Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:51422213..51424368-chr12:51428694..51432123,3	MCF-7	breast:
2	chr12:51418394..51420286-chr12:51428760..51431062,2	MCF-7	breast:
3	chr12:51429499..51431522-chr12:51440148..51442114,3	MCF-7	breast:
4	chr12:51418451..51421212-chr12:51428842..51430957,2	MCF-7	breast:
5	chr12:51429769..51432512-chr12:51476102..51478161,2	K562	blood:

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

rs_ID	r²[population]
rs1096028	1.00[EUR][1000 genomes]
rs1096029	1.00[EUR][1000 genomes]
rs11169705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11169713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11832566	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833478	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12307173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316220	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1595597	1.00[EUR][1000 genomes]
rs1642998	1.00[EUR][1000 genomes]
rs2554869	1.00[EUR][1000 genomes]
rs7978782	1.00[EUR][1000 genomes]
rs829116	1.00[EUR][1000 genomes]
rs829117	1.00[EUR][1000 genomes]
rs829118	1.00[EUR][1000 genomes]
rs829119	1.00[EUR][1000 genomes]
rs829121	1.00[EUR][1000 genomes]
rs829136	1.00[EUR][1000 genomes]
rs829137	1.00[EUR][1000 genomes]
rs829138	1.00[EUR][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:5 , 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	chr12:51430200-51430600	Enhancers	Duodenum Mucosa	Duodenum
4	chr12:51430400-51431400	Enhancers	HepG2	liver
5	chr12:51430400-51434800	Weak transcription	Fetal Intestine Large	intestine

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