Variant report

Variant	rs4920922
Chromosome Location	chr5:115992810-115992811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1124239	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12521259	0.85[AMR][1000 genomes]
rs1353046	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1389163	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1389164	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1493118	0.88[AMR][1000 genomes]
rs1845177	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1908006	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1948429	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7707446	0.81[AMR][1000 genomes]
rs7716445	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7734305	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7737465	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs902987	0.93[AMR][1000 genomes];0.88[EUR][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	esv2763490	chr5:115918339-116138525	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830456	chr5:115969066-116170718	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115987600-115996400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:115988400-115993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:115988600-115993000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:115989000-115993400	Weak transcription	NHEK	skin
5	chr5:115989000-115993800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:115989000-115993800	Weak transcription	HMEC	breast
7	chr5:115989200-115994000	Weak transcription	Fetal Lung	lung
8	chr5:115989400-115996400	Weak transcription	Fetal Stomach	stomach
9	chr5:115990800-115994000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:115990800-115995800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:115991200-115993800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:115991400-115993800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:115991400-115994200	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:115991600-115996200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:115992400-115993000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:115992600-115997000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:115992800-115994000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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