Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70994251..70996830-chr1:71512472..71514167,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050628	Chromatin interaction

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12043275	0.90[EUR][1000 genomes]
rs12049613	0.89[EUR][1000 genomes]
rs2651241	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2651242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[ASN][1000 genomes]
rs2651243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2651245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2651246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2807905	0.89[JPT][hapmap]
rs3121982	0.91[EUR][1000 genomes]
rs4129005	0.85[EUR][1000 genomes]
rs71500609	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7540783	0.91[EUR][1000 genomes]
rs7552319	0.91[EUR][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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Inflammatory bowel disease	23128233	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2651244	PTGER3	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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