Variant report

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125308301-125309127	PFSK-1	brain:	n/a	n/a
2	CEBPB	chr8:125308743-125309196	A549	lung:	n/a	n/a
3	CEBPB	chr8:125308754-125309085	A549	lung:	n/a	n/a
4	POLR2A	chr8:125308573-125309123	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125307378..125309336-chr8:125311046..125312762,2	K562	blood:
2	chr8:125300574..125303512-chr8:125308098..125310912,2	K562	blood:
3	chr8:125307762..125311080-chr8:125313612..125318794,4	K562	blood:
4	chr8:125307836..125309390-chr8:125310949..125312546,2	K562	blood:
5	chr8:125291323..125293051-chr8:125307656..125309240,2	K562	blood:
6	chr8:125303996..125306614-chr8:125309015..125311181,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237586	TF binding region

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10110968	1.00[CEU][hapmap];0.81[MKK][hapmap];0.81[EUR][1000 genomes]
rs10464864	1.00[CEU][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11985656	0.86[MEX][hapmap]
rs12674575	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4257990	0.81[EUR][1000 genomes]
rs4286934	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4317549	0.90[MKK][hapmap]
rs4421336	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4512364	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4871486	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871488	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6985308	1.00[CEU][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap]
rs6991465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002456	1.00[CEU][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs7010910	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7819902	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7832694	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8181004	0.80[AFR][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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6997326	TRMT12	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125301400-125329800	Weak transcription	HSMMtube	muscle
2	chr8:125304400-125313600	Weak transcription	Left Ventricle	heart
3	chr8:125304600-125317800	Weak transcription	Fetal Heart	heart
4	chr8:125306200-125328000	Weak transcription	A549	lung

Quick Search: