Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170483969..170486161-chr1:170489073..170491047,2	K562	blood:
2	chr1:170481966..170484499-chr1:170501498..170503077,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231407	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10919407	0.82[ASN][1000 genomes]
rs10919422	0.92[ASN][1000 genomes]
rs11583564	0.92[ASN][1000 genomes]
rs11590710	0.85[ASN][1000 genomes]
rs11806866	0.85[ASN][1000 genomes]
rs12729774	0.92[ASN][1000 genomes]
rs12737862	0.82[ASN][1000 genomes]
rs12747498	0.88[ASN][1000 genomes]
rs12751882	0.82[ASN][1000 genomes]
rs12755330	0.92[ASN][1000 genomes]
rs16863369	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1855220	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34593046	0.85[ASN][1000 genomes]
rs34597697	0.82[ASN][1000 genomes]
rs34621734	0.92[ASN][1000 genomes]
rs35299255	0.88[ASN][1000 genomes]
rs35329498	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35564609	0.92[ASN][1000 genomes]
rs4488075	0.88[ASN][1000 genomes]
rs61824337	0.85[ASN][1000 genomes]
rs61824349	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61824356	0.88[ASN][1000 genomes]
rs61824357	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6668898	0.85[ASN][1000 genomes]
rs67243697	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7515690	0.92[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	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35581791	GORAB	cis	Artery Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170482600-170490600	Weak transcription	Psoas Muscle	Psoas
2	chr1:170483400-170484800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

Quick Search: