Variant report

Variant	rs4499860
Chromosome Location	chr5:119691296-119691297
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	chr5:119680201..119681861-chr5:119689913..119692510,2	K562	blood:
2	chr5:119688806..119691602-chr5:119693680..119696391,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10036536	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10052468	0.87[EUR][1000 genomes]
rs10058597	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10059974	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072828	0.83[EUR][1000 genomes]
rs1108712	0.86[EUR][1000 genomes]
rs12654459	0.95[ASN][1000 genomes]
rs12656625	0.95[ASN][1000 genomes]
rs12656626	0.95[ASN][1000 genomes]
rs12657593	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12658673	0.95[ASN][1000 genomes]
rs12659480	1.00[ASN][1000 genomes]
rs13158141	0.82[EUR][1000 genomes]
rs13172224	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1368182	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1368191	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1432454	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1432456	0.85[EUR][1000 genomes]
rs1432458	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146485	0.95[ASN][1000 genomes]
rs17146501	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17421780	0.93[ASN][1000 genomes]
rs17422211	1.00[ASN][1000 genomes]
rs17481046	0.93[ASN][1000 genomes]
rs1835870	0.83[EUR][1000 genomes]
rs1897457	1.00[ASN][1000 genomes]
rs2053007	0.95[ASN][1000 genomes]
rs2116606	0.84[EUR][1000 genomes]
rs2116607	1.00[ASN][1000 genomes]
rs2163674	0.95[ASN][1000 genomes]
rs2897244	0.83[EUR][1000 genomes]
rs4895243	1.00[ASN][1000 genomes]
rs4895244	1.00[ASN][1000 genomes]
rs4895246	0.83[EUR][1000 genomes]
rs4895247	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4895248	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4895249	0.86[EUR][1000 genomes]
rs58274987	0.81[EUR][1000 genomes]
rs59264625	0.85[EUR][1000 genomes]
rs6595225	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6863052	0.87[ASN][1000 genomes]
rs6863943	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884101	1.00[ASN][1000 genomes]
rs6896794	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6899092	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72784167	0.95[ASN][1000 genomes]
rs72784168	0.93[ASN][1000 genomes]
rs72784169	0.93[ASN][1000 genomes]
rs72784172	1.00[ASN][1000 genomes]
rs72784173	1.00[ASN][1000 genomes]
rs72784175	1.00[ASN][1000 genomes]
rs72784177	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709140	0.87[EUR][1000 genomes]
rs7713691	0.87[EUR][1000 genomes]
rs7714965	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7718509	0.85[EUR][1000 genomes]
rs7722765	0.87[EUR][1000 genomes]
rs9327141	0.86[EUR][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv882786	chr5:119615110-119714817	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:119689400-119691800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:119689800-119691600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:119690200-119691600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:119690200-119701400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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