Variant report

Variant	rs714296
Chromosome Location	chr18:40222048-40222049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1036079	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1036080	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10502798	1.00[CEU][hapmap]
rs10502799	1.00[CEU][hapmap]
rs11874133	1.00[CEU][hapmap]
rs11874179	1.00[CEU][hapmap]
rs11874949	1.00[CEU][hapmap]
rs11878096	1.00[CEU][hapmap]
rs16976378	1.00[EUR][1000 genomes]
rs16976528	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16976782	1.00[CEU][hapmap]
rs16976794	1.00[CEU][hapmap]
rs16976882	1.00[CEU][hapmap]
rs16976923	1.00[CEU][hapmap]
rs16976938	1.00[CEU][hapmap]
rs16976940	1.00[CEU][hapmap]
rs16976943	1.00[CEU][hapmap]
rs16976963	1.00[CEU][hapmap]
rs1943176	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1964355	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28462375	1.00[EUR][1000 genomes]
rs28590475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28838875	1.00[AMR][1000 genomes]
rs60297859	1.00[EUR][1000 genomes]
rs60628217	1.00[EUR][1000 genomes]
rs61465192	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7232281	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7233351	1.00[CEU][hapmap]
rs7233685	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7236730	1.00[CEU][hapmap]
rs7245114	1.00[CEU][hapmap]
rs73478552	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084707	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9955701	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9960152	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9966677	1.00[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	esv3447158	chr18:40045478-40320720	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv833632	chr18:40187679-40388058	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1056794	chr18:40197837-40688514	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40216600-40224800	Weak transcription	Brain Hippocampus Middle	brain
2	chr18:40216600-40225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:40220200-40225400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr18:40220400-40222800	Weak transcription	HUVEC	blood vessel
5	chr18:40221400-40222800	Enhancers	Brain Substantia Nigra	brain
6	chr18:40221400-40223200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr18:40222000-40222200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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