Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:39544534-39544734	HepG2	liver:	n/a	n/a
2	HNF4A	chr19:39544303-39544784	HepG2	liver:	n/a	chr19:39544543-39544558
3	BHLHE40	chr19:39544349-39544740	HepG2	liver:	n/a	n/a
4	HNF4A	chr19:39544317-39544735	HepG2	liver:	n/a	chr19:39544543-39544558
5	HNF4G	chr19:39544357-39544781	HepG2	liver:	n/a	chr19:39544542-39544557
6	FOXA1	chr19:39544367-39544757	HepG2	liver:	n/a	n/a
7	HNF4G	chr19:39544373-39544762	HepG2	liver:	n/a	chr19:39544542-39544557
8	FOXA2	chr19:39544365-39544795	HepG2	liver:	n/a	n/a
9	FOXA1	chr19:39544326-39544808	HepG2	liver:	n/a	n/a
10	HDAC2	chr19:39544336-39544799	HepG2	liver:	n/a	n/a
11	USF1	chr19:39544435-39544776	A549	lung:	n/a	chr19:39544576-39544587
12	HNF4A	chr19:39544308-39544776	HepG2	liver:	n/a	chr19:39544543-39544558
13	USF1	chr19:39544433-39544731	HepG2	liver:	n/a	chr19:39544576-39544587
14	FOXA1	chr19:39544408-39544737	HepG2	liver:	n/a	n/a
15	MAZ	chr19:39544352-39544714	HepG2	liver:	n/a	n/a
16	SP1	chr19:39544282-39544798	HepG2	liver:	n/a	n/a
17	FOXA1	chr19:39544364-39544819	HepG2	liver:	n/a	n/a
18	EP300	chr19:39544392-39544793	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39543748..39546255-chr19:39599767..39602313,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251709	TF binding region

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1672647	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1672649	0.84[AMR][1000 genomes]
rs2012598	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802012	0.85[ASN][1000 genomes]
rs600128	0.82[ASN][1000 genomes]
rs601966	0.98[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs603268	0.98[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs629685	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650450	0.86[ASN][1000 genomes]
rs7254745	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73043568	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103036	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103319	0.87[EUR][1000 genomes];0.98[ASN][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	nsv963126	chr19:39521120-39552490	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39541200-39546400	Weak transcription	Right Atrium	heart
2	chr19:39542200-39546600	Enhancers	Fetal Intestine Large	intestine
3	chr19:39543000-39544800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:39543000-39544800	Enhancers	Brain Cingulate Gyrus	brain
5	chr19:39543000-39545200	Enhancers	Brain Anterior Caudate	brain
6	chr19:39543000-39545200	Enhancers	Fetal Intestine Small	intestine
7	chr19:39543000-39545600	Enhancers	Stomach Mucosa	stomach
8	chr19:39543200-39544800	Enhancers	Brain Angular Gyrus	brain
9	chr19:39543200-39544800	Enhancers	Brain Hippocampus Middle	brain
10	chr19:39543200-39544800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:39543200-39545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:39543200-39545200	Enhancers	Brain Substantia Nigra	brain
13	chr19:39543400-39544800	Enhancers	Duodenum Mucosa	Duodenum
14	chr19:39544000-39544800	Flanking Active TSS	HepG2	liver
15	chr19:39544400-39544800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:39544400-39544800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr19:39544400-39544800	Enhancers	Liver	Liver
18	chr19:39544400-39544800	Enhancers	Gastric	stomach
19	chr19:39544400-39545200	Weak transcription	A549	lung
20	chr19:39544600-39545200	Enhancers	Brain Inferior Temporal Lobe	brain

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