Variant report

Variant	rs633846
Chromosome Location	chr1:216151591-216151592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10495012	0.88[CHB][hapmap]
rs10864214	0.87[CHB][hapmap]
rs10864215	0.94[CHB][hapmap]
rs11120697	0.88[CHB][hapmap]
rs11120698	0.88[CHB][hapmap];0.89[CHD][hapmap]
rs11120699	0.88[CHB][hapmap]
rs12034100	0.80[CHB][hapmap]
rs1347629	0.81[CHB][hapmap]
rs1436783	0.81[EUR][1000 genomes]
rs1836937	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1934423	0.88[CHB][hapmap];0.86[CHD][hapmap]
rs2365632	0.88[CHB][hapmap];0.83[CHD][hapmap]
rs2576002	0.89[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs3845529	0.82[CHB][hapmap];0.97[CHD][hapmap];0.81[ASN][1000 genomes]
rs3908469	0.88[CHB][hapmap]
rs4100655	0.82[CHB][hapmap];0.97[CHD][hapmap];0.81[ASN][1000 genomes]
rs4655437	0.82[CHB][hapmap];0.97[CHD][hapmap];0.83[ASN][1000 genomes]
rs479826	0.89[MEX][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs480751	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs492474	0.82[CHB][hapmap]
rs498911	0.82[CHB][hapmap]
rs513746	0.82[CHB][hapmap]
rs517577	0.82[CHB][hapmap]
rs542423	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs574878	0.86[EUR][1000 genomes]
rs606653	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs646576	0.82[CHB][hapmap]
rs647908	0.82[CHB][hapmap]
rs662355	0.82[CHB][hapmap]
rs6661521	0.88[CHB][hapmap];0.83[CHD][hapmap]
rs6665202	0.87[CHB][hapmap]
rs687019	0.84[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs772713	0.82[CHB][hapmap]
rs942837	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832548	chr1:215987089-216175724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv428599	chr1:216086224-216267211	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1844934	chr1:216132878-216179889	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873172	chr1:216144827-216281673	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs633846	LQK1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216150400-216166200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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