Variant report

Variant	rs424970
Chromosome Location	chr9:71113835-71113836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10780985	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964619	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309312	0.92[EUR][1000 genomes]
rs265081	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372581	1.00[JPT][hapmap]
rs4406476	1.00[JPT][hapmap]
rs4744621	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56320925	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6560175	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716013	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7849742	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7854357	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7862888	0.81[CEU][hapmap]
rs7864227	0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902949	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928049	0.95[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv427847	chr9:70318730-71153527	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs424970	PGM5	cis	Whole Blood	GTEx
rs424970	PGM5	cis	multi-tissue	Pritchard
rs424970	PGM5	cis	cerebellum	SCAN
rs424970	RP11-274B18.2	cis	Whole Blood	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71092200-71115400	Weak transcription	Psoas Muscle	Psoas
2	chr9:71102200-71121000	Weak transcription	Fetal Kidney	kidney
3	chr9:71103600-71122000	Weak transcription	Ovary	ovary
4	chr9:71103800-71114000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:71104400-71114000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:71109000-71114000	Weak transcription	Right Ventricle	heart
7	chr9:71109400-71114600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:71109400-71114800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr9:71109400-71120600	Weak transcription	Adipose Nuclei	Adipose
10	chr9:71109600-71114400	Weak transcription	NHLF	lung
11	chr9:71109600-71115200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:71109800-71114200	Weak transcription	Aorta	Aorta
13	chr9:71109800-71115200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:71110000-71120600	Weak transcription	Gastric	stomach
15	chr9:71110200-71114800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:71111400-71114200	Weak transcription	Left Ventricle	heart
17	chr9:71111400-71114800	Weak transcription	NHDF-Ad	bronchial
18	chr9:71111400-71115200	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:71111400-71115800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:71111600-71114600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr9:71111600-71115400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:71112000-71115200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr9:71112400-71114000	Enhancers	HSMMtube	muscle
24	chr9:71112400-71114600	Weak transcription	Fetal Heart	heart
25	chr9:71112600-71114200	Strong transcription	Colon Smooth Muscle	Colon
26	chr9:71113000-71114200	Weak transcription	Right Atrium	heart
27	chr9:71113200-71120600	Weak transcription	Fetal Intestine Large	intestine
28	chr9:71113600-71114400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:71113600-71115000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr9:71113600-71116200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr9:71113600-71120200	Strong transcription	Fetal Stomach	stomach
32	chr9:71113800-71115200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr9:71113800-71116000	Strong transcription	Fetal Lung	lung

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