Variant report

Variant	rs73849786
Chromosome Location	chr4:142497626-142497627
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	EBF1	chr4:142497420-142497692	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250141	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17007403	1.00[AMR][1000 genomes]
rs56103800	1.00[AMR][1000 genomes]
rs56108079	1.00[AMR][1000 genomes]
rs56111938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56286019	1.00[AMR][1000 genomes]
rs57331722	1.00[AMR][1000 genomes]
rs60179842	1.00[AFR][1000 genomes]
rs60514765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61098551	1.00[AMR][1000 genomes]
rs71608441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849761	1.00[AMR][1000 genomes]
rs73849768	1.00[AMR][1000 genomes]
rs73849769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849774	1.00[AMR][1000 genomes]
rs73849775	1.00[AMR][1000 genomes]
rs73849779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849900	1.00[AMR][1000 genomes]
rs73851548	1.00[AFR][1000 genomes]
rs73852907	1.00[AMR][1000 genomes]
rs73852910	1.00[AMR][1000 genomes]
rs73852914	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880172	chr4:142355535-142565089	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv880173	chr4:142355535-142666106	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830094	chr4:142411738-142567788	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv526989	chr4:142444108-142501053	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1030822	chr4:142487721-142706053	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142494600-142498400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:142496400-142498200	Enhancers	Fetal Lung	lung
3	chr4:142497400-142498000	Enhancers	Esophagus	oesophagus
4	chr4:142497600-142498000	Flanking Active TSS	Osteobl	bone
5	chr4:142497600-142498200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:142497600-142512200	Weak transcription	A549	lung

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