Variant report

Variant	rs791620
Chromosome Location	chr7:127881143-127881144
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:127881098-127881463	K562	blood:	n/a	chr7:127881276-127881285 chr7:127881276-127881285 chr7:127881274-127881287 chr7:127881276-127881285 chr7:127881276-127881285
2	CEBPB	chr7:127881118-127881395	IMR90	lung:	n/a	chr7:127881276-127881285 chr7:127881276-127881285 chr7:127881274-127881287 chr7:127881276-127881285 chr7:127881276-127881285
3	CEBPB	chr7:127880993-127881451	HepG2	liver:	n/a	chr7:127881276-127881285 chr7:127881276-127881285 chr7:127881274-127881287 chr7:127881276-127881285 chr7:127881276-127881285
4	CEBPB	chr7:127881052-127881500	A549	lung:	n/a	chr7:127881276-127881285 chr7:127881276-127881285 chr7:127881274-127881287 chr7:127881276-127881285 chr7:127881276-127881285
5	CEBPB	chr7:127881115-127881383	K562	blood:	n/a	chr7:127881276-127881285 chr7:127881276-127881285 chr7:127881274-127881287 chr7:127881276-127881285 chr7:127881276-127881285

Variant related genes	Relation type
LEP	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10243710	0.86[EUR][1000 genomes]
rs10264361	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10276311	0.87[EUR][1000 genomes]
rs1376349	0.89[EUR][1000 genomes]
rs2021808	0.89[EUR][1000 genomes]
rs2060713	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2122627	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2167271	1.00[EUR][1000 genomes]
rs28954080	1.00[EUR][1000 genomes]
rs28954101	1.00[EUR][1000 genomes]
rs4236625	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4731424	0.88[EUR][1000 genomes]
rs4731427	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6976458	0.82[EUR][1000 genomes]
rs72550734	1.00[ASN][1000 genomes]
rs7788818	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7795794	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs791603	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs791604	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs791606	0.84[EUR][1000 genomes]
rs791607	0.86[EUR][1000 genomes]
rs791608	0.86[EUR][1000 genomes]
rs791609	0.86[EUR][1000 genomes]
rs791616	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs791617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv429811	chr7:127857891-127889049	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127878000-127881600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
2	chr7:127878000-127881600	ZNF genes & repeats	Placenta	Placenta
3	chr7:127878600-127887400	Weak transcription	Right Atrium	heart
4	chr7:127880200-127881400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:127880600-127881200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:127880600-127881200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
7	chr7:127880800-127881200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr7:127880800-127881400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:127880800-127881400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:127880800-127881600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:127880800-127882000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
12	chr7:127881000-127881200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr7:127881000-127881200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:127881000-127881200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:127881000-127881200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:127881000-127881200	Bivalent Enhancer	Brain Hippocampus Middle	brain
17	chr7:127881000-127881200	Bivalent Enhancer	Fetal Brain Male	brain
18	chr7:127881000-127881200	Weak transcription	Pancreas	Pancrea
19	chr7:127881000-127881400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
20	chr7:127881000-127881400	Bivalent Enhancer	Lung	lung
21	chr7:127881000-127881600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr7:127881000-127882800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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