Variant report

Variant	rs11172026
Chromosome Location	chr12:57268261-57268262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10876942	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172003	0.95[ASN][1000 genomes]
rs11172021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11172022	0.95[ASN][1000 genomes]
rs11172038	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11172046	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11613486	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4237807	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4415812	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4435043	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4477472	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4759035	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.92[MKK][hapmap];0.84[TSI][hapmap];0.80[YRI][hapmap]
rs4759260	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4759261	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759262	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4759266	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61937853	0.97[ASN][1000 genomes]
rs7295197	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7307358	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7311658	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7954692	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11172026	GPR84	cis	parietal	SCAN
rs11172026	KRT80	cis	cerebellum	SCAN
rs11172026	NCKAP1L	cis	parietal	SCAN
rs11172026	RDH16	cis	cerebellum	SCAN
rs11172026	TENC1	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57265400-57270000	Weak transcription	Liver	Liver
2	chr12:57267400-57274200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:57267600-57268600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:57268000-57269400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:57268200-57269200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:57268200-57269400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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