Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:51751760-51751910	GM06990	blood:	n/a	n/a
2	RUNX3	chr19:51751877-51752271	GM12878	blood:	n/a	n/a
3	CTCF	chr19:51751800-51751950	MCF-7	breast:	n/a	n/a
4	CTCF	chr19:51751820-51751970	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51747857..51749540-chr19:51750009..51752859,2	K562	blood:

Variant related genes	Relation type
SIGLECL1	TF binding region

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

rs_ID	r²[population]
rs10404032	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407368	1.00[EUR][1000 genomes]
rs10407913	1.00[EUR][1000 genomes]
rs10408172	1.00[EUR][1000 genomes]
rs10414234	1.00[EUR][1000 genomes]
rs10416077	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416406	1.00[EUR][1000 genomes]
rs10418346	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425668	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882250	0.83[AMR][1000 genomes]
rs13344455	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16982575	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16982584	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2063825	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28625921	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28765496	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4330015	1.00[EUR][1000 genomes]
rs55932809	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56663899	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57490406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58981829	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509522	1.00[EUR][1000 genomes]
rs7260005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304710	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv519982	chr19:51750238-51758127	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	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
5	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51745400-51753200	Enhancers	Primary hematopoietic stem cells	blood
2	chr19:51745800-51754000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:51749400-51753400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:51749800-51753400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr19:51749800-51753400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:51750600-51754000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr19:51751400-51752800	Enhancers	Fetal Thymus	thymus
8	chr19:51751600-51752200	Enhancers	GM12878-XiMat	blood
9	chr19:51751600-51752400	Enhancers	Thymus	Thymus

Quick Search: