Variant report

Variant	rs10070231
Chromosome Location	chr5:112550750-112550751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11241196	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11738528	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12332686	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12656003	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12659754	0.87[EUR][1000 genomes]
rs1867324	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3846720	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs521929	0.80[AMR][1000 genomes]
rs522105	0.82[AMR][1000 genomes]
rs637634	0.83[AMR][1000 genomes]
rs680503	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6865129	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112539200-112554000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112540800-112553400	Weak transcription	Brain Angular Gyrus	brain
3	chr5:112542000-112553400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:112542000-112553400	Weak transcription	Lung	lung
5	chr5:112546600-112551800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:112546600-112555800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:112546800-112552800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:112546800-112553800	Enhancers	Ovary	ovary
9	chr5:112547200-112551000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:112547200-112551800	Enhancers	Adipose Nuclei	Adipose
11	chr5:112547200-112553200	Enhancers	Fetal Heart	heart
12	chr5:112547200-112555600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:112547600-112551200	Enhancers	Brain Cingulate Gyrus	brain
14	chr5:112547800-112551000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:112547800-112552400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:112547800-112555600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:112547800-112555800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:112548000-112551000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:112548000-112551400	Enhancers	Left Ventricle	heart
20	chr5:112548000-112551400	Enhancers	Right Atrium	heart
21	chr5:112548000-112551400	Enhancers	Right Ventricle	heart
22	chr5:112548000-112552000	Enhancers	Placenta	Placenta
23	chr5:112548000-112552800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:112548000-112555600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:112548200-112552200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:112548200-112552200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:112548200-112552800	Enhancers	NHEK	skin
28	chr5:112548400-112551200	Weak transcription	NHDF-Ad	bronchial
29	chr5:112548400-112553200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
31	chr5:112548600-112551200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:112548600-112553400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:112548600-112554000	Weak transcription	HUVEC	blood vessel
34	chr5:112548800-112551400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:112548800-112551400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:112548800-112553200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:112549000-112554000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:112549200-112551400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:112549200-112551400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:112549400-112551600	Weak transcription	HMEC	breast
41	chr5:112549600-112550800	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:112549600-112559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:112549800-112552800	Weak transcription	Liver	Liver
44	chr5:112550000-112551400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr5:112550000-112553200	Weak transcription	Fetal Stomach	stomach
46	chr5:112550000-112553400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:112550000-112556800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:112550200-112551200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:112550200-112551200	Weak transcription	NH-A	brain
50	chr5:112550200-112551600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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