Variant report

Variant	rs2803244
Chromosome Location	chr1:63354972-63354973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10493328	0.86[CEU][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs10493329	0.80[CEU][hapmap]
rs10889377	0.80[CEU][hapmap]
rs10889378	0.80[CEU][hapmap]
rs10889379	0.80[CEU][hapmap]
rs10889381	0.80[CEU][hapmap]
rs11208029	0.86[CEU][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs11208030	0.86[CEU][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs11208031	0.86[CEU][hapmap]
rs11208033	0.85[CEU][hapmap]
rs11208034	0.92[CEU][hapmap]
rs11208039	0.86[CEU][hapmap]
rs11208041	0.86[CEU][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap]
rs11208042	0.80[CEU][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap]
rs11208044	0.80[EUR][1000 genomes]
rs11208048	0.84[EUR][1000 genomes]
rs11208054	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208055	0.86[EUR][1000 genomes]
rs12061691	0.86[EUR][1000 genomes]
rs12066108	0.86[EUR][1000 genomes]
rs12066524	0.80[EUR][1000 genomes]
rs12067646	0.80[CEU][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap]
rs12085400	0.85[MEX][hapmap]
rs12085401	0.80[EUR][1000 genomes]
rs12090494	0.86[CEU][hapmap]
rs12097658	0.86[CEU][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs12122041	0.93[CEU][hapmap]
rs12125986	0.83[EUR][1000 genomes]
rs12135672	0.80[EUR][1000 genomes]
rs12136636	0.86[EUR][1000 genomes]
rs17123817	0.80[CEU][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap]
rs17123830	0.80[CEU][hapmap]
rs17123896	0.80[CEU][hapmap]
rs17123899	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs17316198	1.00[ASN][1000 genomes]
rs17388170	0.86[CEU][hapmap];0.93[MEX][hapmap]
rs1927484	0.86[CEU][hapmap]
rs3737891	0.86[CEU][hapmap];0.86[MEX][hapmap]
rs4370785	0.85[CEU][hapmap]
rs4409690	0.86[CEU][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap]
rs4457613	0.86[CEU][hapmap]
rs55954926	0.80[EUR][1000 genomes]
rs6587988	0.80[CEU][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap]
rs943696	0.84[CEU][hapmap]

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	nsv830015	chr1:63261143-63455296	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2803244	DOCK7	Cis_1M	lymphoblastoid	RTeQTL
rs2803244	ATG4C	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63350600-63357000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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