Variant report

Variant	rs55754163
Chromosome Location	chr2:49055474-49055475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17037663	1.00[AMR][1000 genomes]
rs17037850	1.00[AMR][1000 genomes]
rs17037865	1.00[AMR][1000 genomes]
rs4375917	0.80[AFR][1000 genomes]
rs55670554	1.00[AMR][1000 genomes]
rs56161917	1.00[AMR][1000 genomes]
rs56955025	1.00[AMR][1000 genomes]
rs56995070	1.00[AMR][1000 genomes]
rs57573624	1.00[AMR][1000 genomes]
rs57994485	1.00[AMR][1000 genomes]
rs61358380	1.00[AMR][1000 genomes]
rs72873066	1.00[AMR][1000 genomes]
rs73928323	1.00[AMR][1000 genomes]
rs73928343	1.00[AMR][1000 genomes]
rs73928344	1.00[AMR][1000 genomes]
rs73928347	1.00[AMR][1000 genomes]
rs73928358	1.00[AMR][1000 genomes]
rs73928361	1.00[AMR][1000 genomes]
rs7426260	1.00[AMR][1000 genomes]
rs7586162	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv998864	chr2:49015878-49230000	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1011157	chr2:49041121-49061439	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1008459	chr2:49041121-49062097	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49055200-49056000	Enhancers	NH-A	brain
3	chr2:49055200-49056400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:49055200-49056600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:49055400-49056000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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