Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86782319..86784371-chr1:86788176..86791110,3	K562	blood:

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

rs_ID	r²[population]
rs12022446	1.00[ASN][1000 genomes]
rs12037391	0.98[ASN][1000 genomes]
rs12038144	1.00[ASN][1000 genomes]
rs12044970	0.98[ASN][1000 genomes]
rs12045465	0.98[ASN][1000 genomes]
rs12046894	0.98[ASN][1000 genomes]
rs12725661	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12741127	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1334141	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17099731	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2225669	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34101562	0.95[EUR][1000 genomes]
rs34770429	0.93[EUR][1000 genomes]
rs35097112	0.95[EUR][1000 genomes]
rs35340918	0.95[EUR][1000 genomes]
rs35462810	0.91[EUR][1000 genomes]
rs35846067	0.95[EUR][1000 genomes]
rs36036063	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs384122	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs418289	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs433577	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4592241	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs569119	0.93[EUR][1000 genomes]
rs9433456	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[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	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86788400-86791200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:86789600-86791400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:86789800-86791400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:86790400-86791600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:86790400-86792200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:86790400-86793000	Weak transcription	Fetal Lung	lung
7	chr1:86790600-86791600	Weak transcription	Monocytes-CD14+_RO01746	blood

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