Variant report

Variant	rs61709472
Chromosome Location	chr14:55385327-55385328
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55383859..55386843-chr14:55389489..55391469,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10143038	0.97[EUR][1000 genomes]
rs10149103	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1107961	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11158028	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11621165	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11621177	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11626396	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11627963	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11629355	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11847771	0.99[EUR][1000 genomes]
rs11852045	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17128052	0.88[EUR][1000 genomes]
rs17253633	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34544088	0.87[EUR][1000 genomes]
rs3759662	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759663	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759664	0.95[EUR][1000 genomes]
rs3783641	0.89[EUR][1000 genomes]
rs45459500	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55704705	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55726650	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55751189	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56188649	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56213135	0.92[EUR][1000 genomes]
rs57095876	0.81[EUR][1000 genomes]
rs57622454	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59074935	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60258834	0.92[EUR][1000 genomes]
rs61224609	0.81[ASN][1000 genomes]
rs7147201	0.89[EUR][1000 genomes]
rs72713482	0.89[EUR][1000 genomes]
rs72715547	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72715552	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72715575	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8006363	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8007267	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8008858	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8010570	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8011358	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017210	0.84[EUR][1000 genomes]
rs8018688	0.97[EUR][1000 genomes]
rs8022453	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs943913	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 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	chr14:55370600-55388600	Weak transcription	HepG2	liver
2	chr14:55384800-55385400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:55385200-55385600	Enhancers	Fetal Heart	heart
4	chr14:55385200-55385600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr14:55385200-55385800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr14:55385200-55385800	Enhancers	HSMMtube	muscle

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