Variant report

Variant	rs11139433
Chromosome Location	chr9:70971465-70971466
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr9:70971410-70971657	GM12878	blood:	n/a	n/a
2	POU2F2	chr9:70971067-70971583	GM12878	blood:	n/a	n/a
3	SUZ12	chr9:70971330-70972245	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr9:70971290-70971469	GM12878	blood:	n/a	n/a
5	PAX5	chr9:70971431-70971820	GM12878	blood:	n/a	n/a
6	EBF1	chr9:70971454-70971818	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:70971205-70971560	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL353608.1-2	chr9:70970081-70972081	NONHSAT131739

Variant related genes	Relation type
PGM5	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11140134	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11140670	0.83[AMR][1000 genomes]
rs11141556	0.83[AFR][1000 genomes]
rs11141974	0.83[AFR][1000 genomes]
rs11141997	0.83[AFR][1000 genomes]
rs389140	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs450885	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs647899	0.83[AMR][1000 genomes];0.85[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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:70970800-70972200	Active TSS	Aorta	Aorta
2	chr9:70970800-70973800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:70970800-70974000	Active TSS	Rectal Smooth Muscle	rectum
4	chr9:70970800-70974600	Active TSS	Stomach Smooth Muscle	stomach
5	chr9:70970800-70975000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr9:70971000-70972200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:70971000-70972400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:70971000-70972400	Active TSS	NHDF-Ad	bronchial
9	chr9:70971000-70972800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:70971000-70972800	Active TSS	Colon Smooth Muscle	Colon
11	chr9:70971000-70973000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:70971000-70973000	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr9:70971000-70973200	Active TSS	Fetal Lung	lung
14	chr9:70971000-70973200	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr9:70971000-70973400	Active TSS	HSMMtube	muscle
16	chr9:70971000-70973800	Active TSS	Fetal Kidney	kidney
17	chr9:70971000-70974200	Active TSS	Right Atrium	heart
18	chr9:70971200-70971600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr9:70971200-70972200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:70971200-70972200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:70971200-70972400	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
22	chr9:70971200-70972600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
23	chr9:70971200-70972800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
24	chr9:70971200-70973000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:70971200-70973000	Active TSS	Adipose Nuclei	Adipose
26	chr9:70971200-70973200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:70971200-70973400	Active TSS	Left Ventricle	heart
28	chr9:70971200-70974200	Active TSS	Fetal Stomach	stomach
29	chr9:70971400-70971600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:70971400-70971600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:70971400-70971600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:70971400-70971600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:70971400-70971800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
34	chr9:70971400-70971800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr9:70971400-70971800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
36	chr9:70971400-70971800	Active TSS	Placenta	Placenta
37	chr9:70971400-70971800	Bivalent/Poised TSS	HMEC	breast
38	chr9:70971400-70972000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:70971400-70972000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:70971400-70972000	Active TSS	Primary hematopoietic stem cells	blood
41	chr9:70971400-70972000	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
42	chr9:70971400-70972000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:70971400-70972000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:70971400-70972000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:70971400-70972000	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr9:70971400-70972000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr9:70971400-70972000	Active TSS	Pancreas	Pancrea
48	chr9:70971400-70972000	Bivalent/Poised TSS	Thymus	Thymus
49	chr9:70971400-70972000	Bivalent/Poised TSS	A549	lung
50	chr9:70971400-70972000	Bivalent/Poised TSS	NH-A	brain

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