Variant report

Variant	rs1547950
Chromosome Location	chr3:53568283-53568284
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	GATA3	chr3:53568171-53568598	SK-N-SH	brain:	n/a	chr3:53568359-53568375 chr3:53568363-53568370 chr3:53568363-53568370 chr3:53568363-53568370
2	EP300	chr3:53568236-53568585	SK-N-SH_RA	brain:	n/a	chr3:53568506-53568522
3	EP300	chr3:53567379-53571150	SK-N-SH	brain:	n/a	chr3:53568506-53568522 chr3:53569655-53569665 chr3:53569443-53569457 chr3:53570224-53570233
4	EP300	chr3:53568248-53568510	SK-N-SH_RA	brain:	n/a	n/a
5	GATA3	chr3:53568179-53568624	SK-N-SH	brain:	n/a	chr3:53568359-53568375 chr3:53568363-53568370 chr3:53568363-53568370 chr3:53568363-53568370
6	GATA2	chr3:53568181-53568637	SH-SY5Y	brain:	n/a	chr3:53568359-53568375 chr3:53568363-53568370 chr3:53568363-53568370 chr3:53568363-53568370
7	GATA3	chr3:53568228-53568504	SH-SY5Y	brain:	n/a	chr3:53568359-53568375 chr3:53568363-53568370 chr3:53568363-53568370 chr3:53568363-53568370

Variant related genes	Relation type
ENSG00000251987	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10049492	0.87[EUR][1000 genomes]
rs1547951	0.93[ASN][1000 genomes]
rs17053168	0.87[ASN][1000 genomes]
rs3774425	0.91[ASN][1000 genomes]
rs3774441	0.81[ASN][1000 genomes]
rs807190	0.86[EUR][1000 genomes]
rs9311502	0.92[ASN][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53552400-53568400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:53560400-53568400	Weak transcription	Pancreas	Pancrea
3	chr3:53560600-53587000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:53561000-53568800	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:53563600-53569400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:53564800-53568600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:53564800-53579400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:53566400-53569000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:53566400-53569600	Strong transcription	Fetal Intestine Large	intestine
10	chr3:53566400-53583200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:53566800-53569000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:53566800-53569200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:53566800-53569200	Strong transcription	Fetal Intestine Small	intestine
14	chr3:53566800-53570600	Enhancers	Fetal Lung	lung
15	chr3:53567200-53569000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:53567800-53569000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:53567800-53569600	Enhancers	Fetal Brain Male	brain
18	chr3:53567800-53569800	Enhancers	Fetal Kidney	kidney
19	chr3:53567800-53579400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:53568200-53568600	Enhancers	Brain Inferior Temporal Lobe	brain

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