Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:49253798..49263932-chr12:49272568..49285670,39	MCF-7	breast:
2	chr12:49253541..49263542-chr12:49271204..49284916,35	MCF-7	breast:
3	chr12:49273861..49275618-chr12:49278332..49280043,2	MCF-7	breast:
4	chr12:49270319..49273192-chr12:49274654..49277123,3	MCF-7	breast:
5	chr12:49244448..49248825-chr12:49273797..49278851,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172602	Chromatin interaction
ENSG00000174243	Chromatin interaction

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

rs_ID	r²[population]
rs10783287	0.91[ASN][1000 genomes]
rs10875883	0.97[ASN][1000 genomes]
rs11168773	0.98[ASN][1000 genomes]
rs12369505	0.99[ASN][1000 genomes]
rs2446985	0.89[ASN][1000 genomes]
rs2446986	0.93[ASN][1000 genomes]
rs2446987	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2446999	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2447001	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2453476	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926806	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2934998	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3958875	0.94[ASN][1000 genomes]
rs4760647	0.91[ASN][1000 genomes]
rs833476	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs833478	0.97[ASN][1000 genomes]
rs833479	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs833483	0.94[ASN][1000 genomes]
rs833484	0.94[ASN][1000 genomes]
rs833820	0.81[EUR][1000 genomes]
rs833821	0.81[EUR][1000 genomes]
rs9788029	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469373	chr12:49256792-49285390	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
2	nsv558832	chr12:49256792-49285390	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
3	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49271400-49275000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:49271400-49278200	Enhancers	Liver	Liver
3	chr12:49272800-49275200	Weak transcription	Fetal Intestine Large	intestine
4	chr12:49272800-49275200	Weak transcription	Fetal Intestine Small	intestine
5	chr12:49273800-49276800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:49274000-49275600	Enhancers	A549	lung
7	chr12:49274000-49278800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:49274400-49275200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:49274600-49275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:49274800-49275800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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