Variant report

Variant	rs2218125
Chromosome Location	chr5:124476950-124476951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10040497	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10051335	0.87[ASN][1000 genomes]
rs10067150	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10067228	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10068672	0.87[ASN][1000 genomes]
rs10085148	0.80[ASN][1000 genomes]
rs1008776	0.92[ASN][1000 genomes]
rs1109910	0.80[ASN][1000 genomes]
rs1109911	0.87[ASN][1000 genomes]
rs1109912	0.87[ASN][1000 genomes]
rs11241788	0.91[ASN][1000 genomes]
rs11241789	0.96[ASN][1000 genomes]
rs11241790	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11743350	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744843	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746972	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11747137	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12186483	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12188105	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12189383	0.92[ASN][1000 genomes]
rs12520570	0.92[ASN][1000 genomes]
rs13161894	0.80[ASN][1000 genomes]
rs13162105	0.87[ASN][1000 genomes]
rs13162223	0.87[ASN][1000 genomes]
rs13172568	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13178008	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13187207	0.92[ASN][1000 genomes]
rs13188430	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13359280	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1371373	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1371374	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1550356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1550357	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1550358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1550361	0.92[ASN][1000 genomes]
rs1550364	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1550365	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17449514	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17456443	0.87[ASN][1000 genomes]
rs17456490	0.87[ASN][1000 genomes]
rs2033842	0.91[ASN][1000 genomes]
rs28662294	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34519250	0.87[ASN][1000 genomes]
rs35918516	0.87[ASN][1000 genomes]
rs4836151	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836153	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836155	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5016080	0.87[ASN][1000 genomes]
rs5016082	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5016083	0.87[ASN][1000 genomes]
rs56065010	0.87[ASN][1000 genomes]
rs56171860	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61581106	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62375663	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62375664	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6595576	0.87[ASN][1000 genomes]
rs6595577	0.87[ASN][1000 genomes]
rs6595578	0.87[ASN][1000 genomes]
rs6862170	0.87[ASN][1000 genomes]
rs6865099	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6865632	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6869646	0.91[ASN][1000 genomes]
rs6885185	0.92[ASN][1000 genomes]
rs6886317	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6888003	0.91[ASN][1000 genomes]
rs6892666	0.87[ASN][1000 genomes]
rs6895171	0.84[ASN][1000 genomes]
rs7719958	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7720525	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7721241	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7724689	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7733868	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs893714	0.83[ASN][1000 genomes]
rs893715	0.84[ASN][1000 genomes]
rs893716	0.80[ASN][1000 genomes]
rs953844	0.91[ASN][1000 genomes]
rs9686650	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[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	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv599658	chr5:124459547-124513012	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124471000-124478400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124471400-124484600	Weak transcription	HSMM	muscle
3	chr5:124475600-124477000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:124476000-124477200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:124476000-124477400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:124476000-124477400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:124476000-124477400	Enhancers	Fetal Intestine Small	intestine
8	chr5:124476000-124478800	Enhancers	NHDF-Ad	bronchial
9	chr5:124476200-124477000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:124476200-124477000	Enhancers	Fetal Intestine Large	intestine
11	chr5:124476200-124477000	Enhancers	NH-A	brain
12	chr5:124476200-124477400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:124476200-124477400	Enhancers	Adipose Nuclei	Adipose
14	chr5:124476400-124477200	Enhancers	HUVEC	blood vessel
15	chr5:124476600-124477000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:124476600-124477000	Enhancers	Primary B cells from peripheral blood	blood
17	chr5:124476600-124477200	Enhancers	Brain Hippocampus Middle	brain
18	chr5:124476600-124477400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr5:124476800-124477000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:124476800-124477200	Enhancers	NHLF	lung

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