Variant report

Variant	rs6833109
Chromosome Location	chr4:174913548-174913549
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
2	EP300	chr4:174913508-174913731	SK-N-SH_RA	brain:	n/a	n/a
3	RAD21	chr4:174909773-174914092	SK-N-SH	brain:	n/a	chr4:174911455-174911474 chr4:174912179-174912189
4	SMC3	chr4:174910528-174913721	SK-N-SH	brain:	n/a	chr4:174911459-174911473

Variant related genes	Relation type
ENSG00000251216	TF binding region

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10025010	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10050239	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723453	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11724561	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734841	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11930283	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11932516	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4285061	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4289426	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4290874	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4299560	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4331760	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501199	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627836	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801980	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60891530	0.82[EUR][1000 genomes]
rs62336579	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62336581	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62336609	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814121	0.84[EUR][1000 genomes]
rs6815176	0.84[EUR][1000 genomes]
rs6818208	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6818217	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6830884	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6845317	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6856702	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858266	0.84[EUR][1000 genomes]
rs9998241	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:5 , 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	chr4:174913000-174914000	Enhancers	Ovary	ovary
4	chr4:174913200-174914000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:174913400-174913800	Enhancers	Fetal Lung	lung

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