Variant report

Variant	rs13282323
Chromosome Location	chr8:66472792-66472793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10957358	0.86[EUR][1000 genomes]
rs10957359	0.86[EUR][1000 genomes]
rs11786598	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11992528	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13271817	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13281981	0.81[EUR][1000 genomes]
rs28547533	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28709439	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4394432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6472208	0.96[AFR][1000 genomes]
rs6472209	0.84[AFR][1000 genomes]
rs6991838	0.85[EUR][1000 genomes]
rs6994889	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7462352	0.88[AMR][1000 genomes];0.86[EUR][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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13282323	CTD-3025N20.3	cis	Artery Tibial	GTEx
rs13282323	CTD-3025N20.3	cis	Thyroid	GTEx
rs13282323	CTD-3025N20.3	cis	lung	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66472200-66472800	Enhancers	H1 Cell Line	embryonic stem cell
2	chr8:66472400-66472800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr8:66472400-66473000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:66472400-66473000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr8:66472400-66473000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr8:66472400-66473000	Enhancers	Placenta	Placenta
7	chr8:66472400-66473200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr8:66472400-66474400	Enhancers	Fetal Brain Male	brain
9	chr8:66472600-66472800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:66472600-66472800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:66472600-66472800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:66472600-66472800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:66472600-66472800	Bivalent Enhancer	Primary T cells from cord blood	blood
14	chr8:66472600-66472800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr8:66472600-66472800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:66472600-66472800	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
17	chr8:66472600-66472800	Enhancers	Brain Anterior Caudate	brain
18	chr8:66472600-66472800	Enhancers	Brain Cingulate Gyrus	brain
19	chr8:66472600-66472800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr8:66472600-66472800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
21	chr8:66472600-66472800	Bivalent Enhancer	Fetal Stomach	stomach
22	chr8:66472600-66472800	Bivalent Enhancer	Right Ventricle	heart
23	chr8:66472600-66472800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
24	chr8:66472600-66473000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:66472600-66473000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:66472600-66473000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:66472600-66473000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr8:66472600-66473000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:66472600-66473000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:66472600-66473000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr8:66472600-66473000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:66472600-66473000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:66472600-66473000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr8:66472600-66473000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:66472600-66473000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
36	chr8:66472600-66473000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:66472600-66473000	Enhancers	Esophagus	oesophagus
38	chr8:66472600-66473000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr8:66472600-66473000	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr8:66472600-66473000	Bivalent Enhancer	Fetal Thymus	thymus
41	chr8:66472600-66473000	Bivalent Enhancer	Lung	lung
42	chr8:66472600-66473200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr8:66472600-66473200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr8:66472600-66473200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:66472600-66473200	Enhancers	Liver	Liver
46	chr8:66472600-66473200	Flanking Active TSS	Fetal Brain Female	brain
47	chr8:66472600-66473200	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr8:66472600-66473800	Active TSS	Brain Hippocampus Middle	brain

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