Variant report

Variant	rs11821723
Chromosome Location	chr11:17467337-17467338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17411217..17412789-chr11:17465893..17468748,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10766399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10766400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832788	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832789	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832791	0.90[EUR][1000 genomes]
rs11024290	0.87[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.95[MKK][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024296	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs11024297	0.87[EUR][1000 genomes]
rs11024299	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs11826760	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs12285976	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs12417170	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12786125	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12794627	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17775256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2040653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057661	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2073585	0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2073587	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074319	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2237966	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2237968	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs2237969	0.87[EUR][1000 genomes]
rs2237970	0.87[EUR][1000 genomes]
rs2237971	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs2237974	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs2237975	0.91[CEU][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2237976	0.81[CEU][hapmap];0.86[MEX][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2237978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237980	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237981	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs2237982	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237983	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2283254	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2283256	0.90[EUR][1000 genomes]
rs2283258	0.83[CEU][hapmap]
rs2283259	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2283261	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301703	0.80[AMR][1000 genomes]
rs3781950	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3815066	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3819518	0.91[EUR][1000 genomes]
rs3819520	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs3819521	0.91[EUR][1000 genomes]
rs3819522	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3819523	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs3819524	0.91[EUR][1000 genomes]
rs4148601	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs4148602	0.89[EUR][1000 genomes]
rs4148604	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs4148605	0.85[EUR][1000 genomes]
rs4148607	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs4148608	0.86[EUR][1000 genomes]
rs4148609	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4148610	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4459286	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6486370	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7105391	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7105832	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs7106250	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs7117162	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7119716	0.90[EUR][1000 genomes]
rs7120682	0.90[EUR][1000 genomes]
rs71457878	0.86[EUR][1000 genomes]
rs757109	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7932043	0.82[ASN][1000 genomes]
rs7934185	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7943461	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7947326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7950189	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs886291	1.00[CEU][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs886292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11821723	PDE3B	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17456000-17469200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:17460800-17474000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:17461200-17497400	Weak transcription	Gastric	stomach
4	chr11:17464800-17472800	Weak transcription	Brain Anterior Caudate	brain
5	chr11:17465800-17469600	Weak transcription	Brain Germinal Matrix	brain
6	chr11:17465800-17481600	Weak transcription	Fetal Brain Female	brain
7	chr11:17465800-17496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:17466000-17470000	Strong transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:17466200-17467400	Enhancers	Dnd41	blood
10	chr11:17466200-17473600	Weak transcription	Brain Angular Gyrus	brain
11	chr11:17466600-17469800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:17466800-17467400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr11:17467200-17467400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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