Variant report

Variant	rs73430118
Chromosome Location	chr22:28913950-28913951
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	chr22:28912407..28915228-chr22:28919764..28921704,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10084639	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10222318	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10483148	1.00[ASN][1000 genomes]
rs10483150	1.00[ASN][1000 genomes]
rs12165715	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12165893	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12165913	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12166245	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12166475	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167122	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12167434	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12167532	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12167614	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12168031	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12168765	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12169071	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12169120	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12169232	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12169460	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12169880	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12171099	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1297607	0.82[EUR][1000 genomes]
rs134488	0.80[EUR][1000 genomes]
rs134493	1.00[ASN][1000 genomes]
rs134498	1.00[ASN][1000 genomes]
rs134501	1.00[ASN][1000 genomes]
rs134503	1.00[ASN][1000 genomes]
rs134504	1.00[ASN][1000 genomes]
rs134505	1.00[ASN][1000 genomes]
rs134506	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs134508	1.00[ASN][1000 genomes]
rs134509	1.00[ASN][1000 genomes]
rs134510	1.00[ASN][1000 genomes]
rs134512	1.00[ASN][1000 genomes]
rs134513	1.00[ASN][1000 genomes]
rs134514	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs134515	1.00[ASN][1000 genomes]
rs134516	1.00[ASN][1000 genomes]
rs134521	1.00[ASN][1000 genomes]
rs134524	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs134528	1.00[ASN][1000 genomes]
rs134547	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986244	1.00[ASN][1000 genomes]
rs16986248	1.00[ASN][1000 genomes]
rs16986251	1.00[ASN][1000 genomes]
rs16986254	1.00[ASN][1000 genomes]
rs16986257	1.00[ASN][1000 genomes]
rs16986266	1.00[ASN][1000 genomes]
rs16986288	1.00[ASN][1000 genomes]
rs16986308	0.82[EUR][1000 genomes]
rs16986311	1.00[ASN][1000 genomes]
rs16986314	1.00[ASN][1000 genomes]
rs16986398	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16986400	1.00[ASN][1000 genomes]
rs16986433	1.00[ASN][1000 genomes]
rs16986438	1.00[ASN][1000 genomes]
rs16986451	1.00[ASN][1000 genomes]
rs16986469	1.00[ASN][1000 genomes]
rs2013784	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2144922	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2881496	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28818228	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35438111	1.00[ASN][1000 genomes]
rs55738739	0.84[AMR][1000 genomes]
rs5752754	0.85[EUR][1000 genomes]
rs5762574	1.00[ASN][1000 genomes]
rs58049055	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58542867	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59262169	0.81[AMR][1000 genomes]
rs60042154	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6005809	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60065194	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60248971	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60693420	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6519751	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6519752	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6519753	0.84[AMR][1000 genomes]
rs6519758	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7288792	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7289534	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7289625	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291268	0.84[AMR][1000 genomes]
rs7293232	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73430123	0.81[AMR][1000 genomes]
rs73430168	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73430179	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73430189	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73432205	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73439811	0.84[AMR][1000 genomes]
rs738627	0.84[AMR][1000 genomes]
rs79104	1.00[ASN][1000 genomes]
rs79107	1.00[ASN][1000 genomes]
rs79111	1.00[ASN][1000 genomes]
rs8135424	0.89[AFR][1000 genomes]
rs8136767	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8136905	0.89[AFR][1000 genomes]
rs8136995	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8137808	0.84[AMR][1000 genomes]
rs8142681	0.97[AFR][1000 genomes]
rs9306457	0.84[AMR][1000 genomes]
rs9620797	0.84[AMR][1000 genomes]
rs9620799	0.84[AMR][1000 genomes]
rs9620803	0.84[AMR][1000 genomes]
rs9620804	0.84[AMR][1000 genomes]
rs9620808	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9620809	0.89[AFR][1000 genomes]
rs9620810	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9620811	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625475	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9625477	0.84[AMR][1000 genomes]
rs9625481	0.84[AMR][1000 genomes]
rs9625484	0.84[AMR][1000 genomes]
rs9625498	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625509	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625512	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625513	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625514	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625516	0.89[AFR][1000 genomes]
rs9625518	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9625520	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625521	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625522	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625523	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625524	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28908800-28917400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:28910800-28916600	Weak transcription	Ovary	ovary
3	chr22:28911000-28915400	Weak transcription	Fetal Lung	lung
4	chr22:28911000-28917000	Weak transcription	Adipose Nuclei	Adipose
5	chr22:28911000-28917600	Weak transcription	NHDF-Ad	bronchial
6	chr22:28911600-28915600	Weak transcription	Fetal Brain Female	brain
7	chr22:28913400-28923800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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