Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:81888216-81888750	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000242009	TF binding region

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11711024	0.89[EUR][1000 genomes]
rs11711331	0.82[EUR][1000 genomes]
rs11915042	0.85[EUR][1000 genomes]
rs12152272	0.89[EUR][1000 genomes]
rs12495343	0.84[ASN][1000 genomes]
rs12635671	0.82[ASN][1000 genomes]
rs13062741	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13073613	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13075250	0.86[EUR][1000 genomes]
rs13079104	0.89[EUR][1000 genomes]
rs13088000	0.85[EUR][1000 genomes]
rs13091492	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13092157	0.84[EUR][1000 genomes]
rs1464790	0.82[EUR][1000 genomes]
rs1464791	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1524557	0.88[EUR][1000 genomes]
rs1851930	0.83[EUR][1000 genomes]
rs2691093	0.86[ASN][1000 genomes]
rs4622918	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6548773	0.85[EUR][1000 genomes]
rs6765917	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7631052	0.82[EUR][1000 genomes]
rs7641973	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7648245	0.89[EUR][1000 genomes]
rs9817181	0.83[EUR][1000 genomes]
rs9820349	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9826270	0.85[EUR][1000 genomes]
rs9841087	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9842330	0.81[EUR][1000 genomes]
rs9854004	0.82[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	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2873054	GBE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81885200-81889000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:81885400-81889600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:81885800-81888400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:81886600-81889400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:81886600-81891600	Enhancers	Dnd41	blood
6	chr3:81887400-81888400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:81887400-81888800	Enhancers	GM12878-XiMat	blood
8	chr3:81887600-81889400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:81887800-81888400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:81887800-81888800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:81887800-81889400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:81888000-81888800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:81888000-81889400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr3:81888200-81888600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:81888200-81889400	Enhancers	iPS-20b Cell Line	embryonic stem cell

Quick Search: