Variant report

Variant	rs1330466
Chromosome Location	chr13:94559120-94559121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12876221	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1330467	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs1360300	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs1411501	0.88[CEU][hapmap]
rs1411511	0.96[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs17195813	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1854731	0.91[CEU][hapmap]
rs2150125	0.91[CEU][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs2183427	0.83[EUR][1000 genomes]
rs2183429	0.91[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs2389049	0.91[CEU][hapmap];0.81[TSI][hapmap]
rs34095369	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759424	0.91[CEU][hapmap]
rs4272893	0.82[EUR][1000 genomes]
rs61964368	0.84[EUR][1000 genomes]
rs6492681	0.84[EUR][1000 genomes]
rs7328659	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs7337988	0.88[CEU][hapmap]
rs7983687	0.83[EUR][1000 genomes]
rs7993741	0.87[EUR][1000 genomes]
rs7995578	0.87[EUR][1000 genomes]
rs8002684	0.91[CEU][hapmap]
rs9301908	0.91[CEU][hapmap]
rs9524260	0.91[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs9524273	0.87[EUR][1000 genomes]
rs9556335	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs9589863	0.91[EUR][1000 genomes]
rs991432	0.91[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs991595	0.91[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv933807	chr13:94187158-94845505	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1045230	chr13:94277683-94764671	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv948455	chr13:94451368-94988900	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1330466	DCT	cis	parietal	SCAN
rs1330466	GPC6	cis	Artery Aorta	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94557000-94560600	Weak transcription	Ovary	ovary
2	chr13:94558800-94559800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:94559000-94559200	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links