Variant report

Variant	rs1904134
Chromosome Location	chr5:117224933-117224934
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1904135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4374787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4409133	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6885421	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7719728	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9885006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019332	chr5:116888074-117248632	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1027428	chr5:117072745-118036353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537877	chr5:117072745-118036353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv882760	chr5:117087858-117292268	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1067621	chr5:117102544-118036352	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv531292	chr5:117102544-118036352	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv599490	chr5:117118798-117241490	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027231	chr5:117144919-117375680	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv537878	chr5:117144919-117375680	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1033737	chr5:117148087-117274792	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv537879	chr5:117148087-117274792	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv882761	chr5:117152947-117241490	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1021370	chr5:117217907-117479218	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117223600-117225400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:117224000-117225200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:117224000-117225400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:117224200-117225000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:117224200-117225000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:117224200-117225200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:117224400-117225000	Active TSS	Brain Angular Gyrus	brain
8	chr5:117224400-117225000	Active TSS	Ovary	ovary
9	chr5:117224400-117225000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:117224400-117225200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr5:117224600-117225000	Flanking Active TSS	NHLF	lung
12	chr5:117224600-117225200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:117224600-117225200	Flanking Active TSS	NHDF-Ad	bronchial
14	chr5:117224800-117225000	Enhancers	Brain Substantia Nigra	brain
15	chr5:117224800-117225000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:117224800-117225000	Enhancers	Fetal Lung	lung
17	chr5:117224800-117225000	Flanking Active TSS	GM12878-XiMat	blood
18	chr5:117224800-117225200	Enhancers	Left Ventricle	heart
19	chr5:117224800-117225200	Enhancers	Right Atrium	heart
20	chr5:117224800-117225400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:117224800-117225400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:117224800-117225400	Enhancers	Adipose Nuclei	Adipose
23	chr5:117224800-117225400	Enhancers	Brain Hippocampus Middle	brain
24	chr5:117224800-117225600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:117224800-117225600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:117224800-117225600	Enhancers	Dnd41	blood
27	chr5:117224800-117225800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:117224800-117226800	Enhancers	Primary hematopoietic stem cells	blood

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