Variant report

Variant	rs73133265
Chromosome Location	chr5:92848097-92848098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11135388	0.92[EUR][1000 genomes]
rs11951859	0.89[EUR][1000 genomes]
rs11952115	0.90[EUR][1000 genomes]
rs11952600	0.91[EUR][1000 genomes]
rs11960608	0.90[EUR][1000 genomes]
rs12186735	0.93[ASN][1000 genomes]
rs12187239	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188716	0.93[ASN][1000 genomes]
rs12188845	0.91[EUR][1000 genomes]
rs12188905	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370977	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1457101	0.92[EUR][1000 genomes]
rs17082127	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17082129	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083145	0.89[EUR][1000 genomes]
rs17083155	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17083181	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083191	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083194	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083200	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083213	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083228	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17370695	0.93[ASN][1000 genomes]
rs1824153	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1844343	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083227	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279473	0.93[ASN][1000 genomes]
rs2344387	0.91[EUR][1000 genomes]
rs3776601	0.93[ASN][1000 genomes]
rs55861967	0.89[EUR][1000 genomes]
rs57165666	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57690257	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59360932	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61324921	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61352323	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556823	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6556824	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556826	0.81[EUR][1000 genomes]
rs6866771	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879816	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880843	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6889857	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133214	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133217	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133226	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133228	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133239	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133251	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133254	0.89[EUR][1000 genomes]
rs73133258	0.91[EUR][1000 genomes]
rs73133261	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133275	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133278	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133280	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133282	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133283	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133287	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133289	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133292	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133301	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135313	0.86[EUR][1000 genomes]
rs73135320	0.93[ASN][1000 genomes]
rs73135321	0.93[ASN][1000 genomes]
rs73772907	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7712899	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715034	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7727107	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	nsv1022355	chr5:92846496-92911797	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
2	nsv537807	chr5:92846496-92911797	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92815200-92859200	Weak transcription	Fetal Brain Male	brain
2	chr5:92827000-92858200	Weak transcription	Ovary	ovary
3	chr5:92827200-92851600	Weak transcription	Fetal Kidney	kidney
4	chr5:92827200-92858200	Weak transcription	Fetal Stomach	stomach
5	chr5:92839600-92857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:92839800-92855200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:92840200-92848200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:92840200-92848400	Weak transcription	HSMM	muscle
9	chr5:92841400-92857400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:92841600-92858200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:92842200-92853000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:92845800-92850600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:92846000-92849200	Enhancers	HUVEC	blood vessel
14	chr5:92847000-92848400	Weak transcription	NHLF	lung
15	chr5:92847200-92848200	Weak transcription	NH-A	brain
16	chr5:92847200-92848200	Weak transcription	NHDF-Ad	bronchial
17	chr5:92847200-92857200	Weak transcription	Fetal Lung	lung
18	chr5:92847400-92850200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:92847600-92854200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:92847800-92849000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:92848000-92850400	Enhancers	Osteobl	bone

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