Variant report

Variant	rs2972427
Chromosome Location	chr5:68131023-68131024
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68129992..68132424-chr5:68137163..68138732,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10039488	0.95[EUR][1000 genomes]
rs10039512	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10041293	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10056434	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10056855	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10067045	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10076002	0.96[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap]
rs10076159	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs10077547	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10471758	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10940179	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10940180	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10940181	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10940182	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12153013	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12234010	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13165901	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1427906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1427907	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1582897	0.86[EUR][1000 genomes]
rs1820643	0.86[EUR][1000 genomes]
rs2888407	0.86[EUR][1000 genomes]
rs2913280	0.85[EUR][1000 genomes]
rs2913285	0.86[EUR][1000 genomes]
rs2913286	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913287	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913288	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2913289	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913290	0.95[EUR][1000 genomes]
rs2913291	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913292	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913293	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2913294	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972421	0.86[EUR][1000 genomes]
rs2972426	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972428	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3097142	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112432	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246758	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4246760	0.84[EUR][1000 genomes]
rs4280829	0.85[EUR][1000 genomes]
rs4418057	0.81[EUR][1000 genomes]
rs4541611	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4626296	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4976051	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6869950	0.84[EUR][1000 genomes]
rs6877035	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs6887308	0.87[CEU][hapmap]
rs7702480	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715545	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7737876	0.84[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2972427	PIK3R1	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68128400-68131400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:68130200-68131200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:68130200-68131200	Enhancers	Adipose Nuclei	Adipose
4	chr5:68130200-68131400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:68130200-68131400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:68130400-68131200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:68130400-68132600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr5:68130600-68131200	Enhancers	HSMMtube	muscle
9	chr5:68130600-68131800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:68130600-68132200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:68130800-68131200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:68130800-68131200	Weak transcription	Placenta	Placenta
13	chr5:68130800-68131400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:68131000-68131400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:68131000-68132400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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