Variant report

Variant	rs10511965
Chromosome Location	chr9:71378166-71378167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71362860..71364586-chr9:71376737..71378891,2	K562	blood:
2	chr9:71376900..71379084-chr9:71381284..71383011,2	K562	blood:
3	chr9:71373445..71377242-chr9:71377626..71380555,4	K562	blood:
4	chr9:71375478..71379084-chr9:71380642..71383011,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10735625	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10746925	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11999960	0.84[AMR][1000 genomes]
rs12345874	0.82[EUR][1000 genomes]
rs12551225	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12555750	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1537885	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17391162	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17391596	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17391840	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17392861	0.84[AMR][1000 genomes]
rs17482181	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17482797	0.83[AMR][1000 genomes]
rs17483533	0.84[AMR][1000 genomes]
rs4120640	0.84[AMR][1000 genomes]
rs55671140	0.84[AMR][1000 genomes]
rs59550441	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61221055	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66460517	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66883415	0.80[AMR][1000 genomes]
rs67047473	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67457572	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7018552	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7031263	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7044460	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7049222	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72717927	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72717935	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72717955	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72720038	0.80[AMR][1000 genomes]
rs73457664	0.84[AMR][1000 genomes]
rs945575	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs952590	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs972058	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs972059	0.81[AMR][1000 genomes];0.87[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
rs10511965	PIP5K1B	cis	Artery Tibial	GTEx

Chromatin state (count:14 , 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	chr9:71376400-71378200	Enhancers	GM12878-XiMat	blood
4	chr9:71376400-71380400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr9:71376400-71383000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:71377400-71378200	Enhancers	Primary B cells from cord blood	blood
7	chr9:71377400-71380800	Enhancers	Fetal Heart	heart
8	chr9:71377600-71378800	Enhancers	Primary B cells from peripheral blood	blood
9	chr9:71377800-71378200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr9:71377800-71378200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:71377800-71378600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:71377800-71379000	Enhancers	K562	blood
13	chr9:71378000-71379000	Enhancers	Primary hematopoietic stem cells	blood
14	chr9:71378000-71388400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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