Variant report

Variant	rs2047235
Chromosome Location	chr4:81370340-81370341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10031438	0.90[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1039054	0.93[ASN][1000 genomes]
rs11099227	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11099231	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11099233	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11099236	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11099238	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1156872	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11721676	0.93[ASN][1000 genomes]
rs11723594	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11724838	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11727411	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11729082	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11731757	0.82[EUR][1000 genomes]
rs11736014	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11736601	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11929913	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11930816	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11932267	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11936436	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11936703	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11938178	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11939741	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11944059	0.81[EUR][1000 genomes]
rs11946412	0.93[ASN][1000 genomes]
rs12501575	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13108814	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13129145	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1390254	0.92[ASN][1000 genomes]
rs1458026	0.83[CHB][hapmap]
rs1458045	0.89[CHB][hapmap]
rs17004906	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1994981	0.91[ASN][1000 genomes]
rs1994982	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2201531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463662	0.90[ASN][1000 genomes]
rs4693022	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55912262	0.84[EUR][1000 genomes]
rs56054570	0.93[ASN][1000 genomes]
rs56267604	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57025153	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57686880	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60513752	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60554077	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61325136	0.84[EUR][1000 genomes]
rs6534957	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821676	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6821990	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6842892	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72860771	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72860772	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72860777	0.82[EUR][1000 genomes]
rs72860781	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72860789	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72860798	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72862015	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7654257	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670914	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7695356	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7699572	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9307683	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9990885	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv999334	chr4:81324288-81409040	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv537153	chr4:81324288-81409040	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2047235	MRPS18C	cis	parietal	SCAN
rs2047235	SYT15	trans	cerebellum	SCAN
rs2047235	SCD5	cis	parietal	SCAN
rs2047235	CDS1	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81361600-81381000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:81367600-81375200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:81367800-81375200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:81370000-81375200	Weak transcription	Osteobl	bone
5	chr4:81370200-81370400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:81370200-81375200	Weak transcription	NHDF-Ad	bronchial

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