Variant report

Variant	rs1388215
Chromosome Location	chr5:124816623-124816624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:124812779..124814356-chr5:124815356..124817386,2	K562	blood:
2	chr5:124816573..124819551-chr5:124822797..124825714,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10076405	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11241809	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13187198	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1400870	0.95[ASN][1000 genomes]
rs1400872	0.81[ASN][1000 genomes]
rs1491066	0.89[ASN][1000 genomes]
rs1826262	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1826263	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1840978	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2046908	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2056216	0.90[ASN][1000 genomes]
rs2130845	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4407631	0.94[ASN][1000 genomes]
rs4425501	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4466164	0.93[ASN][1000 genomes]
rs4621558	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6595616	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6862357	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6875072	0.82[ASN][1000 genomes]
rs6895537	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs724863	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs769334	0.94[ASN][1000 genomes]
rs968759	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124813400-124819400	Weak transcription	Stomach Mucosa	stomach
2	chr5:124813600-124819000	Weak transcription	HSMMtube	muscle
3	chr5:124813600-124819200	Weak transcription	HMEC	breast
4	chr5:124813600-124819400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:124813600-124819400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:124813600-124819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:124814000-124819200	Weak transcription	HUVEC	blood vessel
8	chr5:124814600-124819400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:124814600-124819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:124814600-124819400	Weak transcription	NHEK	skin
11	chr5:124814600-124819800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:124814800-124819600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:124815000-124819800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:124815800-124816800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:124815800-124817400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:124815800-124821600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:124816200-124818200	Enhancers	NHDF-Ad	bronchial
18	chr5:124816400-124817000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:124816400-124817800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:124816400-124818000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:124816400-124822600	Enhancers	Fetal Brain Male	brain
22	chr5:124816600-124817000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:124816600-124817400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:124816600-124817800	Enhancers	Brain Anterior Caudate	brain
25	chr5:124816600-124817800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:124816600-124818000	Enhancers	Brain Hippocampus Middle	brain
27	chr5:124816600-124818400	Enhancers	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links