Variant report

Variant	rs73365647
Chromosome Location	chr12:60606035-60606036
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	chr12:60605993-60606288	Hela-S3	cervix:	n/a	chr12:60606132-60606143
2	CEBPB	chr12:60605959-60606420	K562	blood:	n/a	chr12:60606132-60606143
3	CEBPB	chr12:60605954-60606305	IMR90	lung:	n/a	chr12:60606132-60606143
4	CEBPB	chr12:60606000-60606252	H1-hESC	embryonic stem cell:	n/a	chr12:60606132-60606143
5	CEBPB	chr12:60605980-60606326	HepG2	liver:	n/a	chr12:60606132-60606143
6	CEBPB	chr12:60605962-60606307	A549	lung:	n/a	chr12:60606132-60606143

Variant related genes	Relation type
ENSG00000258184	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11832585	1.00[EUR][1000 genomes]
rs11832722	1.00[EUR][1000 genomes]
rs11834001	1.00[EUR][1000 genomes]
rs1948444	1.00[EUR][1000 genomes]
rs3847659	1.00[EUR][1000 genomes]
rs3847660	1.00[EUR][1000 genomes]
rs4758850	1.00[EUR][1000 genomes]
rs7132956	1.00[EUR][1000 genomes]
rs73351905	1.00[EUR][1000 genomes]
rs73355386	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73355390	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73355396	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73357118	1.00[EUR][1000 genomes]
rs73357123	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73357124	1.00[EUR][1000 genomes]
rs73357126	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73357128	1.00[EUR][1000 genomes]
rs73357132	0.86[AFR][1000 genomes]
rs73357137	1.00[EUR][1000 genomes]
rs73357141	1.00[EUR][1000 genomes]
rs73357774	1.00[EUR][1000 genomes]
rs73364822	1.00[EUR][1000 genomes]
rs73364863	1.00[EUR][1000 genomes]
rs73364867	1.00[EUR][1000 genomes]
rs73364874	1.00[EUR][1000 genomes]
rs73364876	1.00[EUR][1000 genomes]
rs73365604	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73365607	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73365610	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73365614	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73365615	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73365622	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73365630	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73365639	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73365644	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73365653	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73365654	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73367151	1.00[EUR][1000 genomes]
rs73367159	1.00[EUR][1000 genomes]
rs73367163	1.00[EUR][1000 genomes]
rs73368260	1.00[EUR][1000 genomes]
rs73368266	1.00[EUR][1000 genomes]
rs73368845	1.00[EUR][1000 genomes]
rs73368875	1.00[EUR][1000 genomes]
rs73368992	1.00[EUR][1000 genomes]
rs73368998	1.00[EUR][1000 genomes]
rs73369000	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73370709	1.00[EUR][1000 genomes]
rs73370724	1.00[EUR][1000 genomes]
rs73370735	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73370758	1.00[EUR][1000 genomes]
rs73370766	1.00[EUR][1000 genomes]
rs73370770	1.00[EUR][1000 genomes]
rs73370779	1.00[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	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60599600-60645400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60606000-60606800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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