Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51760432-51760552	A549	lung:	n/a	n/a

Variant related genes	Relation type
SIGLECL1	TF binding region

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10404032	1.00[EUR][1000 genomes]
rs10407368	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10407913	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10408172	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10414234	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10416077	1.00[EUR][1000 genomes]
rs10416406	1.00[EUR][1000 genomes]
rs10418346	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10426210	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882250	0.83[AMR][1000 genomes]
rs13344455	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16982575	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16982584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28625921	0.83[AMR][1000 genomes]
rs28765496	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4330015	1.00[EUR][1000 genomes]
rs55932809	1.00[EUR][1000 genomes]
rs56663899	1.00[EUR][1000 genomes]
rs57490406	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58981829	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509522	1.00[EUR][1000 genomes]
rs7260005	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304710	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv518134	chr19:51750238-51765953	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv1060026	chr19:51751123-51773175	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51757400-51761000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr19:51757600-51761200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr19:51759400-51761400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr19:51759400-51761400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:51759400-51762800	Enhancers	Primary hematopoietic stem cells	blood
6	chr19:51759400-51762800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr19:51759600-51761600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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