Variant report

Variant	rs1607395
Chromosome Location	chr11:18049736-18049737
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	chr11:18047843..18050267-chr11:18056135..18057672,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10741734	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10766446	0.81[EUR][1000 genomes]
rs10832872	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10832874	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024446	0.89[EUR][1000 genomes]
rs11603299	0.96[CEU][hapmap]
rs12292490	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs1401163	0.89[EUR][1000 genomes]
rs1401164	0.89[EUR][1000 genomes]
rs1401166	0.91[CEU][hapmap]
rs1468291	0.96[CEU][hapmap]
rs1518521	0.80[EUR][1000 genomes]
rs1518522	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs169806	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17793542	0.96[CEU][hapmap];0.82[CHB][hapmap]
rs1799913	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1800532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2041244	0.81[EUR][1000 genomes]
rs2056246	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071532	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2097816	0.96[CEU][hapmap]
rs211095	0.96[CEU][hapmap]
rs211096	0.96[CEU][hapmap]
rs211106	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs211107	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs211108	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs211140	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs211141	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs211144	0.80[EUR][1000 genomes]
rs211146	0.96[CEU][hapmap]
rs211148	0.96[CEU][hapmap]
rs2191091	0.96[CEU][hapmap]
rs2237907	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237908	0.94[EUR][1000 genomes]
rs2237909	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2237911	0.80[EUR][1000 genomes]
rs2237913	0.96[CEU][hapmap]
rs2237914	0.96[CEU][hapmap]
rs2237915	0.96[CEU][hapmap]
rs2237916	0.96[CEU][hapmap]
rs2237917	0.96[CEU][hapmap]
rs2283233	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2283235	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2299625	0.89[EUR][1000 genomes]
rs2299628	0.96[CEU][hapmap]
rs2670765	1.00[CEU][hapmap]
rs4141243	0.96[CEU][hapmap]
rs4393297	0.96[CEU][hapmap]
rs508924	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs517005	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs544437	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs546383	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs572940	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs593839	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs652458	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs654734	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs684302	0.96[CEU][hapmap];0.83[CHB][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs685249	0.85[AMR][1000 genomes]
rs685657	0.87[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72862028	0.88[EUR][1000 genomes]
rs728639	0.96[CEU][hapmap]
rs739916	0.96[CEU][hapmap]
rs7927135	0.81[EUR][1000 genomes]
rs7933505	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs887242	0.88[EUR][1000 genomes]
rs916975	0.96[CEU][hapmap]
rs9787863	0.81[EUR][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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1607395	SERGEF	cis	Muscle Skeletal	GTEx
rs1607395	SERGEF	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18042600-18064600	Weak transcription	Aorta	Aorta
2	chr11:18049200-18050000	Enhancers	Dnd41	blood

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