Variant report

Variant	rs11024449
Chromosome Location	chr11:18057885-18057886
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	chr11:18056958..18058946-chr11:18069914..18072112,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10488682	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10500831	0.83[CEU][hapmap]
rs10832871	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs10832875	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10832876	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024433	0.84[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs11024434	0.95[CEU][hapmap]
rs11024445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11024460	0.83[CEU][hapmap];0.83[MEX][hapmap]
rs11024482	0.83[CEU][hapmap]
rs11024485	0.83[CEU][hapmap]
rs11575890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12364327	0.83[CEU][hapmap]
rs172423	0.84[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17720530	1.00[CEU][hapmap]
rs211104	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs211105	0.84[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs211109	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2299626	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs7131255	0.83[CEU][hapmap]
rs7131454	0.82[CEU][hapmap]
rs7934091	0.83[CEU][hapmap]
rs7942794	0.83[CEU][hapmap]

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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs11024449	SAAL1	Cis_1M	lymphoblastoid	RTeQTL
rs11024449	SERGEF	cis	Adipose Subcutaneous	GTEx
rs11024449	SAAL1	cis	lung	GTEx
rs11024449	SAAL1	cis	Artery Tibial	GTEx
rs11024449	SAAL1	cis	parietal	SCAN
rs11024449	RP1-59M18.2	cis	Adipose Subcutaneous	GTEx
rs11024449	SAAL1	cis	cerebellum	SCAN
rs11024449	SAAL1	cis	lymphoblastoid	seeQTL
rs11024449	TPH1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18042600-18064600	Weak transcription	Aorta	Aorta

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