Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr14:38476419-38476566	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000258696	TF binding region

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10498333	0.93[ASN][1000 genomes]
rs1113091	0.85[CHB][hapmap]
rs11844176	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11845696	0.86[CHB][hapmap]
rs11846034	0.86[CHB][hapmap]
rs11846599	0.90[ASN][1000 genomes]
rs11848653	0.89[ASN][1000 genomes]
rs11848963	0.86[CHB][hapmap]
rs11849824	0.86[CHB][hapmap]
rs17107371	0.86[CHB][hapmap]
rs17107373	0.86[CHB][hapmap]
rs17107420	0.93[ASN][1000 genomes]
rs17107427	0.88[ASN][1000 genomes]
rs17107430	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs2022751	0.86[CHB][hapmap]
rs2211212	0.88[ASN][1000 genomes]
rs2211213	0.88[ASN][1000 genomes]
rs7142116	0.86[CHB][hapmap]
rs7157647	0.86[CHB][hapmap]
rs7158399	0.85[CHB][hapmap]
rs8015486	0.86[CHB][hapmap]
rs8015685	0.86[CHB][hapmap]
rs8016555	0.86[CHB][hapmap]

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	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	nsv564387	chr14:38357864-38563111	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv901651	chr14:38419360-38556242	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11850193	NUP93	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38474000-38478600	Weak transcription	H1 Cell Line	embryonic stem cell

Quick Search: