Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:169564814-169565593	ECC-1	luminal epithelium:	n/a	n/a
2	REST	chr1:169564967-169565572	PANC-1	pancreas:	n/a	n/a
3	REST	chr1:169564719-169565709	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr1:169564856-169565584	MCF-7	breast:	n/a	n/a
5	REST	chr1:169564788-169565665	ECC-1	luminal epithelium:	n/a	n/a
6	REST	chr1:169564521-169565730	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169564132..169566509-chr1:169578988..169581892,2	K562	blood:

Variant related genes	Relation type
SELP	TF binding region

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

rs_ID	r²[population]
rs10753787	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10800457	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1997664	0.93[ASN][1000 genomes]
rs2142760	0.93[ASN][1000 genomes]
rs2223303	0.81[ASN][1000 genomes]
rs2420378	0.84[ASN][1000 genomes]
rs3753305	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3766126	0.81[ASN][1000 genomes]
rs3917744	0.92[AFR][1000 genomes]
rs3917768	0.93[ASN][1000 genomes]
rs3917775	0.93[ASN][1000 genomes]
rs3917777	0.84[ASN][1000 genomes]
rs3917782	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917783	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917786	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6127	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427202	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6670678	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7540556	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs760694	0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169558800-169570000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:169559200-169570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:169564000-169570200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:169564400-169569800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:169565000-169566000	Enhancers	Liver	Liver
6	chr1:169565200-169565600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:169565200-169566600	Enhancers	Adipose Nuclei	Adipose
8	chr1:169565200-169570400	Weak transcription	GM12878-XiMat	blood
9	chr1:169565400-169581400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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