Variant report

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10434774	0.84[AMR][1000 genomes]
rs2608114	0.85[AMR][1000 genomes]
rs2608115	0.82[AMR][1000 genomes]
rs330336	0.84[AMR][1000 genomes]
rs330337	0.84[AMR][1000 genomes]
rs330338	0.83[AMR][1000 genomes]
rs330341	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs330343	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs330344	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs330350	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs330352	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs330353	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs330355	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs330356	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs331720	0.84[AMR][1000 genomes]
rs331721	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv882828	chr5:124867823-124958205	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv534468	chr5:124943170-125634960	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124947800-124948400	Enhancers	Fetal Muscle Leg	muscle
2	chr5:124947800-124949200	Enhancers	Fetal Kidney	kidney
3	chr5:124948000-124948400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:124948000-124948400	Enhancers	Esophagus	oesophagus
5	chr5:124948000-124948400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:124948000-124948400	Flanking Active TSS	Fetal Muscle Trunk	muscle
7	chr5:124948000-124948400	Enhancers	Pancreas	Pancrea
8	chr5:124948000-124948400	Enhancers	Right Atrium	heart
9	chr5:124948000-124948400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr5:124948000-124948400	Flanking Active TSS	HSMM	muscle
11	chr5:124948000-124948600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:124948000-124948600	Enhancers	Brain Germinal Matrix	brain
13	chr5:124948000-124948800	Enhancers	Brain Angular Gyrus	brain
14	chr5:124948200-124948400	Active TSS	Brain Hippocampus Middle	brain
15	chr5:124948200-124948400	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr5:124948200-124948400	Flanking Active TSS	Psoas Muscle	Psoas
17	chr5:124948200-124948400	Enhancers	HSMMtube	muscle
18	chr5:124948200-124948600	Enhancers	Fetal Brain Female	brain
19	chr5:124948200-124948800	Enhancers	Brain Anterior Caudate	brain
20	chr5:124948200-124948800	Enhancers	HUVEC	blood vessel

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