Variant report

Variant	rs10020493
Chromosome Location	chr4:69115110-69115111
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	EP300	chr4:69115062-69115505	GM12878	blood:	n/a	chr4:69115450-69115459
2	CREB1	chr4:69115026-69115671	GM12878	blood:	n/a	n/a
3	WRNIP1	chr4:69115107-69115408	GM12878	blood:	n/a	n/a
4	NFIC	chr4:69114999-69115622	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:69115013-69115213	MCF10A-Er-Src	breast:	n/a	n/a
6	RUNX3	chr4:69115018-69115593	GM12878	blood:	n/a	n/a
7	SPI1	chr4:69115069-69115839	GM12878	blood:	n/a	chr4:69115451-69115458 chr4:69115450-69115459 chr4:69115449-69115462 chr4:69115449-69115462 chr4:69115448-69115461

Variant related genes	Relation type
TMPRSS11B	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10006271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10014409	1.00[AMR][1000 genomes]
rs10021670	1.00[AMR][1000 genomes]
rs10024896	1.00[AMR][1000 genomes]
rs11942344	1.00[AMR][1000 genomes]
rs11942378	1.00[AMR][1000 genomes]
rs17089175	1.00[AMR][1000 genomes]
rs17089201	1.00[AMR][1000 genomes]
rs17089205	1.00[AMR][1000 genomes]
rs17089208	1.00[AMR][1000 genomes]
rs2319801	1.00[AMR][1000 genomes]
rs2319802	1.00[AMR][1000 genomes]
rs28403934	1.00[AMR][1000 genomes]
rs28408073	1.00[AMR][1000 genomes]
rs28410736	1.00[AMR][1000 genomes]
rs28515192	1.00[AMR][1000 genomes]
rs28539319	1.00[AMR][1000 genomes]
rs28578038	1.00[AMR][1000 genomes]
rs28582887	1.00[AMR][1000 genomes]
rs28648604	1.00[AMR][1000 genomes]
rs28674479	1.00[AMR][1000 genomes]
rs28701106	1.00[AMR][1000 genomes]
rs28731370	1.00[AMR][1000 genomes]
rs2874082	1.00[AMR][1000 genomes]
rs28873764	1.00[AMR][1000 genomes]
rs35341131	1.00[AMR][1000 genomes]
rs4259127	1.00[AMR][1000 genomes]
rs4307039	1.00[AMR][1000 genomes]
rs4307040	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4423941	1.00[AMR][1000 genomes]
rs4431295	1.00[AMR][1000 genomes]
rs4569822	1.00[AMR][1000 genomes]
rs4607294	1.00[AMR][1000 genomes]
rs6823555	1.00[AMR][1000 genomes]
rs9312194	1.00[AMR][1000 genomes]
rs953289	1.00[AMR][1000 genomes]
rs9985745	1.00[AMR][1000 genomes]
rs9985874	1.00[AMR][1000 genomes]
rs9994398	1.00[AMR][1000 genomes]
rs9998367	1.00[AMR][1000 genomes]
rs9999835	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1812438	chr4:68943858-69154222	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv461546	chr4:69049643-69223057	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv594506	chr4:69049643-69223057	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr4:69115000-69115400	Flanking Active TSS	GM12878-XiMat	blood
2	chr4:69115000-69116200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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