Variant report

Variant	rs11227719
Chromosome Location	chr11:56036787-56036788
allele	A/C
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:23)

rs_ID	r²[population]
rs1002773	0.87[EUR][1000 genomes]
rs10895996	0.85[YRI][hapmap]
rs10896159	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10896271	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap]
rs10896272	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap]
rs10896333	0.80[EUR][1000 genomes]
rs11228071	0.89[EUR][1000 genomes]
rs11228165	1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap]
rs11228166	0.81[CHB][hapmap]
rs1156808	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11600863	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1351534	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1573511	0.87[EUR][1000 genomes]
rs17150286	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17150411	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1842674	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1894026	0.87[EUR][1000 genomes]
rs1945232	0.92[EUR][1000 genomes]
rs4939044	0.86[EUR][1000 genomes]
rs57377676	0.92[EUR][1000 genomes]
rs7126993	0.87[EUR][1000 genomes]
rs7481663	0.87[EUR][1000 genomes]
rs998544	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975114	chr11:55751535-56124251	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv521440	chr11:55763943-56052521	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv949437	chr11:55780469-56042980	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1044859	chr11:55900482-56121727	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1050024	chr11:55900482-56518943	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
6	nsv497854	chr11:55917298-56537994	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
7	esv3379598	chr11:56020228-56043618	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11227719	SLC43A1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56036400-56036800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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