Variant report

Variant	rs10519338
Chromosome Location	chr5:112506232-112506233
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10519335	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12186708	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12187343	0.89[EUR][1000 genomes]
rs17135341	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17135370	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2416316	1.00[JPT][hapmap]
rs55824950	0.96[EUR][1000 genomes]
rs6899273	0.85[EUR][1000 genomes]
rs7731121	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7732705	0.82[AMR][1000 genomes];0.85[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	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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112495800-112506400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:112499400-112506400	Weak transcription	Adipose Nuclei	Adipose
3	chr5:112500000-112507000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:112500800-112513800	Weak transcription	Lung	lung
5	chr5:112500800-112518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:112502000-112507000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:112503000-112513600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:112503200-112514000	Weak transcription	Fetal Stomach	stomach
9	chr5:112503600-112510800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:112503800-112514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:112504000-112507200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:112504000-112507400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:112504200-112507600	Enhancers	Left Ventricle	heart
14	chr5:112504400-112507800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:112504400-112507800	Enhancers	Right Ventricle	heart
16	chr5:112504400-112512600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:112504600-112506600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:112504800-112506600	Enhancers	Fetal Heart	heart
19	chr5:112504800-112525600	Weak transcription	Esophagus	oesophagus
20	chr5:112505200-112506800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:112505400-112506600	Weak transcription	Ovary	ovary
22	chr5:112505400-112506800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:112505400-112507000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:112505400-112507000	Enhancers	Fetal Lung	lung
25	chr5:112505400-112512000	Weak transcription	Right Atrium	heart
26	chr5:112505600-112506600	Weak transcription	Placenta	Placenta
27	chr5:112505600-112506800	Weak transcription	Psoas Muscle	Psoas
28	chr5:112505600-112507000	Bivalent Enhancer	Osteobl	bone
29	chr5:112505800-112506800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:112505800-112521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:112506000-112506400	Weak transcription	Brain Anterior Caudate	brain
32	chr5:112506000-112506400	Enhancers	Brain Substantia Nigra	brain
33	chr5:112506000-112506800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:112506000-112512000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:112506200-112512000	Weak transcription	Liver	Liver
36	chr5:112506200-112512000	Weak transcription	NHEK	skin
37	chr5:112506200-112518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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