Variant report

Variant	rs73343005
Chromosome Location	chr5:127019220-127019221
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	chr5:127018619..127020930-chr5:127030994..127033647,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10060515	0.84[ASN][1000 genomes]
rs10463500	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10463830	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10463831	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10519957	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11241937	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12109863	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12110005	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12513657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12513840	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12514061	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12514063	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12515664	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12515942	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12516808	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12518298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12519916	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12520199	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12522171	0.81[ASN][1000 genomes]
rs12522308	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12523504	0.81[AMR][1000 genomes]
rs17696654	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17696713	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17696737	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17764290	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17764334	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17764418	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1966643	0.84[AMR][1000 genomes]
rs2280170	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35164039	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4835929	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4836329	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4836331	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4836333	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6860127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874932	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6877039	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73341170	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73341185	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73343059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7706845	0.81[AMR][1000 genomes]
rs7707416	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7734486	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9686108	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9688160	0.81[AMR][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	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	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	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
4	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127002800-127022200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:127016600-127021000	Weak transcription	Hela-S3	cervix
3	chr5:127018600-127019800	Enhancers	Psoas Muscle	Psoas
4	chr5:127018800-127019800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr5:127019000-127022200	Weak transcription	Ovary	ovary
6	chr5:127019200-127019600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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