Variant report

Variant	rs4753480
Chromosome Location	chr11:93309040-93309041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10765617	0.87[EUR][1000 genomes]
rs1080367	0.80[CEU][hapmap]
rs10831062	0.93[EUR][1000 genomes]
rs10831063	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10831064	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10831076	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10831077	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10831079	0.88[EUR][1000 genomes]
rs11020421	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11020426	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020427	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020450	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11020452	0.88[EUR][1000 genomes]
rs11020453	0.88[EUR][1000 genomes]
rs11020454	0.87[EUR][1000 genomes]
rs11020455	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11020479	0.80[CEU][hapmap]
rs11606802	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12222957	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939568	0.81[CEU][hapmap]
rs1939570	0.88[EUR][1000 genomes]
rs1939571	0.88[EUR][1000 genomes]
rs1939572	0.88[EUR][1000 genomes]
rs1944108	0.80[CEU][hapmap]
rs1954783	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2155247	0.88[EUR][1000 genomes]
rs2186685	0.80[CEU][hapmap]
rs2399686	0.83[ASN][1000 genomes]
rs2399688	0.90[ASN][1000 genomes]
rs34679231	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4237559	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4753089	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4753093	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4753094	0.88[EUR][1000 genomes]
rs67011570	0.89[EUR][1000 genomes]
rs7119935	0.95[EUR][1000 genomes]
rs7120590	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs948017	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4753480	FN5	cis	multi-tissue	Pritchard
rs4753480	ANKRD49	cis	parietal	SCAN
rs4753480	SCARNA9	cis	cerebellum	SCAN
rs4753480	MED17	cis	parietal	SCAN
rs4753480	SCARNA9	cis	parietal	SCAN
rs4753480	MED17	cis	cerebellum	SCAN
rs4753480	C11orf54	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93302200-93310400	Weak transcription	Psoas Muscle	Psoas
2	chr11:93304800-93309200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:93305800-93310000	Weak transcription	Hela-S3	cervix
4	chr11:93306800-93309800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:93306800-93310400	Weak transcription	A549	lung
6	chr11:93308800-93309200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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