Variant report

Variant	rs11392694
Chromosome Location	chr12:41580288-41580289
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:41580244-41580418	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PDZRN4	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11830850	0.90[AFR][1000 genomes]
rs11835868	0.93[AFR][1000 genomes]
rs1431120	0.82[AFR][1000 genomes]
rs17129118	0.97[AFR][1000 genomes]
rs17129138	0.97[AFR][1000 genomes]
rs17129140	0.90[AFR][1000 genomes]
rs57259770	0.92[AFR][1000 genomes]
rs58479177	0.90[AFR][1000 genomes]
rs58686550	0.88[AFR][1000 genomes]
rs58695957	0.90[AFR][1000 genomes]
rs59215090	0.88[AFR][1000 genomes]
rs59820351	0.93[AFR][1000 genomes]
rs61587111	0.80[EUR][1000 genomes]
rs73117069	1.00[AFR][1000 genomes]
rs73117071	1.00[AFR][1000 genomes]
rs73117077	0.80[EUR][1000 genomes]
rs73117080	0.80[EUR][1000 genomes]
rs73119031	0.93[AFR][1000 genomes]
rs73119042	0.95[AFR][1000 genomes]
rs73119065	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1048124	chr12:41499221-41585315	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
5	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	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	chr12:41578600-41580400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:41578800-41581400	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:41579800-41580400	Active TSS	Stomach Smooth Muscle	stomach
4	chr12:41579800-41582000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:41580200-41580400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
6	chr12:41580200-41581000	Enhancers	Colon Smooth Muscle	Colon

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