Variant report

Variant	rs73183114
Chromosome Location	chr3:105166451-105166452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11710166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710857	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11713535	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11714275	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714277	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11715283	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11716035	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11718405	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11718457	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11719817	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1898655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2200473	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2399049	0.88[ASN][1000 genomes]
rs2895300	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34029528	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3772542	0.88[ASN][1000 genomes]
rs3772544	0.88[ASN][1000 genomes]
rs3772547	0.88[ASN][1000 genomes]
rs481177	0.88[ASN][1000 genomes]
rs526297	0.88[ASN][1000 genomes]
rs57986655	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59322590	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598425	0.88[ASN][1000 genomes]
rs61522255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771935	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6771987	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6786815	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6794273	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175407	0.88[ASN][1000 genomes]
rs73175433	0.88[ASN][1000 genomes]
rs73175435	0.88[ASN][1000 genomes]
rs73175442	0.88[ASN][1000 genomes]
rs73175449	0.88[ASN][1000 genomes]
rs73175451	0.88[ASN][1000 genomes]
rs73175463	0.88[ASN][1000 genomes]
rs73177459	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73177465	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73177470	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73177478	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73177489	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73177494	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73179378	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73179384	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73181374	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73181376	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73181380	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73181387	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73181395	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73181396	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73181397	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73181401	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73183103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73183108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183186	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183188	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185106	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73185114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73189021	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73189028	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73189034	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73189060	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73192717	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73192730	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73192733	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73192737	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73192751	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73192754	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73192770	0.88[ASN][1000 genomes]
rs7647426	0.87[ASN][1000 genomes]
rs7647531	0.87[ASN][1000 genomes]
rs978436	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases
2	nsv829650	chr3:105070893-105255036	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv877304	chr3:105122214-105198374	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105137400-105178600	Weak transcription	Primary B cells from cord blood	blood
2	chr3:105144400-105185000	Weak transcription	Aorta	Aorta
3	chr3:105150800-105177800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:105155800-105177600	Weak transcription	HSMM	muscle
5	chr3:105159400-105167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:105159600-105167400	Weak transcription	Brain Angular Gyrus	brain
7	chr3:105159800-105166600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:105160400-105167400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:105160800-105167000	Weak transcription	Fetal Heart	heart
10	chr3:105162000-105167400	Weak transcription	Gastric	stomach
11	chr3:105163400-105177200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:105163600-105167400	Weak transcription	NHLF	lung
13	chr3:105163600-105167400	Weak transcription	Osteobl	bone
14	chr3:105163600-105177400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:105163800-105167200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:105165600-105166600	Enhancers	Brain Substantia Nigra	brain
17	chr3:105165600-105167200	Enhancers	Brain Cingulate Gyrus	brain
18	chr3:105165600-105167400	Enhancers	Brain Anterior Caudate	brain
19	chr3:105166200-105166800	Enhancers	Pancreas	Pancrea
20	chr3:105166200-105167200	Enhancers	Brain Hippocampus Middle	brain
21	chr3:105166200-105167400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:105166200-105167400	Weak transcription	Left Ventricle	heart
23	chr3:105166200-105167600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:105166200-105168600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:105166400-105166600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:105166400-105166600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:105166400-105167200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:105166400-105167200	Weak transcription	Liver	Liver
29	chr3:105166400-105167200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr3:105166400-105167800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:105166400-105168000	Enhancers	A549	lung

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