Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29969333..29971834-chr12:29973020..29974613,2	MCF-7	breast:
2	chr12:29960264..29962976-chr12:29969442..29971898,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10843534	0.81[AMR][1000 genomes]
rs11050519	0.81[AMR][1000 genomes]
rs11050525	0.81[AMR][1000 genomes]
rs11050528	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs12812577	0.81[AMR][1000 genomes]
rs12813154	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12817638	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12828727	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs188549	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2200275	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2220131	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs302310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302360	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs416697	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs444711	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs614490	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7132449	0.81[AMR][1000 genomes]
rs7133117	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73069892	0.84[ASN][1000 genomes]
rs73071610	0.82[ASN][1000 genomes]
rs7962909	0.81[AMR][1000 genomes]
rs7979574	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29970600-29972200	Enhancers	Fetal Muscle Leg	muscle
2	chr12:29971200-29973800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:29971400-29972000	Enhancers	Left Ventricle	heart
4	chr12:29971400-29972200	Enhancers	Right Ventricle	heart
5	chr12:29971600-29972000	Enhancers	Psoas Muscle	Psoas
6	chr12:29971600-29972200	Enhancers	Right Atrium	heart
7	chr12:29971600-29972600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:29971600-29972600	Enhancers	NHDF-Ad	bronchial

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