Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr19:39542804-39543617	A549	lung:	n/a	n/a
2	TCF12	chr19:39542690-39543825	A549	lung:	n/a	n/a
3	CTCF	chr19:39542689-39543896	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000251709	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1268251	0.83[EUR][1000 genomes]
rs1672647	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1672649	0.83[EUR][1000 genomes]
rs2012598	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs473729	0.83[EUR][1000 genomes]
rs479001	0.81[EUR][1000 genomes]
rs4802012	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs533573	0.81[EUR][1000 genomes]
rs536244	0.81[EUR][1000 genomes]
rs600128	0.84[ASN][1000 genomes]
rs601966	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs603268	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs629685	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs631952	0.83[EUR][1000 genomes]
rs650450	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs657046	0.86[AFR][1000 genomes]
rs672576	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7254745	0.81[EUR][1000 genomes]
rs73043568	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8103036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2760517	chr19:39530012-39544234	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	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
4	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:17 , 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	chr19:39542800-39544000	Enhancers	HepG2	liver
4	chr19:39543000-39543800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:39543000-39544400	Enhancers	A549	lung
6	chr19:39543000-39544800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:39543000-39544800	Enhancers	Brain Cingulate Gyrus	brain
8	chr19:39543000-39545200	Enhancers	Brain Anterior Caudate	brain
9	chr19:39543000-39545200	Enhancers	Fetal Intestine Small	intestine
10	chr19:39543000-39545600	Enhancers	Stomach Mucosa	stomach
11	chr19:39543200-39544800	Enhancers	Brain Angular Gyrus	brain
12	chr19:39543200-39544800	Enhancers	Brain Hippocampus Middle	brain
13	chr19:39543200-39544800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:39543200-39545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:39543200-39545200	Enhancers	Brain Substantia Nigra	brain
16	chr19:39543400-39544800	Enhancers	Duodenum Mucosa	Duodenum
17	chr19:39543600-39544200	Enhancers	Brain Inferior Temporal Lobe	brain

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