Variant report

Variant	rs4520003
Chromosome Location	chr6:55396500-55396501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:55390675..55392661-chr6:55393968..55396967,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10456714	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10948923	0.82[ASN][1000 genomes]
rs12191691	0.82[ASN][1000 genomes]
rs12192987	0.82[ASN][1000 genomes]
rs12195448	0.82[ASN][1000 genomes]
rs12195626	0.82[ASN][1000 genomes]
rs12196586	0.82[ASN][1000 genomes]
rs12196868	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12200360	0.82[ASN][1000 genomes]
rs12201934	0.85[ASN][1000 genomes]
rs12204776	0.85[ASN][1000 genomes]
rs12205981	0.85[ASN][1000 genomes]
rs12206196	0.82[ASN][1000 genomes]
rs12206446	0.89[ASN][1000 genomes]
rs12210510	0.85[ASN][1000 genomes]
rs12212707	0.85[ASN][1000 genomes]
rs12215544	0.96[ASN][1000 genomes]
rs12215967	0.82[ASN][1000 genomes]
rs12216528	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236131	0.85[ASN][1000 genomes]
rs4323306	0.85[ASN][1000 genomes]
rs4339457	0.85[ASN][1000 genomes]
rs4529292	0.85[ASN][1000 genomes]
rs4712104	0.85[ASN][1000 genomes]
rs62404044	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62405366	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62405367	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62405368	0.96[ASN][1000 genomes]
rs62405400	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72986078	0.80[ASN][1000 genomes]
rs7762185	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9382502	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382504	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9396103	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464263	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475343	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv948358	chr6:55351282-55477277	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1026411	chr6:55372845-55653498	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55376400-55399200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:55384400-55410200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:55394000-55407200	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:55396400-55396600	Enhancers	Left Ventricle	heart

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