Variant report

Variant	rs17483533
Chromosome Location	chr9:71456297-71456298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10511965	0.84[AMR][1000 genomes]
rs10746925	0.80[AMR][1000 genomes]
rs10869327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10869422	0.83[MEX][hapmap]
rs11143793	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.99[ASN][1000 genomes]
rs11144167	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11999960	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12005037	0.82[CEU][hapmap]
rs12338444	0.80[ASN][1000 genomes]
rs12551225	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12553327	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12553357	0.81[AMR][1000 genomes]
rs12555750	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1537885	0.87[MEX][hapmap];0.83[TSI][hapmap]
rs17391162	0.83[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17391596	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17391840	0.80[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17392861	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17482181	0.81[GIH][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs17482797	0.80[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027204	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34483859	0.81[AMR][1000 genomes]
rs4120640	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4626674	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4745375	0.83[MEX][hapmap]
rs55671140	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55830509	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55845142	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60373811	0.84[ASN][1000 genomes]
rs61221055	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6560397	0.84[MEX][hapmap]
rs66460517	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66883415	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67047473	0.84[AMR][1000 genomes]
rs67457572	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7018552	0.87[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7037030	0.87[ASN][1000 genomes]
rs7044460	0.80[AMR][1000 genomes]
rs72717927	0.84[AMR][1000 genomes]
rs72717935	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717955	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720038	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73457664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871676	0.95[CEU][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7875396	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs883951	0.82[MKK][hapmap]
rs945575	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv6548	chr9:71429527-71470917	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17483533	PIP5K1B	cis	Artery Tibial	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71435800-71464800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:71438000-71491200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:71440600-71466600	Weak transcription	Gastric	stomach
4	chr9:71441000-71478600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:71441600-71459800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:71443600-71458600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr9:71443600-71459000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:71445600-71458600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:71448200-71485600	Weak transcription	Stomach Mucosa	stomach
10	chr9:71449200-71459200	Weak transcription	Primary B cells from cord blood	blood
11	chr9:71449800-71456800	Weak transcription	Fetal Intestine Small	intestine
12	chr9:71452000-71458400	Weak transcription	Spleen	Spleen
13	chr9:71452200-71456400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr9:71452200-71456800	Weak transcription	Right Atrium	heart
15	chr9:71452200-71456800	Weak transcription	Right Ventricle	heart
16	chr9:71452200-71458000	Weak transcription	Lung	lung
17	chr9:71453800-71458600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:71454800-71456800	Weak transcription	Left Ventricle	heart
19	chr9:71455600-71456800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr9:71455800-71457200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr9:71455800-71459400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr9:71456000-71456800	Weak transcription	Aorta	Aorta
23	chr9:71456000-71457800	Weak transcription	Fetal Intestine Large	intestine
24	chr9:71456000-71458000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr9:71456000-71458000	Enhancers	GM12878-XiMat	blood
26	chr9:71456200-71456600	Enhancers	Fetal Heart	heart

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