Variant report

Variant	rs324105
Chromosome Location	chr19:52954318-52954319
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	POLR2A	chr19:52949279-52954447	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZNF578	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1599602	1.00[EUR][1000 genomes]
rs2562026	1.00[ASN][1000 genomes]
rs2608533	1.00[ASN][1000 genomes]
rs324093	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324094	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324095	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324097	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324098	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324099	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324100	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324101	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324102	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs326450	1.00[EUR][1000 genomes]
rs35835289	1.00[ASN][1000 genomes]
rs59465772	1.00[EUR][1000 genomes]
rs60186879	1.00[EUR][1000 genomes]
rs60952057	1.00[EUR][1000 genomes]
rs61039331	1.00[EUR][1000 genomes]
rs7259176	1.00[ASN][1000 genomes]
rs8101762	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	esv2762048	chr19:52895166-52997571	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1063648	chr19:52938131-53041119	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3415774	chr19:52938189-52970794	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52953600-52956400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:52954000-52955000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:52954000-52956400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:52954000-52961600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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