Variant report

Variant	rs73129390
Chromosome Location	chr5:92583050-92583051
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1460743	1.00[EUR][1000 genomes]
rs17082932	1.00[EUR][1000 genomes]
rs56287127	1.00[EUR][1000 genomes]
rs57163507	1.00[EUR][1000 genomes]
rs58422066	1.00[EUR][1000 genomes]
rs58841810	1.00[EUR][1000 genomes]
rs61576293	1.00[EUR][1000 genomes]
rs6884164	1.00[EUR][1000 genomes]
rs73129347	1.00[EUR][1000 genomes]
rs73129357	1.00[EUR][1000 genomes]
rs73129377	1.00[EUR][1000 genomes]
rs73129383	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73129387	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73131359	1.00[EUR][1000 genomes]
rs7715030	1.00[EUR][1000 genomes]
rs7720992	1.00[EUR][1000 genomes]
rs7729682	1.00[EUR][1000 genomes]
rs9784703	1.00[EUR][1000 genomes]
rs9784712	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830400	chr5:92515026-92738896	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv830401	chr5:92518294-92703611	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462252	chr5:92557969-92595939	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv598941	chr5:92557969-92595939	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv462253	chr5:92557969-92611658	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv598942	chr5:92557969-92611658	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1028785	chr5:92564952-92596445	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv882381	chr5:92576494-92649716	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92573600-92585400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:92578800-92584000	Enhancers	HepG2	liver
3	chr5:92579800-92584600	Weak transcription	HUVEC	blood vessel
4	chr5:92580600-92583200	Enhancers	Fetal Kidney	kidney
5	chr5:92580800-92585000	Enhancers	Fetal Lung	lung
6	chr5:92581400-92584600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:92581400-92585200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:92581800-92583200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:92581800-92583200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:92581800-92583600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr5:92582000-92583200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr5:92582000-92583600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr5:92582200-92583200	Enhancers	Stomach Smooth Muscle	stomach
14	chr5:92582200-92585200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:92582200-92585400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:92582400-92584400	Weak transcription	Fetal Brain Male	brain
17	chr5:92582400-92584600	Weak transcription	Ovary	ovary
18	chr5:92582400-92585000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:92582400-92585000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:92582400-92585200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:92582400-92585200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:92582400-92585400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:92582400-92585400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:92582400-92585400	Weak transcription	Adipose Nuclei	Adipose
25	chr5:92582400-92585400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:92582400-92585400	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:92582400-92585400	Weak transcription	NH-A	brain
28	chr5:92582600-92584600	Weak transcription	Fetal Stomach	stomach
29	chr5:92582600-92584600	Weak transcription	NHLF	lung
30	chr5:92582600-92585200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:92582600-92585400	Weak transcription	Brain Angular Gyrus	brain
32	chr5:92582600-92585400	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:92582800-92583200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:92583000-92583200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:92583000-92583200	Enhancers	Brain Anterior Caudate	brain
36	chr5:92583000-92583600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:92583000-92585000	Weak transcription	Brain Substantia Nigra	brain
38	chr5:92583000-92585400	Weak transcription	Rectal Smooth Muscle	rectum

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