Variant report

Variant	rs945575
Chromosome Location	chr9:71392197-71392198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71360620..71364939-chr9:71391141..71394857,5	K562	blood:
2	chr9:71316561..71319400-chr9:71390897..71393133,2	K562	blood:
3	chr9:71317900..71319915-chr9:71391633..71393560,2	K562	blood:
4	chr9:71390215..71393175-chr9:71408433..71409952,2	K562	blood:
5	chr9:71378628..71380884-chr9:71390829..71393225,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10511965	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10735625	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10746925	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11999960	0.80[AMR][1000 genomes]
rs12345874	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12551225	0.84[EUR][1000 genomes]
rs12555750	0.83[EUR][1000 genomes]
rs1537885	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17391162	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17391596	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17391840	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17392861	0.80[AMR][1000 genomes]
rs17482181	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17482797	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17483533	0.80[AMR][1000 genomes]
rs4120640	0.80[AMR][1000 genomes]
rs55671140	0.80[AMR][1000 genomes]
rs58220469	0.89[ASN][1000 genomes]
rs58384767	0.82[AMR][1000 genomes]
rs59031138	0.93[ASN][1000 genomes]
rs59550441	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61221055	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66460517	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67047473	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67457572	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7018552	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7031263	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7044460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7049222	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72717927	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72717935	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717955	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73457664	0.80[AMR][1000 genomes]
rs950785	0.89[ASN][1000 genomes]
rs952590	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs972058	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs972059	0.87[AMR][1000 genomes];0.89[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
rs945575	PIP5K1B	cis	Artery Tibial	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71378400-71394200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:71378800-71393800	Weak transcription	Primary B cells from cord blood	blood
3	chr9:71378800-71393800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr9:71383600-71393800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr9:71383800-71393600	Weak transcription	Left Ventricle	heart
6	chr9:71384000-71394200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:71385600-71393800	Weak transcription	Small Intestine	intestine
8	chr9:71385800-71393400	Weak transcription	Fetal Intestine Small	intestine
9	chr9:71385800-71393800	Weak transcription	Right Ventricle	heart
10	chr9:71386200-71393600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:71386600-71393200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:71387000-71394200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:71387200-71393800	Weak transcription	Fetal Intestine Large	intestine
14	chr9:71389200-71393800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:71389600-71393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:71390400-71394400	Weak transcription	Aorta	Aorta
17	chr9:71390600-71394000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:71390800-71392200	Weak transcription	K562	blood
19	chr9:71391000-71392800	Enhancers	Fetal Heart	heart
20	chr9:71391200-71394200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:71391400-71392200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr9:71391600-71392200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:71391600-71392600	Enhancers	NHEK	skin
24	chr9:71392000-71392600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:71392000-71392800	Enhancers	Stomach Mucosa	stomach

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