Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:87043141-87044798	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:87043812-87044091	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:87043872-87044061	K562	blood:	n/a	n/a
4	POLR2A	chr11:87035892-87046208	K562	blood:	n/a	n/a

Variant related genes	Relation type
PSMA2P1	TF binding region

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

rs_ID	r²[population]
rs10047408	1.00[AMR][1000 genomes]
rs11235098	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235113	1.00[AMR][1000 genomes]
rs11235114	1.00[AMR][1000 genomes]
rs11235115	1.00[AMR][1000 genomes]
rs11235116	1.00[AMR][1000 genomes]
rs12270666	1.00[AMR][1000 genomes]
rs12275018	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276332	1.00[AMR][1000 genomes]
rs12282494	1.00[AMR][1000 genomes]
rs12283625	0.95[AFR][1000 genomes]
rs12287172	1.00[AMR][1000 genomes]
rs12287886	1.00[AMR][1000 genomes]
rs12288952	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295935	1.00[AMR][1000 genomes]
rs17150123	1.00[AMR][1000 genomes]
rs3897610	1.00[AMR][1000 genomes]
rs9804477	1.00[AMR][1000 genomes]
rs9804479	1.00[AMR][1000 genomes]
rs9804554	1.00[AMR][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	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr11:87012800-87044200	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:87014400-87047400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:87033600-87044200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:87036800-87046400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:87041600-87046600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:87042800-87047800	Weak transcription	Aorta	Aorta

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