Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:96019115..96020705-chr8:96036966..96039479,2	K562	blood:

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction

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

rs_ID	r²[population]
rs10098888	0.97[EUR][1000 genomes]
rs10105495	0.84[AMR][1000 genomes]
rs10112501	0.97[EUR][1000 genomes]
rs1563082	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1574312	0.97[EUR][1000 genomes]
rs1962466	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2599707	0.82[ASW][hapmap]
rs2599716	0.81[AMR][1000 genomes]
rs2599718	0.84[AMR][1000 genomes]
rs2599719	0.84[AMR][1000 genomes]
rs2599723	1.00[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes]
rs2678821	0.82[CEU][hapmap]
rs2678832	0.84[AMR][1000 genomes]
rs2678836	0.91[ASW][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes]
rs28456359	0.97[EUR][1000 genomes]
rs2945553	0.84[AMR][1000 genomes]
rs55865568	0.97[EUR][1000 genomes]
rs62523084	1.00[EUR][1000 genomes]
rs62523085	0.97[EUR][1000 genomes]
rs62523111	0.83[AMR][1000 genomes];0.90[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv524876	chr8:96000919-96027306	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2459966	CDH17	cis	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
2	chr8:95987000-96019600	Weak transcription	Lung	lung
3	chr8:96001200-96023400	Weak transcription	Liver	Liver
4	chr8:96003200-96032600	Weak transcription	Gastric	stomach
5	chr8:96009000-96036400	Weak transcription	Spleen	Spleen
6	chr8:96009800-96023000	Weak transcription	Adipose Nuclei	Adipose
7	chr8:96014600-96021600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:96015600-96020400	Enhancers	HepG2	liver
9	chr8:96015600-96021600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:96016000-96021600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:96016200-96021600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:96016400-96021400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:96016400-96021600	Weak transcription	Brain Germinal Matrix	brain
14	chr8:96018200-96020200	Enhancers	Pancreas	Pancrea
15	chr8:96018400-96023000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:96018800-96021600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr8:96019200-96019600	Enhancers	A549	lung

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