Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41384285..41386457-chr12:41393196..41395790,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10506181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10879452	0.84[ASN][1000 genomes]
rs11832384	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1372540	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1434686	0.83[ASN][1000 genomes]
rs1442191	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1442194	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128925	0.88[CHD][hapmap];0.94[MEX][hapmap]
rs17128977	0.94[AMR][1000 genomes]
rs17128997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1797980	0.83[ASN][1000 genomes]
rs1797982	0.83[ASN][1000 genomes]
rs448780	0.83[ASN][1000 genomes]
rs55927654	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55994689	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56333303	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73111395	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73116958	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73116975	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73116987	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1042296	chr12:41372512-41401840	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41374600-41404800	Weak transcription	Brain Angular Gyrus	brain
2	chr12:41374800-41386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:41377400-41386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:41383400-41386400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:41383800-41388400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:41384600-41389400	Weak transcription	Colon Smooth Muscle	Colon

Quick Search: