Variant report

Variant	rs17657363
Chromosome Location	chr1:171801416-171801417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1045456	0.88[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10489252	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs10913683	0.91[EUR][1000 genomes]
rs10913684	0.91[EUR][1000 genomes]
rs12091786	0.94[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12565176	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs12730717	0.91[EUR][1000 genomes]
rs12742601	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12750330	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12753043	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17596025	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs17596081	0.88[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs17649609	0.88[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs17650310	0.88[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs17650340	0.91[EUR][1000 genomes]
rs1801898	0.88[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2143369	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2181216	0.88[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs2223602	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2232807	0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2232813	0.91[EUR][1000 genomes]
rs2232819	0.88[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs2232824	0.88[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2232825	0.88[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2294718	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs236894	0.88[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap]
rs236899	0.88[CEU][hapmap]
rs236907	0.88[CEU][hapmap]
rs34320898	0.91[EUR][1000 genomes]
rs34627492	0.81[EUR][1000 genomes]
rs35249022	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35400839	0.91[EUR][1000 genomes]
rs35631282	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35674909	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35882887	0.91[EUR][1000 genomes]
rs35930163	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36080557	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3891278	0.91[EUR][1000 genomes]
rs55732843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56365362	0.91[EUR][1000 genomes]
rs56377810	0.91[EUR][1000 genomes]
rs61807979	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6656852	0.91[EUR][1000 genomes]
rs6674364	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs6675708	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs6681322	0.94[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6687624	0.90[JPT][hapmap]
rs6689125	0.93[EUR][1000 genomes]
rs6695933	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7522582	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7536142	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17657363	DNM3	cis	Skin Sun Exposed Lower leg	GTEx
rs17657363	MAEL	cis	parietal	SCAN
rs17657363	MAEL	cis	cerebellum	SCAN
rs17657363	VAMP4	cis	cerebellum	SCAN
rs17657363	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL
rs17657363	METTL13	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171796400-171809800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:171796600-171810000	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links