Variant report

Variant	rs330352
Chromosome Location	chr5:124933163-124933164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10434773	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10434774	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2608114	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2608115	0.85[AMR][1000 genomes]
rs330336	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs330337	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs330338	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs330341	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs330343	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs330344	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs330350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs330353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330354	0.88[ASN][1000 genomes]
rs330355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs330356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331716	0.80[AMR][1000 genomes]
rs331720	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs331721	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs68142408	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv882827	chr5:124867823-124943901	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	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
5	nsv4986	chr5:124899753-124944916	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124929000-124933200	Weak transcription	Osteobl	bone
2	chr5:124929200-124934200	Enhancers	HSMM	muscle
3	chr5:124929600-124933200	Weak transcription	NH-A	brain
4	chr5:124930200-124933800	Enhancers	HSMMtube	muscle
5	chr5:124930200-124937800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:124930400-124933400	Weak transcription	Fetal Stomach	stomach
7	chr5:124930600-124933800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:124930800-124933600	Enhancers	Fetal Heart	heart
9	chr5:124931000-124933200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:124931000-124934800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:124931200-124934000	Enhancers	NHDF-Ad	bronchial
12	chr5:124931600-124933400	Enhancers	Fetal Muscle Leg	muscle
13	chr5:124931800-124933200	Weak transcription	NHLF	lung
14	chr5:124931800-124935000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:124932000-124933200	Weak transcription	Brain Anterior Caudate	brain
16	chr5:124932000-124933200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:124932200-124933200	Weak transcription	Ovary	ovary
18	chr5:124932600-124933400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:124932600-124933600	Enhancers	Brain Substantia Nigra	brain
20	chr5:124932600-124933800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:124932600-124934400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:124932800-124933800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:124933000-124933400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:124933000-124933600	Enhancers	Brain Hippocampus Middle	brain
25	chr5:124933000-124933600	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links