Variant report

Variant	rs73430168
Chromosome Location	chr22:28985428-28985429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10084639	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10222318	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439931	1.00[ASN][1000 genomes]
rs12165715	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12165893	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166245	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166363	0.85[AFR][1000 genomes]
rs12166475	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12167122	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12167434	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167532	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12167614	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167667	0.85[AFR][1000 genomes]
rs12168031	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168765	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169071	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169120	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169232	0.88[EUR][1000 genomes]
rs12169262	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12169460	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169595	0.88[AFR][1000 genomes]
rs12169880	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12171099	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134506	0.81[EUR][1000 genomes]
rs134514	0.83[AMR][1000 genomes]
rs134524	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs134547	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16986398	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16986509	0.88[AFR][1000 genomes]
rs17883639	1.00[ASN][1000 genomes]
rs17883954	1.00[ASN][1000 genomes]
rs17886970	1.00[ASN][1000 genomes]
rs2013784	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2144922	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2881496	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28818228	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58049055	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58542867	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005809	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60065194	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60248971	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60693420	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6519753	0.88[AFR][1000 genomes]
rs6519758	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288792	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289534	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289625	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7291268	0.88[AFR][1000 genomes]
rs7293232	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73430118	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73430123	0.88[AFR][1000 genomes]
rs73430136	0.85[AFR][1000 genomes]
rs73430155	0.88[AFR][1000 genomes]
rs73430163	0.81[AFR][1000 genomes]
rs73430179	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73430186	0.85[AFR][1000 genomes]
rs73430189	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73432205	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738627	0.82[AFR][1000 genomes]
rs8135424	1.00[ASN][1000 genomes]
rs8136767	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8136995	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137200	0.85[AFR][1000 genomes]
rs8142681	1.00[ASN][1000 genomes]
rs9306457	0.88[AFR][1000 genomes]
rs9620797	0.87[AFR][1000 genomes]
rs9620799	0.87[AFR][1000 genomes]
rs9620803	0.88[AFR][1000 genomes]
rs9620804	0.88[AFR][1000 genomes]
rs9620808	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9620810	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620811	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625477	0.82[AFR][1000 genomes]
rs9625481	0.88[AFR][1000 genomes]
rs9625484	0.88[AFR][1000 genomes]
rs9625498	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625509	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625510	0.85[AFR][1000 genomes]
rs9625512	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625513	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625514	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625515	0.81[AFR][1000 genomes]
rs9625518	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625520	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625521	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625522	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625523	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625524	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28956800-28993200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr22:28967800-28991600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:28967800-28997600	Weak transcription	HepG2	liver
4	chr22:28979200-28991400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:28979200-28993600	Weak transcription	Fetal Stomach	stomach
6	chr22:28979600-28990400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:28980000-28990600	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:28980400-28990600	Weak transcription	NHLF	lung
9	chr22:28980600-28985600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:28981400-28989400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:28981600-28990400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:28984800-28985600	Enhancers	Dnd41	blood
13	chr22:28984800-28985600	Enhancers	K562	blood
14	chr22:28985000-28985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:28985200-28985600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr22:28985200-28985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:28985400-28987000	Weak transcription	A549	lung

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