Variant report

Variant	rs17432343
Chromosome Location	chr2:213274105-213274106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10200047	1.00[CHD][hapmap]
rs10497966	1.00[CHD][hapmap]
rs10497975	1.00[CHD][hapmap]
rs11688231	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12151481	1.00[CHD][hapmap]
rs13008281	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1394791	1.00[ASW][hapmap];1.00[CHD][hapmap];0.90[LWK][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1394796	0.87[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs1505367	1.00[ASW][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];0.90[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1505371	1.00[CHD][hapmap]
rs16848108	1.00[CHD][hapmap]
rs17346615	1.00[CHD][hapmap]
rs17417113	1.00[CHD][hapmap]
rs17418292	1.00[CHD][hapmap]
rs2135155	0.87[EUR][1000 genomes]
rs34990972	0.84[EUR][1000 genomes]
rs35966747	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs35993802	0.87[EUR][1000 genomes]
rs62186274	0.89[EUR][1000 genomes]
rs6757140	1.00[CHD][hapmap]
rs7570330	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7609296	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834527	chr2:213115966-213334308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1014680	chr2:213142147-213301614	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv875811	chr2:213200920-213347104	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1003694	chr2:213216431-213290523	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1009594	chr2:213246650-213275389	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1006281	chr2:213246650-213279954	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv2763101	chr2:213248318-213290535	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17432343	PIKFYVE	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213273000-213274600	Enhancers	Fetal Heart	heart
2	chr2:213273200-213275000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:213273200-213275000	Enhancers	NHDF-Ad	bronchial

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