Variant report

No.	Distal block	Cell Line	Cell type
1	chr20:52824433..52826440-chr20:52877518..52879448,2	MCF-7	breast:
2	chr20:52874919..52877914-chr20:53265478..53267845,2	MCF-7	breast:
3	chr20:52844235..52847493-chr20:52876743..52879429,3	MCF-7	breast:
4	chr20:52850887..52853833-chr20:52876658..52879639,2	MCF-7	breast:
5	chr20:52877688..52880312-chr20:52960280..52962088,2	MCF-7	breast:
6	chr20:52876447..52879251-chr20:52932315..52933994,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101132	Chromatin interaction

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

rs_ID	r²[population]
rs1293129	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1293131	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1477727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17312067	0.95[EUR][1000 genomes]
rs28654312	0.82[ASN][1000 genomes]
rs4535116	0.82[ASN][1000 genomes]
rs56894192	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58311082	0.93[EUR][1000 genomes]
rs59112455	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59763311	0.93[EUR][1000 genomes]
rs59783244	0.83[EUR][1000 genomes]
rs6013952	0.82[ASN][1000 genomes]
rs6023094	0.82[ASN][1000 genomes]
rs6023100	0.82[ASN][1000 genomes]
rs6097873	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6097892	0.82[ASN][1000 genomes]
rs6097894	0.82[ASN][1000 genomes]
rs6123370	1.00[ASN][1000 genomes]
rs6127150	0.85[ASN][1000 genomes]
rs6127151	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6127164	0.82[ASN][1000 genomes]
rs6512949	0.97[EUR][1000 genomes]
rs73914309	0.95[EUR][1000 genomes]
rs73914345	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6097877	CREB3L2	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52872800-52883800	Weak transcription	Pancreas	Pancrea
2	chr20:52874000-52879200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr20:52874200-52879400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr20:52874200-52883600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr20:52874200-52884000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr20:52874400-52879400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:52874400-52879600	Weak transcription	Osteobl	bone

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