Variant report

Variant	rs167815
Chromosome Location	chr5:41066128-41066129
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10041397	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10473235	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10512764	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs1423395	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1423418	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs170529	0.89[CHB][hapmap]
rs2067542	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28470701	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs325853	0.83[YRI][hapmap]
rs325856	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs325857	0.83[CHB][hapmap];0.82[CHD][hapmap];0.91[YRI][hapmap]
rs325858	0.89[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap]
rs325859	0.89[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap]
rs325860	0.83[ASW][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.89[MKK][hapmap];0.91[YRI][hapmap]
rs325863	0.83[ASW][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.89[MKK][hapmap];0.91[YRI][hapmap];0.90[ASN][1000 genomes]
rs325864	0.88[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.90[ASN][1000 genomes]
rs325866	0.83[ASW][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.89[MKK][hapmap];0.91[YRI][hapmap];0.90[ASN][1000 genomes]
rs325867	0.89[CHB][hapmap];0.83[JPT][hapmap];0.91[YRI][hapmap];0.90[ASN][1000 genomes]
rs325868	0.89[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.90[ASN][1000 genomes]
rs325870	0.80[ASW][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.88[MKK][hapmap];0.91[YRI][hapmap];0.90[ASN][1000 genomes]
rs325871	0.91[YRI][hapmap]
rs325872	0.83[ASW][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.89[MKK][hapmap];0.91[YRI][hapmap]
rs325873	0.90[ASN][1000 genomes]
rs325875	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs325876	0.88[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap]
rs3805715	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3830070	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3830071	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3830072	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3830073	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs387699	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap]
rs391243	0.88[CHB][hapmap];0.83[JPT][hapmap];0.91[YRI][hapmap]
rs56909233	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs618334	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644800	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs648563	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67738881	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs865093	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs918608	0.92[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	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs167815	C5orf34	cis	cerebellum	SCAN
rs167815	PSMB1	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41065000-41069600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:41065000-41070000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:41065000-41070000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:41065400-41069800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:41065800-41066400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:41066000-41066400	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr5:41066000-41066600	Flanking Active TSS	Liver	Liver

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