Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51774122-51774771	NB4	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000268318	TF binding region

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10408324	0.97[EUR][1000 genomes]
rs10416845	0.95[EUR][1000 genomes]
rs10425711	0.91[EUR][1000 genomes]
rs12608738	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972826	0.97[EUR][1000 genomes]
rs12972888	0.96[EUR][1000 genomes]
rs12972903	0.96[EUR][1000 genomes]
rs12975233	0.95[EUR][1000 genomes]
rs1399838	0.95[EUR][1000 genomes]
rs17716016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536511	0.96[EUR][1000 genomes]
rs2898694	0.95[EUR][1000 genomes]
rs34589735	0.97[EUR][1000 genomes]
rs58738030	0.96[EUR][1000 genomes]
rs7249149	0.97[EUR][1000 genomes]
rs7249595	0.97[EUR][1000 genomes]
rs7249916	0.97[EUR][1000 genomes]
rs7258998	0.95[EUR][1000 genomes]
rs8110859	0.96[EUR][1000 genomes]
rs8111074	0.96[EUR][1000 genomes]
rs8111217	0.96[EUR][1000 genomes]
rs8111393	0.96[EUR][1000 genomes]
rs8111753	0.96[EUR][1000 genomes]
rs8113446	0.95[EUR][1000 genomes]
rs8113548	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 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	chr19:51770400-51777400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:51773400-51775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:51773800-51774400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:51773800-51776400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr19:51774000-51774600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr19:51774000-51774600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:51774000-51774600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:51774000-51776000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

Quick Search: