Variant report

Variant	rs470370
Chromosome Location	chr11:120013984-120013985
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	chr11:120013646-120015158	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
TRIM29	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2444240	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs470373	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs470645	0.83[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs470876	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs470941	0.81[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs471001	0.87[ASN][1000 genomes]
rs488672	0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4936509	0.92[CEU][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs521556	0.82[ASN][1000 genomes]
rs529657	0.82[ASN][1000 genomes]
rs531260	0.85[ASN][1000 genomes]
rs533636	0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs550164	0.81[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs561498	0.94[JPT][hapmap]
rs566935	0.94[JPT][hapmap]
rs573211	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs605374	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs626225	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs670855	0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs896691	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs470370	RNF214	cis	cerebellum	SCAN
rs470370	UBE4A	cis	parietal	SCAN
rs470370	DPAGT1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120007200-120021400	Weak transcription	Right Atrium	heart
2	chr11:120010800-120018000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:120011200-120014200	Enhancers	Esophagus	oesophagus

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