Variant report

Variant	rs73129387
Chromosome Location	chr5:92581003-92581004
allele	C/T
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	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73129390	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:23 , 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	chr5:92579400-92582600	Enhancers	Fetal Stomach	stomach
4	chr5:92579600-92581400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:92579600-92581800	Enhancers	Stomach Smooth Muscle	stomach
6	chr5:92579600-92582000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:92579800-92582000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:92579800-92584600	Weak transcription	HUVEC	blood vessel
9	chr5:92580200-92582200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr5:92580200-92582600	Enhancers	Colon Smooth Muscle	Colon
11	chr5:92580600-92583200	Enhancers	Fetal Kidney	kidney
12	chr5:92580800-92585000	Enhancers	Fetal Lung	lung
13	chr5:92581000-92581400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:92581000-92581400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:92581000-92581600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:92581000-92582400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:92581000-92582400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:92581000-92582400	Enhancers	Adipose Nuclei	Adipose
19	chr5:92581000-92582400	Enhancers	Fetal Muscle Leg	muscle
20	chr5:92581000-92582400	Enhancers	Ovary	ovary
21	chr5:92581000-92582600	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:92581000-92582600	Enhancers	NHLF	lung
23	chr5:92581000-92583000	Enhancers	Rectal Smooth Muscle	rectum

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