Variant report

Variant	rs4425501
Chromosome Location	chr5:124822228-124822229
allele	A/C
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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241809	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13187198	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1388215	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1400870	0.85[ASN][1000 genomes]
rs1826262	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1826263	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1840978	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2046908	0.86[ASN][1000 genomes]
rs2056216	0.82[ASN][1000 genomes]
rs2130845	0.83[ASN][1000 genomes]
rs4407631	0.84[ASN][1000 genomes]
rs4466164	0.84[ASN][1000 genomes]
rs4621558	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6595616	0.84[ASN][1000 genomes]
rs6862357	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6895537	0.88[ASN][1000 genomes]
rs724863	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs769334	0.83[ASN][1000 genomes]
rs968759	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124816400-124822600	Enhancers	Fetal Brain Male	brain
2	chr5:124819000-124823400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:124819400-124822600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:124819400-124822600	Enhancers	Brain Germinal Matrix	brain
5	chr5:124819400-124822600	Enhancers	Brain Substantia Nigra	brain
6	chr5:124819400-124822600	Enhancers	Fetal Brain Female	brain
7	chr5:124819400-124823400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:124819400-124823400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:124819400-124823400	Enhancers	Brain Cingulate Gyrus	brain
10	chr5:124819400-124823400	Enhancers	Fetal Stomach	stomach
11	chr5:124819600-124823200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:124819600-124823400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:124819600-124823400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:124819800-124823200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:124820000-124822400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr5:124820000-124822400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:124820000-124823200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:124820200-124823400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:124820200-124823400	Enhancers	NHLF	lung
20	chr5:124820400-124822800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:124820600-124822600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:124820600-124823000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:124820600-124823200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:124820600-124823400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:124820800-124822800	Enhancers	Fetal Kidney	kidney
26	chr5:124820800-124823000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr5:124820800-124823400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:124821000-124822400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:124821000-124822600	Enhancers	Fetal Lung	lung
30	chr5:124821000-124822600	Enhancers	Rectal Smooth Muscle	rectum
31	chr5:124821000-124823200	Enhancers	NHEK	skin
32	chr5:124821000-124823400	Enhancers	Stomach Mucosa	stomach
33	chr5:124821000-124824800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:124821200-124822400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr5:124821200-124823000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:124821200-124823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:124821200-124823200	Enhancers	Brain Angular Gyrus	brain
38	chr5:124821200-124823400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:124821400-124823400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:124821400-124823400	Enhancers	HMEC	breast
41	chr5:124821400-124823400	Enhancers	HSMM	muscle
42	chr5:124821400-124823600	Enhancers	Brain Anterior Caudate	brain
43	chr5:124821600-124823000	Enhancers	HUVEC	blood vessel
44	chr5:124821600-124823200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:124821600-124823200	Enhancers	Colon Smooth Muscle	Colon
46	chr5:124821600-124823200	Enhancers	NH-A	brain
47	chr5:124821600-124823600	Enhancers	Brain Hippocampus Middle	brain
48	chr5:124821800-124822400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr5:124821800-124822400	Weak transcription	Small Intestine	intestine
50	chr5:124821800-124822800	Weak transcription	Stomach Smooth Muscle	stomach

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