Variant report

Variant	rs718259
Chromosome Location	chr2:187630546-187630547
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10165992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1072901	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs12471718	0.90[ASN][1000 genomes]
rs12475476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12618322	0.89[CHB][hapmap]
rs12620821	0.88[CHB][hapmap]
rs13020260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1448427	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[EUR][1000 genomes]
rs17406346	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2012128	0.97[ASN][1000 genomes]
rs2012401	0.98[ASN][1000 genomes]
rs2121975	0.88[CHB][hapmap]
rs2121976	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2276562	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2290083	0.85[ASN][1000 genomes]
rs2595383	0.97[ASN][1000 genomes]
rs2595386	0.96[ASN][1000 genomes]
rs2595395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2682863	0.90[ASN][1000 genomes]
rs2682868	0.85[ASN][1000 genomes]
rs2682873	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3114941	0.97[ASN][1000 genomes]
rs3213964	0.88[CHB][hapmap]
rs34056045	0.82[ASN][1000 genomes]
rs34840521	0.83[EUR][1000 genomes]
rs35348196	0.83[EUR][1000 genomes]
rs35540241	0.85[EUR][1000 genomes]
rs3768781	0.84[CHB][hapmap]
rs3768785	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs3816375	0.88[CHB][hapmap]
rs3911238	0.84[CHB][hapmap]
rs41265951	0.83[ASN][1000 genomes]
rs4666713	0.93[JPT][hapmap]
rs4667107	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs4667108	0.88[CHB][hapmap]
rs4667112	0.85[ASN][1000 genomes]
rs4667113	0.86[ASN][1000 genomes]
rs55781198	0.86[EUR][1000 genomes]
rs56222785	0.81[EUR][1000 genomes]
rs62173041	0.89[ASN][1000 genomes]
rs62173044	0.91[EUR][1000 genomes]
rs62196185	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6705757	0.88[CHB][hapmap]
rs7585442	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs7585471	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs930657	0.88[CHB][hapmap]
rs9967663	0.89[ASN][1000 genomes]

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	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs718259	ZSWIM2	cis	cerebellar cortex	BrainEAC

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187599600-187631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:187612000-187636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:187613800-187634000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:187622600-187636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:187623000-187636200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:187627200-187631600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:187627200-187636800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:187627600-187633000	Weak transcription	Brain Angular Gyrus	brain
9	chr2:187627600-187634000	Weak transcription	Placenta	Placenta
10	chr2:187627600-187635200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:187628000-187635200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:187628600-187633200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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