Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44379335..44381377-chr12:44388429..44391186,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10736018	0.90[AMR][1000 genomes]
rs10748388	0.88[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.90[ASN][1000 genomes]
rs10748389	0.90[ASN][1000 genomes]
rs10785492	0.90[AMR][1000 genomes]
rs11182385	0.84[TSI][hapmap]
rs1565620	0.84[TSI][hapmap]
rs17093973	0.84[TSI][hapmap]
rs17094007	0.89[TSI][hapmap]
rs1881928	0.88[CHB][hapmap];0.90[ASN][1000 genomes]
rs2407788	0.90[AMR][1000 genomes]
rs2897765	0.88[CHB][hapmap];0.90[ASN][1000 genomes]
rs4768058	0.88[CHB][hapmap];0.90[ASN][1000 genomes]
rs4768060	0.88[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.90[ASN][1000 genomes]
rs55996795	0.80[ASN][1000 genomes]
rs6582493	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs7136217	0.84[TSI][hapmap]
rs7296132	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297277	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7301406	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303909	0.84[TSI][hapmap]
rs7312422	0.84[AMR][1000 genomes]
rs9919676	1.00[JPT][hapmap]
rs9919742	0.89[TSI][hapmap]

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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44364600-44393200	Weak transcription	Small Intestine	intestine
3	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
4	chr12:44383600-44394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:44384400-44399600	Weak transcription	Fetal Intestine Small	intestine
6	chr12:44386800-44394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:44387400-44399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:44387600-44399400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:44388800-44390000	Enhancers	HepG2	liver

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