Variant report

Variant	rs2422059
Chromosome Location	chr1:72433075-72433076
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1016126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10889934	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10889936	0.85[ASN][1000 genomes]
rs10889938	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12090492	0.83[ASN][1000 genomes]
rs1426173	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1486089	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1486099	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1486100	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1486102	0.81[ASN][1000 genomes]
rs1486113	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1812738	0.85[ASN][1000 genomes]
rs1843582	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1937185	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1937189	0.85[ASN][1000 genomes]
rs2052722	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2256783	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2422058	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2489821	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2554417	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2630389	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2630411	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2630417	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2630418	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2768376	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2768378	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2768395	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2801322	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2801328	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3102902	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102905	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102908	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102911	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102917	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102923	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102926	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3128550	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3128557	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4111091	0.85[ASN][1000 genomes]
rs6424453	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6424454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7511981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7544722	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7544750	0.85[ASN][1000 genomes]
rs7550950	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1007910	chr1:72247302-72543998	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv999162	chr1:72319163-72477496	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv534995	chr1:72319163-72477496	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv428763	chr1:72353556-72499701	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1007073	chr1:72419858-72734657	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1354	chr1:72431164-72475522	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72431400-72433600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:72432200-72434200	Enhancers	Dnd41	blood
3	chr1:72432400-72433800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:72432800-72437600	Weak transcription	Fetal Heart	heart

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