Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr18:11751178-11752023	H1-hESC	embryonic stem cell:	n/a	chr18:11751452-11751461 chr18:11751854-11751864
2	E2F6	chr18:11751158-11751816	H1-hESC	embryonic stem cell:	n/a	chr18:11751307-11751322
3	E2F6	chr18:11751164-11752869	H1-hESC	embryonic stem cell:	n/a	chr18:11752011-11752020 chr18:11751307-11751322

Variant related genes	Relation type
GNAL	TF binding region

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

rs_ID	r²[population]
rs16973028	0.97[ASN][1000 genomes]
rs16976623	0.97[ASN][1000 genomes]
rs28468616	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2903236	0.87[ASN][1000 genomes]
rs4547404	0.97[ASN][1000 genomes]
rs56069280	0.81[ASN][1000 genomes]
rs60025683	0.90[ASN][1000 genomes]
rs61184045	0.97[ASN][1000 genomes]
rs6505673	0.90[ASN][1000 genomes]
rs7227421	0.97[ASN][1000 genomes]
rs7234970	0.90[ASN][1000 genomes]
rs73944252	0.97[ASN][1000 genomes]
rs73946312	0.87[ASN][1000 genomes]
rs73946313	0.87[ASN][1000 genomes]
rs73947607	0.97[ASN][1000 genomes]
rs8084370	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8084625	0.84[ASN][1000 genomes]
rs8085082	0.90[ASN][1000 genomes]
rs9303745	0.97[ASN][1000 genomes]
rs9947295	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9954406	0.82[AFR][1000 genomes]
rs9957311	0.82[AFR][1000 genomes]
rs9964761	0.97[ASN][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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11747600-11751200	Weak transcription	Brain Anterior Caudate	brain
2	chr18:11750400-11751200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:11750600-11751400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr18:11751000-11751400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:11751000-11751600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr18:11751000-11751800	Enhancers	Gastric	stomach
7	chr18:11751000-11753200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

Quick Search: