Variant report

Variant	rs11209743
Chromosome Location	chr1:71506064-71506065
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71498308..71501736-chr1:71503473..71506751,3	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1009311	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1022527	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1022529	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10399632	0.81[AMR][1000 genomes]
rs10399704	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10399705	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10399706	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10399797	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10399806	0.81[AMR][1000 genomes]
rs10493481	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10749799	0.81[AMR][1000 genomes]
rs10789315	0.80[AFR][1000 genomes]
rs10789316	0.81[AMR][1000 genomes]
rs11209733	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11209736	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11209739	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11209740	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11209747	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11209756	0.80[ASN][1000 genomes]
rs12118599	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12119958	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12120041	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12130153	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12134962	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12139565	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12139719	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12139935	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12729268	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12739047	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12739685	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12748649	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12756951	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12757161	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1418449	0.86[ASN][1000 genomes]
rs1546809	0.80[ASN][1000 genomes]
rs1573061	0.82[ASN][1000 genomes]
rs1832900	0.87[ASN][1000 genomes]
rs1954285	0.82[ASN][1000 genomes]
rs2066371	0.82[ASN][1000 genomes]
rs2066373	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2143157	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2179412	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2206345	0.81[AMR][1000 genomes]
rs2206346	0.83[AMR][1000 genomes]
rs2223502	0.83[AMR][1000 genomes]
rs2268056	0.83[AMR][1000 genomes]
rs2268058	0.83[AMR][1000 genomes]
rs2268059	0.80[AMR][1000 genomes]
rs2268060	0.83[AMR][1000 genomes]
rs2268061	0.83[AMR][1000 genomes]
rs2268062	0.83[AMR][1000 genomes]
rs2300169	0.83[AMR][1000 genomes]
rs2300170	0.81[AMR][1000 genomes]
rs2300171	0.81[AMR][1000 genomes]
rs2300175	0.81[AMR][1000 genomes]
rs2300178	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2639329	0.82[ASN][1000 genomes]
rs2639330	0.80[ASN][1000 genomes]
rs2639335	0.82[ASN][1000 genomes]
rs2639338	0.82[ASN][1000 genomes]
rs2694954	0.80[ASN][1000 genomes]
rs2790675	0.80[ASN][1000 genomes]
rs2796187	0.82[ASN][1000 genomes]
rs2796188	0.82[ASN][1000 genomes]
rs2796189	0.82[ASN][1000 genomes]
rs2796190	0.82[ASN][1000 genomes]
rs2796192	0.80[ASN][1000 genomes]
rs2796196	0.86[ASN][1000 genomes]
rs2796201	0.82[ASN][1000 genomes]
rs2796202	0.82[ASN][1000 genomes]
rs2796203	0.80[ASN][1000 genomes]
rs2817864	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2817869	0.95[ASN][1000 genomes]
rs2901523	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs33936437	0.81[AMR][1000 genomes]
rs3765892	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3765894	0.81[AMR][1000 genomes]
rs4128461	0.89[EUR][1000 genomes]
rs4272572	0.93[ASN][1000 genomes]
rs4361943	0.81[AMR][1000 genomes]
rs4367753	0.86[ASN][1000 genomes]
rs4397614	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4425937	0.81[AMR][1000 genomes]
rs4425938	0.82[ASN][1000 genomes]
rs4437828	0.83[AMR][1000 genomes]
rs4439319	0.81[AMR][1000 genomes]
rs4511057	0.81[AMR][1000 genomes]
rs4520371	0.89[EUR][1000 genomes]
rs4549988	0.81[AMR][1000 genomes]
rs4650099	0.87[EUR][1000 genomes]
rs4650100	0.88[EUR][1000 genomes]
rs5682	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6680193	0.93[ASN][1000 genomes]
rs7411	0.95[ASN][1000 genomes]
rs7516464	0.81[ASN][1000 genomes]
rs7525785	0.89[AMR][1000 genomes]
rs7556111	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7556650	0.83[AMR][1000 genomes]
rs8179367	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8179390	0.92[AMR][1000 genomes]
rs8179408	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs880098	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs952337	0.82[ASN][1000 genomes]
rs997997	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
3	nsv461851	chr1:71442626-71507541	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
4	nsv546473	chr1:71442626-71507541	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	esv1850593	chr1:71444149-71514969	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871242	chr1:71481050-71519326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11209743	PTGER3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71496000-71506200	Weak transcription	Fetal Stomach	stomach
2	chr1:71497600-71510600	Weak transcription	Aorta	Aorta
3	chr1:71503000-71511200	Weak transcription	Pancreas	Pancrea
4	chr1:71504800-71507000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:71505000-71506800	Weak transcription	Adipose Nuclei	Adipose
6	chr1:71505000-71511200	Weak transcription	Gastric	stomach
7	chr1:71505600-71506200	Weak transcription	K562	blood
8	chr1:71505800-71506400	Enhancers	NHDF-Ad	bronchial
9	chr1:71506000-71506800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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