Variant report

Variant	rs952590
Chromosome Location	chr9:71385551-71385552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71385067..71387195-chr9:71393160..71396104,2	K562	blood:

Variant related genes	Relation type
ENSG00000187866	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10511964	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10511965	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10735625	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10746925	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12345874	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1537885	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17391162	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17391596	0.82[CEU][hapmap]
rs17482181	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58384767	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59550441	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61221055	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66460517	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67047473	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67457572	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7018552	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7031263	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7044460	0.84[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7049222	0.87[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72717927	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7853795	0.84[AMR][1000 genomes]
rs7871676	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8114	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs945573	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs945575	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs972058	0.96[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs972059	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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	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
rs952590	PIP5K1B	cis	Artery Tibial	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71374000-71388800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:71378000-71388400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:71378400-71394200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:71378800-71393800	Weak transcription	Primary B cells from cord blood	blood
5	chr9:71378800-71393800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr9:71379000-71386000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:71379000-71389000	Weak transcription	K562	blood
8	chr9:71383000-71388800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:71383600-71393800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr9:71383800-71393600	Weak transcription	Left Ventricle	heart
11	chr9:71384000-71386400	Weak transcription	Fetal Heart	heart
12	chr9:71384000-71394200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:71384400-71386200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:71384600-71386400	Enhancers	Stomach Mucosa	stomach
15	chr9:71384600-71387200	Enhancers	Fetal Intestine Large	intestine
16	chr9:71385000-71386200	Enhancers	Placenta	Placenta
17	chr9:71385200-71385800	Genic enhancers	Fetal Intestine Small	intestine
18	chr9:71385400-71385600	ZNF genes & repeats	Lung	lung
19	chr9:71385400-71385800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:71385400-71385800	Enhancers	Right Ventricle	heart

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