Variant report

Variant	rs1933612
Chromosome Location	chr1:209342622-209342623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11586407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586451	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12722814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12755287	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933610	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1933619	0.82[ASN][1000 genomes]
rs2250701	0.86[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap]
rs2489651	0.82[ASN][1000 genomes]
rs2788161	0.82[ASN][1000 genomes]
rs2788162	0.82[ASN][1000 genomes]
rs2788168	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2788170	0.82[ASN][1000 genomes]
rs2970555	0.82[ASN][1000 genomes]
rs2970556	0.82[ASN][1000 genomes]
rs2996688	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34523921	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34944110	0.80[AMR][1000 genomes]
rs4402132	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4518909	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6658956	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672407	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66763810	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6678963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6704132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71636106	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[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	nsv522816	chr1:209325038-209342622	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1933612	NUCKS1	cis	cerebellum	SCAN
rs1933612	C1orf116	cis	cerebellum	SCAN
rs1933612	FGFBP2	trans	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209336000-209350400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:209341400-209342800	Enhancers	HSMM	muscle
3	chr1:209341400-209343000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:209342000-209345800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:209342200-209345600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:209342400-209345400	Weak transcription	NHEK	skin
7	chr1:209342600-209342800	Enhancers	Fetal Lung	lung
8	chr1:209342600-209345400	Weak transcription	HMEC	breast

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