Variant report

Variant	rs4670691
Chromosome Location	chr2:37565276-37565277
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37550944..37553103-chr2:37564333..37566233,2	K562	blood:

Variant related genes	Relation type
ENSG00000232028	Chromatin interaction
ENSG00000115825	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10177970	0.93[EUR][1000 genomes]
rs10178975	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11124575	0.93[EUR][1000 genomes]
rs12611683	0.85[EUR][1000 genomes]
rs12712530	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13409250	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1861444	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2041837	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2041840	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2110962	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2110964	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2160392	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160393	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2160395	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2249965	0.81[ASN][1000 genomes]
rs2300880	0.83[ASN][1000 genomes]
rs2372888	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2372990	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2372992	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2430494	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2540977	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2714470	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3902740	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4670193	0.83[ASN][1000 genomes]
rs4670678	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4670686	0.83[ASN][1000 genomes]
rs4670687	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4670690	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6544065	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6544067	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730503	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742641	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579990	0.83[EUR][1000 genomes]
rs7593932	0.85[EUR][1000 genomes]
rs759461	0.88[EUR][1000 genomes]
rs7601628	0.87[EUR][1000 genomes]
rs7602924	0.82[EUR][1000 genomes]
rs7605677	0.83[ASN][1000 genomes]
rs8243	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4670691	PRKD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37564400-37565600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:37564400-37565800	Enhancers	Placenta	Placenta
3	chr2:37564800-37565600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:37565000-37565600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr2:37565000-37565800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:37565000-37566200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:37565000-37566400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:37565000-37566400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:37565200-37570600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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