Variant report

Variant	rs12685375
Chromosome Location	chr9:71114312-71114313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12379560	0.86[AMR][1000 genomes]
rs265080	0.82[JPT][hapmap]
rs4745093	0.82[GIH][hapmap]
rs7039076	0.82[JPT][hapmap];0.91[YRI][hapmap]
rs7874438	0.91[YRI][hapmap]
rs923784	0.82[JPT][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12685375	PGM5	cis	multi-tissue	Pritchard

Chromatin state (count:36 , 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	chr9:71109400-71114600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:71109400-71114800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr9:71109400-71120600	Weak transcription	Adipose Nuclei	Adipose
7	chr9:71109600-71114400	Weak transcription	NHLF	lung
8	chr9:71109600-71115200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:71109800-71115200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:71110000-71120600	Weak transcription	Gastric	stomach
11	chr9:71110200-71114800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:71111400-71114800	Weak transcription	NHDF-Ad	bronchial
13	chr9:71111400-71115200	Weak transcription	Fetal Muscle Leg	muscle
14	chr9:71111400-71115800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:71111600-71114600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr9:71111600-71115400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:71112000-71115200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:71112400-71114600	Weak transcription	Fetal Heart	heart
19	chr9:71113200-71120600	Weak transcription	Fetal Intestine Large	intestine
20	chr9:71113600-71114400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:71113600-71115000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr9:71113600-71116200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:71113600-71120200	Strong transcription	Fetal Stomach	stomach
24	chr9:71113800-71115200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:71113800-71116000	Strong transcription	Fetal Lung	lung
26	chr9:71114000-71114600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:71114000-71114800	Flanking Active TSS	HSMMtube	muscle
28	chr9:71114000-71116200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:71114200-71114400	Enhancers	Lung	lung
30	chr9:71114200-71114400	Genic enhancers	Right Ventricle	heart
31	chr9:71114200-71114400	Enhancers	Small Intestine	intestine
32	chr9:71114200-71115400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr9:71114200-71116000	Enhancers	Aorta	Aorta
34	chr9:71114200-71116200	Genic enhancers	Left Ventricle	heart
35	chr9:71114200-71116800	Genic enhancers	Colon Smooth Muscle	Colon
36	chr9:71114200-71116800	Enhancers	Right Atrium	heart

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