Variant report

Variant	rs2116607
Chromosome Location	chr5:119689860-119689861
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	chr5:119688806..119691602-chr5:119693680..119696391,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10058597	0.91[ASN][1000 genomes]
rs10059974	1.00[ASN][1000 genomes]
rs12654459	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12656625	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12656626	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12657593	0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12658673	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12659480	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368182	0.87[ASN][1000 genomes]
rs1368190	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1432455	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1432458	1.00[ASN][1000 genomes]
rs1503928	0.91[EUR][1000 genomes]
rs17146485	0.95[ASN][1000 genomes]
rs17146501	0.93[ASN][1000 genomes]
rs17146602	0.92[EUR][1000 genomes]
rs17421780	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17422211	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17422462	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17481046	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17488124	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17489056	0.92[EUR][1000 genomes]
rs1897457	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2116608	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2163674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4499860	1.00[ASN][1000 genomes]
rs4895155	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4895243	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895244	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595233	0.92[EUR][1000 genomes]
rs6650983	0.92[EUR][1000 genomes]
rs6863052	0.87[ASN][1000 genomes]
rs6863943	1.00[ASN][1000 genomes]
rs6884101	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896794	0.98[ASN][1000 genomes]
rs6899092	0.91[ASN][1000 genomes]
rs72784167	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72784168	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72784169	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72784172	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784173	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784175	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784177	1.00[ASN][1000 genomes]
rs72784183	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72784184	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72784190	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72784191	0.94[EUR][1000 genomes]
rs72784195	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72784197	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72784200	0.95[EUR][1000 genomes]
rs72784201	0.94[EUR][1000 genomes]
rs72784202	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72786208	0.92[EUR][1000 genomes]
rs72786214	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72786216	0.92[EUR][1000 genomes]
rs72786223	0.92[EUR][1000 genomes]
rs72786225	0.91[EUR][1000 genomes]
rs72786226	0.91[EUR][1000 genomes]
rs7730105	0.86[AFR][1000 genomes];0.91[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	chr5:119689800-119690200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:119689800-119690400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:119689800-119691600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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