Variant report

Variant	rs2860101
Chromosome Location	chr9:71103406-71103407
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71103333..71104874-chr9:71115669..71118300,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10465187	0.81[EUR][1000 genomes]
rs11142714	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1158127	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap]
rs12552415	1.00[JPT][hapmap]
rs7019089	0.80[EUR][1000 genomes]
rs72714330	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714393	0.84[AMR][1000 genomes];1.00[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2860101	PGM5	cis	multi-tissue	Pritchard

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71087400-71107200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:71092200-71115400	Weak transcription	Psoas Muscle	Psoas
3	chr9:71096600-71108600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:71101400-71107200	Weak transcription	Fetal Stomach	stomach
5	chr9:71101800-71104200	Strong transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:71101800-71105000	Weak transcription	Fetal Intestine Large	intestine
7	chr9:71101800-71113600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:71102000-71104800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:71102000-71107800	Weak transcription	Esophagus	oesophagus
10	chr9:71102000-71109000	Weak transcription	NHLF	lung
11	chr9:71102200-71105800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr9:71102200-71121000	Weak transcription	Fetal Kidney	kidney
13	chr9:71102400-71110800	Weak transcription	Fetal Muscle Leg	muscle
14	chr9:71102400-71111200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr9:71102800-71103800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:71102800-71104800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr9:71103000-71103600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr9:71103000-71107400	Weak transcription	Right Atrium	heart
19	chr9:71103200-71103600	Genic enhancers	Aorta	Aorta
20	chr9:71103200-71103600	Genic enhancers	Fetal Lung	lung
21	chr9:71103200-71103600	Enhancers	Ovary	ovary
22	chr9:71103200-71104000	Genic enhancers	Left Ventricle	heart
23	chr9:71103400-71103600	Strong transcription	Fetal Heart	heart
24	chr9:71103400-71103600	Genic enhancers	Right Ventricle	heart
25	chr9:71103400-71104000	Strong transcription	Colon Smooth Muscle	Colon
26	chr9:71103400-71104200	Enhancers	Spleen	Spleen
27	chr9:71103400-71104200	Strong transcription	HSMMtube	muscle
28	chr9:71103400-71104400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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