Variant report

Variant	rs1363862
Chromosome Location	chr5:59670035-59670036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:59670032-59670843	SK-N-SH	brain:	n/a	n/a
2	EP300	chr5:59669404-59671189	SK-N-SH	brain:	n/a	chr5:59670552-59670566

Variant related genes	Relation type
PDE4D	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1115372	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12189147	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13159422	0.84[CEU][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1423246	0.95[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1423247	0.89[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1477352	0.93[ASN][1000 genomes]
rs17839379	0.84[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2042315	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2910629	0.84[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs364917	0.90[JPT][hapmap]
rs371424	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs37684	0.85[JPT][hapmap]
rs37691	0.90[JPT][hapmap]
rs401207	0.89[JPT][hapmap]
rs404202	0.85[JPT][hapmap]
rs411255	0.84[JPT][hapmap]
rs446883	0.85[JPT][hapmap]
rs4580739	0.90[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6860277	0.80[YRI][hapmap]
rs6860887	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6878055	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6897671	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs7714394	0.91[CEU][hapmap]
rs7737905	0.90[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs789389	0.90[JPT][hapmap]
rs789395	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs789396	0.90[JPT][hapmap]
rs789615	0.90[JPT][hapmap]
rs918590	0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs918591	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs918592	0.81[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59647200-59694200	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59650400-59674800	Weak transcription	Aorta	Aorta
3	chr5:59662600-59680200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:59667800-59670800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:59668000-59670400	Enhancers	HepG2	liver

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