Variant report

Variant	rs252983
Chromosome Location	chr5:106753301-106753302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106748728..106750228-chr5:106752958..106755259,2	K562	blood:
2	chr5:106751855..106753579-chr5:106758119..106760914,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs252803	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs252804	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs252805	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs252808	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs252810	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs252811	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs252812	0.92[EUR][1000 genomes]
rs252814	0.82[EUR][1000 genomes]
rs252815	0.82[EUR][1000 genomes]
rs252818	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs252819	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs252984	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2562525	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2731839	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2731840	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs431982	0.92[EUR][1000 genomes]
rs467472	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs468998	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106738800-106761600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:106739000-106754600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:106739000-106758200	Weak transcription	Left Ventricle	heart
4	chr5:106739600-106762600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:106741000-106758200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:106742000-106753800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:106745000-106754000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:106745600-106758400	Weak transcription	Right Ventricle	heart
9	chr5:106745600-106758400	Weak transcription	HMEC	breast
10	chr5:106745800-106753800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:106746600-106753400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:106750000-106758200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:106750000-106758400	Weak transcription	Aorta	Aorta
14	chr5:106751200-106753800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:106751400-106758000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:106751400-106759400	Enhancers	A549	lung
17	chr5:106751600-106753400	Enhancers	Fetal Heart	heart
18	chr5:106751600-106753400	Weak transcription	Fetal Lung	lung
19	chr5:106751600-106764400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:106751800-106758200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:106751800-106765800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:106751800-106767800	Weak transcription	Stomach Mucosa	stomach
23	chr5:106752000-106761600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:106752400-106758200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:106752400-106758200	Weak transcription	HSMM	muscle
26	chr5:106752600-106753800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr5:106752600-106761600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:106753000-106757600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:106753200-106754600	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links