Variant report

Variant	rs57244620
Chromosome Location	chr3:53513480-53513481
allele	A/G
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	MYBL2	chr3:53511974-53513633	HepG2	liver:	n/a	n/a
2	HNF4A	chr3:53512128-53513636	HepG2	liver:	n/a	chr3:53513519-53513532 chr3:53513118-53513126 chr3:53513508-53513523 chr3:53513518-53513533
3	SP1	chr3:53512142-53513678	HepG2	liver:	n/a	n/a
4	CEBPB	chr3:53513124-53513630	HepG2	liver:	n/a	chr3:53513280-53513291
5	MXI1	chr3:53512208-53513528	HepG2	liver:	n/a	n/a
6	TEAD4	chr3:53512057-53513549	HepG2	liver:	n/a	n/a
7	HEY1	chr3:53512137-53513530	HepG2	liver:	n/a	n/a
8	EP300	chr3:53512037-53513660	HepG2	liver:	n/a	chr3:53513201-53513215
9	CEBPB	chr3:53512208-53513521	HepG2	liver:	n/a	chr3:53513280-53513291
10	HDAC2	chr3:53512159-53513495	HepG2	liver:	n/a	chr3:53513206-53513220 chr3:53513205-53513219
11	POLR2A	chr3:53512150-53513562	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000227224	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11917637	1.00[AMR][1000 genomes]
rs11922512	1.00[AMR][1000 genomes]
rs17030962	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17053107	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17053120	1.00[AMR][1000 genomes]
rs2109183	1.00[AMR][1000 genomes]
rs72957240	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957241	1.00[AMR][1000 genomes]
rs72957261	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7635797	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53511600-53516800	Enhancers	Fetal Intestine Large	intestine
2	chr3:53511600-53516800	Enhancers	Fetal Intestine Small	intestine
3	chr3:53511800-53513600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:53512200-53513600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:53512200-53513600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:53512200-53513600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:53512200-53513800	Enhancers	Fetal Lung	lung
8	chr3:53512200-53513800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr3:53512400-53513600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:53512400-53513600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:53512400-53513600	Enhancers	Fetal Kidney	kidney
12	chr3:53512800-53513600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:53512800-53513600	Flanking Active TSS	Liver	Liver
14	chr3:53512800-53513600	Flanking Active TSS	HepG2	liver
15	chr3:53512800-53513800	Enhancers	Pancreas	Pancrea
16	chr3:53513000-53513600	Enhancers	Colonic Mucosa	Colon
17	chr3:53513000-53513600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
18	chr3:53513200-53513600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:53513200-53513800	Enhancers	A549	lung
20	chr3:53513400-53513600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:53513400-53513600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:53513400-53513600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr3:53513400-53513600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr3:53513400-53513600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
25	chr3:53513400-53518800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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