Variant report

Variant	rs17069646
Chromosome Location	chr5:167452251-167452252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10039736	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11134483	0.95[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11134485	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11955430	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12522181	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12523097	0.87[EUR][1000 genomes]
rs1345735	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1821254	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1862419	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2546944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2546957	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2546960	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2569047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2617963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2617981	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs55859018	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890434	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs730256	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs889067	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs985650	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs992047	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167423400-167455400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167443800-167466000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:167446600-167453600	Weak transcription	Right Ventricle	heart
4	chr5:167447600-167483000	Weak transcription	Right Atrium	heart
5	chr5:167450200-167454600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:167450600-167457600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:167450600-167466600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:167450800-167453800	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:167450800-167454200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:167450800-167474000	Weak transcription	Left Ventricle	heart
11	chr5:167451000-167453600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:167451000-167454200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:167451200-167454000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:167451200-167455200	Strong transcription	NHEK	skin
15	chr5:167451400-167453600	Weak transcription	Fetal Brain Male	brain
16	chr5:167451800-167453800	Weak transcription	Brain Germinal Matrix	brain
17	chr5:167452000-167454200	Weak transcription	Fetal Lung	lung

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