Variant report

Variant	rs59490914
Chromosome Location	chr5:112467258-112467259
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10478111	0.82[EUR][1000 genomes]
rs11241194	0.82[EUR][1000 genomes]
rs13328205	0.86[EUR][1000 genomes]
rs13362473	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044237	0.82[EUR][1000 genomes]
rs2197278	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705790	0.82[EUR][1000 genomes]
rs55728256	0.82[EUR][1000 genomes]
rs57683399	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58531861	0.81[ASN][1000 genomes]
rs7701321	0.83[ASN][1000 genomes]
rs7725873	0.82[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
2	chr5:112458400-112474200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:112458600-112474000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:112458600-112477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:112458800-112476600	Weak transcription	NHEK	skin
6	chr5:112459400-112468400	Weak transcription	NHDF-Ad	bronchial
7	chr5:112460800-112467400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:112461200-112469400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:112461400-112468400	Weak transcription	Ovary	ovary
10	chr5:112461400-112476800	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:112461800-112476200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:112462000-112467400	Weak transcription	Adipose Nuclei	Adipose
13	chr5:112462200-112475600	Weak transcription	Liver	Liver
14	chr5:112462600-112476200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:112464600-112468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:112464800-112468200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:112464800-112470000	Weak transcription	Fetal Brain Female	brain
18	chr5:112464800-112476800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:112465200-112476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:112466000-112467400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:112466200-112467600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:112466200-112467600	Enhancers	Left Ventricle	heart
23	chr5:112466200-112467800	Enhancers	Psoas Muscle	Psoas
24	chr5:112466400-112467400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:112466600-112467600	Enhancers	Right Atrium	heart
26	chr5:112466600-112467600	Enhancers	Right Ventricle	heart
27	chr5:112466600-112468600	Enhancers	Fetal Heart	heart
28	chr5:112466800-112467400	Enhancers	Fetal Brain Male	brain
29	chr5:112467200-112467400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:112467200-112467400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:112467200-112467400	Enhancers	Fetal Muscle Trunk	muscle
32	chr5:112467200-112467600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:112467200-112467800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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