Variant report

Variant	rs56247021
Chromosome Location	chr18:40024527-40024528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10502788	0.87[AMR][1000 genomes]
rs1431839	1.00[AMR][1000 genomes]
rs16976124	1.00[EUR][1000 genomes]
rs16976125	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16976127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16976130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16976150	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16976256	0.87[AMR][1000 genomes]
rs16976288	1.00[AMR][1000 genomes]
rs16976292	1.00[AMR][1000 genomes]
rs2060137	0.97[AFR][1000 genomes]
rs346196	0.89[AFR][1000 genomes]
rs56021827	1.00[AMR][1000 genomes]
rs57636131	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59776713	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60261555	0.87[AMR][1000 genomes]
rs7234728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7237020	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7238162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7239930	0.87[AMR][1000 genomes]
rs73471193	0.80[AFR][1000 genomes]
rs73472899	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73473245	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73473267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73475010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73951582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73953438	1.00[AMR][1000 genomes]
rs8084805	0.87[AMR][1000 genomes]
rs971293	0.90[AFR][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	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv909572	chr18:39938510-40064000	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40022400-40027200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:40023200-40024600	Weak transcription	HSMM	muscle
3	chr18:40023600-40025000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:40023600-40027200	Enhancers	HepG2	liver
5	chr18:40024000-40024800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr18:40024000-40026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:40024000-40026800	Enhancers	NHDF-Ad	bronchial
8	chr18:40024000-40027000	Enhancers	HSMMtube	muscle
9	chr18:40024400-40026600	Enhancers	Muscle Satellite Cultured Cells	--

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