Variant report

Variant	rs11930283
Chromosome Location	chr4:174914272-174914273
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	EP300	chr4:174909779-174914969	SK-N-SH	brain:	n/a	chr4:174913392-174913401 chr4:174910470-174910479 chr4:174913391-174913405

Variant related genes	Relation type
ENSG00000251216	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10025010	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10050239	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11723453	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11724561	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11734841	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11932516	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4285061	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4289426	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4290874	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4299560	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4331760	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4501199	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4627836	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55801980	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62336579	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62336581	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62336609	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6818208	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6818217	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6830884	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6833109	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6845317	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6856702	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9998241	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[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	nsv830154	chr4:174781983-174940640	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174910400-174914800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:174912400-174914600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:174914000-174914600	Weak transcription	Ovary	ovary
4	chr4:174914000-174918200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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