Variant report

Variant	rs4459286
Chromosome Location	chr11:17469466-17469467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17467958..17471223-chr11:17471420..17474458,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10400389	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs10766399	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10766400	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10766401	0.89[EUR][1000 genomes]
rs10766402	0.92[EUR][1000 genomes]
rs10766403	0.91[EUR][1000 genomes]
rs10832788	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832789	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024295	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11821723	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11826760	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs12285976	0.80[CEU][hapmap]
rs12417170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12786125	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12794627	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12803384	0.91[EUR][1000 genomes]
rs17775256	0.83[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2040653	0.83[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2057661	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2073585	0.96[CEU][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2073586	0.96[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes]
rs2073587	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074319	0.82[AMR][1000 genomes]
rs2237966	0.82[MEX][hapmap]
rs2237972	0.81[EUR][1000 genomes]
rs2237973	0.86[EUR][1000 genomes]
rs2237975	0.91[MEX][hapmap];0.83[AMR][1000 genomes]
rs2237976	0.96[CEU][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2237977	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2237978	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2237979	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.96[ASN][1000 genomes]
rs2237980	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs2237982	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237983	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2283254	0.82[MEX][hapmap]
rs2283259	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2283261	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2301703	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs3781950	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3815066	0.86[AMR][1000 genomes]
rs3819517	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs3819519	0.92[EUR][1000 genomes]
rs3819520	0.81[CEU][hapmap]
rs3819522	0.81[CEU][hapmap]
rs3819523	0.80[CEU][hapmap]
rs4148603	0.90[EUR][1000 genomes]
rs4148604	0.80[CEU][hapmap]
rs4148606	0.86[EUR][1000 genomes]
rs4148609	0.82[AMR][1000 genomes]
rs4148610	0.81[CEU][hapmap]
rs6486370	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7105391	0.84[CEU][hapmap]
rs7105832	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs7117162	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7932043	0.86[ASN][1000 genomes]
rs7934185	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943461	0.81[CEU][hapmap]
rs7947326	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7950189	0.80[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs886291	0.84[CEU][hapmap];0.90[MEX][hapmap]
rs886292	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4459286	ABCC8	cis	Muscle Skeletal	GTEx
rs4459286	ABCC8	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17460800-17474000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:17461200-17497400	Weak transcription	Gastric	stomach
3	chr11:17464800-17472800	Weak transcription	Brain Anterior Caudate	brain
4	chr11:17465800-17469600	Weak transcription	Brain Germinal Matrix	brain
5	chr11:17465800-17481600	Weak transcription	Fetal Brain Female	brain
6	chr11:17465800-17496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:17466000-17470000	Strong transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:17466200-17473600	Weak transcription	Brain Angular Gyrus	brain
9	chr11:17466600-17469800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:17467400-17478600	Weak transcription	Dnd41	blood
11	chr11:17469200-17470400	Strong transcription	Brain Inferior Temporal Lobe	brain

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