Variant report

Variant	rs9787573
Chromosome Location	chr10:92783513-92783514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3852490	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3864854	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4933636	0.87[ASW][hapmap];0.85[CEU][hapmap];0.91[MEX][hapmap]
rs7897249	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831945	chr10:92590576-92793582	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv430255	chr10:92769660-92872941	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv430258	chr10:92770145-92817973	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv430256	chr10:92770145-92872941	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv430260	chr10:92778715-92821721	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv430259	chr10:92778715-92848304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9787573	ACTA2	cis	parietal	SCAN
rs9787573	LOC643599	cis	multi-tissue	Pritchard

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92780200-92784800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr10:92780200-92784800	Enhancers	Fetal Muscle Leg	muscle
3	chr10:92781000-92784600	Enhancers	Fetal Heart	heart
4	chr10:92781000-92784800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:92781200-92785800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:92781400-92783600	Enhancers	Fetal Muscle Trunk	muscle
7	chr10:92781400-92783600	Enhancers	Left Ventricle	heart
8	chr10:92781400-92783800	Enhancers	Brain Angular Gyrus	brain
9	chr10:92781400-92784400	Enhancers	HSMM	muscle
10	chr10:92781600-92783800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr10:92781600-92784600	Enhancers	Fetal Thymus	thymus
12	chr10:92781600-92784600	Enhancers	Ovary	ovary
13	chr10:92781600-92784800	Enhancers	Right Atrium	heart
14	chr10:92781800-92784800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:92782000-92784000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:92782000-92785000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:92782200-92784600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:92782400-92783800	Enhancers	Stomach Smooth Muscle	stomach
19	chr10:92782400-92784200	Weak transcription	Dnd41	blood
20	chr10:92782400-92784600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:92782400-92784600	Enhancers	Fetal Brain Male	brain
22	chr10:92782400-92784600	Enhancers	Fetal Stomach	stomach
23	chr10:92782400-92784800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr10:92782600-92783600	Bivalent Enhancer	NHDF-Ad	bronchial
25	chr10:92782600-92784400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:92782800-92783600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:92783000-92783600	Enhancers	Adipose Nuclei	Adipose
28	chr10:92783000-92783600	Enhancers	Gastric	stomach
29	chr10:92783000-92783600	Enhancers	NHLF	lung
30	chr10:92783000-92783800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:92783000-92783800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:92783000-92784000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:92783000-92784200	Weak transcription	Placenta	Placenta
34	chr10:92783000-92784400	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr10:92783000-92784600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:92783000-92784600	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr10:92783000-92784600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr10:92783200-92783600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:92783200-92783600	Enhancers	Brain Substantia Nigra	brain
40	chr10:92783200-92783600	Flanking Active TSS	Fetal Brain Female	brain
41	chr10:92783200-92783600	Flanking Active TSS	Osteobl	bone
42	chr10:92783200-92784200	Weak transcription	Colon Smooth Muscle	Colon
43	chr10:92783200-92784200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr10:92783200-92784400	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr10:92783200-92784600	Enhancers	Rectal Smooth Muscle	rectum
46	chr10:92783400-92783600	Flanking Active TSS	Fetal Lung	lung
47	chr10:92783400-92783800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:92783400-92783800	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr10:92783400-92783800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr10:92783400-92783800	Enhancers	NH-A	brain

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