Variant report

Variant	rs4954052
Chromosome Location	chr2:134232622-134232623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1008125	0.96[EUR][1000 genomes]
rs1017368	0.81[EUR][1000 genomes]
rs11695605	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11887480	0.82[EUR][1000 genomes]
rs11896713	0.89[EUR][1000 genomes]
rs1865585	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1897429	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2163653	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2163654	0.84[EUR][1000 genomes]
rs2320935	0.95[EUR][1000 genomes]
rs2874399	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3910163	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4954059	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7559239	0.81[EUR][1000 genomes]
rs7595258	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134229600-134234800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:134231400-134240000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:134232600-134236200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:134232600-134236200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:134232600-134236200	Enhancers	HMEC	breast
6	chr2:134232600-134236400	Enhancers	NHEK	skin
7	chr2:134232600-134236600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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