Variant report

Variant	rs1966643
Chromosome Location	chr5:127079509-127079510
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	chr5:127078318..127080350-chr5:127080995..127082546,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10463500	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10463830	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10463831	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10463833	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10519957	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12513657	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12513840	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12514061	0.84[AMR][1000 genomes]
rs12514063	0.88[AMR][1000 genomes]
rs12515578	0.83[AMR][1000 genomes]
rs12515664	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12515942	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12518298	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12519916	0.85[AMR][1000 genomes]
rs12520720	0.87[ASN][1000 genomes]
rs12522308	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12523504	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1515641	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17696713	0.88[AMR][1000 genomes]
rs17696737	0.88[AMR][1000 genomes]
rs17696932	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17764334	0.88[AMR][1000 genomes]
rs17764418	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1897524	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35164039	0.85[AMR][1000 genomes]
rs35890477	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835929	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4836331	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4836333	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57808867	0.89[ASN][1000 genomes]
rs6860127	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6874681	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6874932	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6877039	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73341170	0.82[AMR][1000 genomes]
rs73341185	0.84[AMR][1000 genomes]
rs73343005	0.84[AMR][1000 genomes]
rs73343059	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73345063	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7706845	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7707416	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7714051	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7722425	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7729470	0.89[ASN][1000 genomes]
rs9688160	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127076000-127094800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:127078400-127082600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:127079200-127079600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:127079200-127080400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:127079200-127081000	Enhancers	Primary hematopoietic stem cells	blood

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