Variant report

Variant	rs4246758
Chromosome Location	chr5:68142751-68142752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10039488	0.94[EUR][1000 genomes]
rs10039512	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10041293	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10056434	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10056855	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10067045	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10076002	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs10076159	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10077547	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10471758	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10940179	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10940180	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10940181	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10940182	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12153013	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12234010	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13165901	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1427906	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1427907	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1582897	0.84[EUR][1000 genomes]
rs1820643	0.84[EUR][1000 genomes]
rs2888407	0.84[EUR][1000 genomes]
rs2913280	0.83[EUR][1000 genomes]
rs2913285	0.84[EUR][1000 genomes]
rs2913286	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2913287	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2913288	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2913289	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2913290	0.94[EUR][1000 genomes]
rs2913291	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2913292	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2913293	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2913294	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972421	0.84[EUR][1000 genomes]
rs2972426	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972427	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972428	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3097142	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3112432	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4246760	0.83[EUR][1000 genomes]
rs4280829	0.84[EUR][1000 genomes]
rs4418057	0.80[EUR][1000 genomes]
rs4541611	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4626296	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4976051	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6869950	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6877035	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs6887308	0.92[CEU][hapmap]
rs7702480	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7715545	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7737876	0.84[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4246758	PIK3R1	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68133000-68142800	Weak transcription	Aorta	Aorta
2	chr5:68135400-68143400	Weak transcription	HMEC	breast
3	chr5:68135400-68143600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:68136800-68143400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:68139800-68143400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:68140400-68143400	Weak transcription	HSMM	muscle
7	chr5:68140600-68143400	Weak transcription	HSMMtube	muscle
8	chr5:68141600-68143400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:68141600-68143600	Weak transcription	NHDF-Ad	bronchial

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