Variant report

Variant	rs8065126
Chromosome Location	chr17:38099035-38099036
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	chr17:38098844..38100941-chr17:38101292..38104477,4	K562	blood:
2	chr17:37908772..37911030-chr17:38098767..38100390,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1007654	0.92[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1007655	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11869855	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1563103	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17609240	0.94[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2001476	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2313640	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28618095	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3848395	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3893044	0.89[YRI][hapmap]
rs3902024	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3931960	0.86[ASN][1000 genomes]
rs4065985	0.89[YRI][hapmap]
rs4134501	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4458030	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55860944	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56301252	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56396280	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60667221	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62068174	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62068175	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62068176	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62068177	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62068178	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62068179	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62068180	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62068181	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62068182	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62068183	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62068184	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6503527	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7207600	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7209742	0.81[CHB][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7218321	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7218742	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7219080	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7223318	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8068522	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8071050	0.87[ASN][1000 genomes]
rs8076474	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8081437	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9889711	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9889716	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9895948	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs8065126	PCGF2	cis	cerebellum	SCAN
rs8065126	GSDMA	cis	lung	GTEx
rs8065126	KRT222	cis	cerebellum	SCAN
rs8065126	GSDMA	cis	Artery Tibial	GTEx
rs8065126	MED24	cis	parietal	SCAN
rs8065126	GSDMB	cis	cerebellum	SCAN
rs8065126	GSDMA	cis	Artery Aorta	GTEx
rs8065126	GSDMA	cis	Adipose Subcutaneous	GTEx
rs8065126	MED24	cis	cerebellum	SCAN
rs8065126	GSDMA	cis	Thyroid	GTEx
rs8065126	KRTAP4-2	cis	parietal	SCAN
rs8065126	PSMD3	cis	parietal	SCAN
rs8065126	GSDMA	cis	Esophagus Muscularis	GTEx
rs8065126	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs8065126	GSDMA	cis	Nerve Tibial	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38094800-38100200	Weak transcription	Right Ventricle	heart
2	chr17:38096000-38104800	Weak transcription	Stomach Mucosa	stomach
3	chr17:38096400-38100000	Weak transcription	Primary B cells from cord blood	blood
4	chr17:38096400-38100200	Weak transcription	Left Ventricle	heart
5	chr17:38096400-38108400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr17:38096600-38099200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr17:38096600-38100000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr17:38096600-38100000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:38097000-38100000	Weak transcription	Thymus	Thymus
10	chr17:38097000-38104000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr17:38097800-38099600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:38098000-38100000	Weak transcription	Fetal Thymus	thymus
13	chr17:38098800-38099400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:38099000-38099600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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