	0.84[EUR][1000 genomes]
rs6898763	0.84[EUR][1000 genomes]
rs6898917	0.84[EUR][1000 genomes]
rs6899232	1.00[EUR][1000 genomes]
rs73234333	1.00[EUR][1000 genomes]
rs73234339	0.84[EUR][1000 genomes]
rs73234341	1.00[EUR][1000 genomes]
rs73234349	0.84[EUR][1000 genomes]
rs73234352	0.84[EUR][1000 genomes]
rs73234358	0.84[EUR][1000 genomes]
rs73234360	0.84[EUR][1000 genomes]
rs73234362	0.84[EUR][1000 genomes]
rs73234365	0.84[EUR][1000 genomes]
rs73234366	0.84[EUR][1000 genomes]
rs73234375	0.84[EUR][1000 genomes]
rs73234376	0.84[EUR][1000 genomes]
rs73236250	0.84[EUR][1000 genomes]
rs73236252	0.84[EUR][1000 genomes]
rs73236255	0.84[EUR][1000 genomes]
rs73251230	1.00[EUR][1000 genomes]
rs7703116	0.84[EUR][1000 genomes]
rs7731955	0.84[EUR][1000 genomes]
rs7731988	0.84[EUR][1000 genomes]
rs7732518	1.00[EUR][1000 genomes]
rs7737909	0.84[EUR][1000 genomes]
rs995881	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027428	chr5:117072745-118036353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537877	chr5:117072745-118036353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1067621	chr5:117102544-118036352	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv531292	chr5:117102544-118036352	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv432802	chr5:117612408-117921244	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv2758013	chr5:117664725-117942247	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv2759373	chr5:117664725-117942247	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv462422	chr5:117740545-118020706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv599529	chr5:117740545-118020706	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv427731	chr5:117781143-118023504	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv1021863	chr5:117832733-117955524	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv462424	chr5:117843869-117955570	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv599539	chr5:117843869-117955570	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv462425	chr5:117843869-117967472	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv599540	chr5:117843869-117967472	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv599541	chr5:117869174-118049776	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv1024374	chr5:117882620-117909965	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv882764	chr5:117884766-118014946	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv1027667	chr5:117891559-118036578	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv882765	chr5:117893138-118020617	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv882766	chr5:117893138-118032245	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117895200-117901200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:117895800-117900600	Weak transcription	Brain Germinal Matrix	brain
3	chr5:117896000-117901000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:117897400-117900200	Enhancers	Fetal Heart	heart
5	chr5:117898000-117900600	Weak transcription	Fetal Brain Male	brain
6	chr5:117898400-117899000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:117898600-117898800	Enhancers	Left Ventricle	heart
8	chr5:117898600-117898800	Enhancers	Right Atrium	heart
9	chr5:117898600-117899000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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