Variant report

Variant	rs67047473
Chromosome Location	chr9:71382878-71382879
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71382624..71385471-chr9:71389854..71391837,2	K562	blood:
2	chr9:71375478..71379084-chr9:71380642..71383011,4	K562	blood:
3	chr9:71376900..71379084-chr9:71381284..71383011,2	K562	blood:
4	chr9:71382779..71384863-chr9:71399277..71400843,2	MCF-7	breast:
5	chr9:71381625..71383814-chr9:71394879..71397265,2	K562	blood:

Variant related genes	Relation type
ENSG00000187866	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10511965	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10735625	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10746925	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11999960	0.84[AMR][1000 genomes]
rs12345874	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12551225	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12555750	0.82[EUR][1000 genomes]
rs1537885	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17391162	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17391596	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17391840	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17392861	0.84[AMR][1000 genomes]
rs17482181	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17482797	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17483533	0.84[AMR][1000 genomes]
rs4120640	0.84[AMR][1000 genomes]
rs55671140	0.84[AMR][1000 genomes]
rs58220469	0.89[ASN][1000 genomes]
rs58384767	0.81[AMR][1000 genomes]
rs59031138	0.93[ASN][1000 genomes]
rs59550441	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61221055	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66460517	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66883415	0.81[AMR][1000 genomes]
rs67457572	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7018552	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7031263	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7044460	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7049222	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72717927	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72717935	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717955	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73457664	0.84[AMR][1000 genomes]
rs945575	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950785	0.89[ASN][1000 genomes]
rs952590	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs972058	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs972059	0.83[AMR][1000 genomes];0.88[EUR][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	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67047473	PIP5K1B	cis	Artery Tibial	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71371200-71384600	Weak transcription	Stomach Mucosa	stomach
2	chr9:71374000-71388800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:71376400-71383000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:71378000-71388400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:71378400-71394200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:71378800-71393800	Weak transcription	Primary B cells from cord blood	blood
7	chr9:71378800-71393800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr9:71379000-71386000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:71379000-71389000	Weak transcription	K562	blood
10	chr9:71380800-71383000	Weak transcription	Fetal Heart	heart
11	chr9:71382600-71383600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:71382600-71383800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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