Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51422213..51424368-chr12:51428694..51432123,3	MCF-7	breast:
2	chr12:51425185..51426824-chr12:51428471..51430298,2	K562	blood:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11832162	1.00[AMR][1000 genomes]
rs11832863	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834248	1.00[AMR][1000 genomes]
rs11834310	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11837720	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308376	1.00[AMR][1000 genomes]
rs13378041	1.00[AMR][1000 genomes]
rs57268497	1.00[AMR][1000 genomes]
rs59268299	1.00[AMR][1000 genomes]
rs59487164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60167482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60725885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300028	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308084	1.00[AMR][1000 genomes]
rs73310015	1.00[AMR][1000 genomes]
rs73310018	1.00[AMR][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51422800-51432000	Weak transcription	Stomach Mucosa	stomach
2	chr12:51423800-51431800	Weak transcription	Hela-S3	cervix
3	chr12:51427600-51429200	Weak transcription	HepG2	liver
4	chr12:51428600-51429600	Weak transcription	Fetal Intestine Small	intestine

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