Variant report

Variant	rs4621558
Chromosome Location	chr5:124833007-124833008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10076405	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11241809	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13187198	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1388215	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1400870	0.82[ASN][1000 genomes]
rs1826262	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1826263	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1840978	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2046908	0.83[ASN][1000 genomes]
rs2056216	0.80[ASN][1000 genomes]
rs2130845	0.81[ASN][1000 genomes]
rs4407631	0.82[ASN][1000 genomes]
rs4425501	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4466164	0.82[ASN][1000 genomes]
rs6595616	0.82[ASN][1000 genomes]
rs6862357	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6895537	0.85[ASN][1000 genomes]
rs724863	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs769334	0.81[ASN][1000 genomes]
rs968759	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv882824	chr5:124789500-124875058	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124822800-124833800	Weak transcription	Fetal Kidney	kidney
2	chr5:124823400-124860400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:124827800-124843600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:124828000-124837000	Weak transcription	HSMM	muscle
5	chr5:124828200-124835600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:124829000-124833200	Weak transcription	Aorta	Aorta
7	chr5:124829000-124835600	Weak transcription	HSMMtube	muscle
8	chr5:124829800-124835400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:124832400-124833200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:124832400-124834600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:124832400-124835000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:124832400-124835600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:124832600-124834600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:124832600-124835400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:124832600-124835400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:124832600-124835400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:124832600-124835400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:124833000-124833200	Enhancers	Brain Germinal Matrix	brain
19	chr5:124833000-124833800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:124833000-124834000	Enhancers	Brain Substantia Nigra	brain
21	chr5:124833000-124837800	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:124833000-124837800	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links