Variant report

Variant	rs170741
Chromosome Location	chr5:56952654-56952655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10057570	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057880	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077005	0.93[AFR][1000 genomes]
rs10487613	0.93[AFR][1000 genomes]
rs10487614	0.93[AFR][1000 genomes]
rs12520986	0.93[AFR][1000 genomes]
rs13185580	0.93[AFR][1000 genomes]
rs1347071	1.00[YRI][hapmap]
rs170740	0.93[AFR][1000 genomes]
rs183477	0.93[AFR][1000 genomes]
rs1861059	1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs2017201	0.93[AFR][1000 genomes]
rs2041678	0.93[AFR][1000 genomes]
rs2112888	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2161500	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191445	0.93[AFR][1000 genomes]
rs2191446	0.93[AFR][1000 genomes]
rs2191448	0.93[AFR][1000 genomes]
rs2215420	0.93[AFR][1000 genomes]
rs229960	0.93[AFR][1000 genomes]
rs229961	0.93[AFR][1000 genomes]
rs229963	0.93[AFR][1000 genomes]
rs229965	0.93[AFR][1000 genomes]
rs230853	0.93[AFR][1000 genomes]
rs230860	0.93[AFR][1000 genomes]
rs230861	0.93[AFR][1000 genomes]
rs2408849	0.93[AFR][1000 genomes]
rs2568537	1.00[YRI][hapmap]
rs2898028	0.93[AFR][1000 genomes]
rs4235474	0.93[AFR][1000 genomes]
rs4285175	0.87[MKK][hapmap]
rs4699910	0.93[AFR][1000 genomes]
rs4700214	0.93[AFR][1000 genomes]
rs6450431	0.93[AFR][1000 genomes]
rs6886241	0.93[AFR][1000 genomes]
rs7726732	0.93[AFR][1000 genomes]
rs7732108	0.93[AFR][1000 genomes]
rs854036	1.00[YRI][hapmap]
rs917655	0.93[AFR][1000 genomes]
rs986101	0.93[AFR][1000 genomes]
rs991727	0.93[AFR][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	nsv830309	chr5:56837590-56978283	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs170741	CDC20B	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:56946800-56961200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:56950000-56953400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:56950000-56953800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:56950200-56954000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:56950200-56954200	Weak transcription	Brain Anterior Caudate	brain
6	chr5:56950400-56952800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:56950400-56956200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:56950600-56957400	Weak transcription	Fetal Heart	heart
9	chr5:56950800-56959200	Weak transcription	Right Ventricle	heart
10	chr5:56951800-56954800	Weak transcription	Liver	Liver

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