Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86905357..86907939-chr1:86912947..86914769,2	K562	blood:

Variant related genes	Relation type
ENSG00000137975	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11161808	0.81[ASN][1000 genomes]
rs12023799	0.83[ASN][1000 genomes]
rs12037028	0.81[ASN][1000 genomes]
rs12038844	0.81[ASN][1000 genomes]
rs12043873	0.81[ASN][1000 genomes]
rs12747430	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36096788	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3737671	0.89[ASN][1000 genomes]
rs3765984	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765987	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820038	0.97[ASN][1000 genomes]
rs3820041	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656103	0.97[ASN][1000 genomes]
rs55812833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55857117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56187142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744303	1.00[AFR][1000 genomes]
rs5744321	1.00[AFR][1000 genomes]
rs5744349	1.00[AFR][1000 genomes]
rs57955693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58658794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59775624	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86896600-86914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:86897200-86922600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:86897200-86922800	Strong transcription	HMEC	breast
4	chr1:86897400-86906200	Strong transcription	NHEK	skin
5	chr1:86897400-86916000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:86902000-86913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:86902200-86905800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:86902200-86906800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:86902200-86907200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:86902400-86907000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:86902400-86907400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:86903400-86926800	Weak transcription	Esophagus	oesophagus

Quick Search: