Variant report

Variant	rs72945540
Chromosome Location	chr11:77288495-77288496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11237234	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11822592	0.81[EUR][1000 genomes]
rs12417215	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12418261	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12419186	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12420021	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12421695	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12574660	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12574999	0.81[EUR][1000 genomes]
rs12575305	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575763	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12577362	0.86[ASN][1000 genomes]
rs12577552	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1540179	0.81[EUR][1000 genomes]
rs1945751	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2156842	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2187547	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276415	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276416	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28421376	0.81[EUR][1000 genomes]
rs28730304	0.81[EUR][1000 genomes]
rs3781616	0.82[EUR][1000 genomes]
rs4301811	0.85[ASN][1000 genomes]
rs4399350	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4486654	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4553396	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4606503	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944169	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4944170	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4944171	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4944173	0.82[EUR][1000 genomes]
rs4945182	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945183	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945187	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4945189	0.81[EUR][1000 genomes]
rs4945190	0.81[EUR][1000 genomes]
rs4945191	0.81[EUR][1000 genomes]
rs4945192	0.82[EUR][1000 genomes]
rs56175172	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57588070	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57805854	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58608947	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58720932	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59459776	0.81[EUR][1000 genomes]
rs59581090	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59765258	0.82[EUR][1000 genomes]
rs59832115	0.81[EUR][1000 genomes]
rs59969402	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59983642	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60045757	0.82[ASN][1000 genomes]
rs60132034	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60842160	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60849458	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60929773	0.82[EUR][1000 genomes]
rs61358482	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61468764	0.81[EUR][1000 genomes]
rs6592736	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66488360	0.82[EUR][1000 genomes]
rs66504136	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66684353	0.82[EUR][1000 genomes]
rs67062156	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67807487	0.81[EUR][1000 genomes]
rs67843465	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68013767	0.82[EUR][1000 genomes]
rs68052959	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7106659	0.81[ASN][1000 genomes]
rs7109398	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7109527	0.82[EUR][1000 genomes]
rs7119934	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7128881	0.82[EUR][1000 genomes]
rs713083	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7131169	0.81[EUR][1000 genomes]
rs7131298	0.81[EUR][1000 genomes]
rs72943487	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72943494	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72943497	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72945524	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72945566	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72945586	0.82[EUR][1000 genomes]
rs7930885	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7930988	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7932111	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7932603	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7933197	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7947430	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7950612	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2752651	chr11:77211136-77318279	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised 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
7	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72945540	AAMDC	cis	Artery Tibial	GTEx
rs72945540	RP11-91P24.7	cis	Artery Tibial	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77280800-77299600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:77285800-77294400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:77287800-77291600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:77287800-77299600	Weak transcription	Ovary	ovary

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