Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:55136248..55139104-chr2:55277654..55280069,2	K562	blood:
2	chr2:55135110..55137315-chr2:55274820..55277436,2	MCF-7	breast:
3	chr2:55135774..55137810-chr2:55139931..55142495,2	K562	blood:
4	chr2:55131952..55133594-chr2:55135173..55137176,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

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

rs_ID	r²[population]
rs10196667	0.97[ASN][1000 genomes]
rs10746530	0.97[ASN][1000 genomes]
rs11125551	0.90[ASN][1000 genomes]
rs11904457	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12475185	1.00[ASN][1000 genomes]
rs13008105	1.00[ASN][1000 genomes]
rs13020490	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13026576	0.97[ASN][1000 genomes]
rs17418111	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2304685	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36024305	0.93[ASN][1000 genomes]
rs36063689	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233956	0.97[ASN][1000 genomes]
rs4504034	0.97[ASN][1000 genomes]
rs4525735	0.97[ASN][1000 genomes]
rs4671233	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4671998	0.97[ASN][1000 genomes]
rs55777421	0.97[ASN][1000 genomes]
rs6545462	0.93[ASN][1000 genomes]
rs67721747	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13028800	RTN4	cis	Thyroid	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55132000-55140600	Weak transcription	Esophagus	oesophagus
3	chr2:55134000-55153800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:55134200-55147600	Weak transcription	Fetal Brain Female	brain
5	chr2:55134400-55153600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:55135200-55137800	Enhancers	NHDF-Ad	bronchial
7	chr2:55135600-55137000	Enhancers	NHLF	lung
8	chr2:55135600-55138000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:55136200-55140400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:55136200-55145600	Weak transcription	HepG2	liver
11	chr2:55136600-55137600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:55136800-55140400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:55136800-55142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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