Variant report

Variant	rs55833722
Chromosome Location	chr5:111554846-111554847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs17267182	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17268090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17268557	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17269764	1.00[AMR][1000 genomes]
rs17321278	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17321396	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs27407	1.00[AMR][1000 genomes]
rs34008454	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55873492	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55919756	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56057052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56062009	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6871505	0.86[EUR][1000 genomes]
rs6898180	0.86[EUR][1000 genomes]
rs7715098	0.86[EUR][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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:111504800-111586400	Weak transcription	Gastric	stomach
3	chr5:111538600-111563600	Weak transcription	Lung	lung
4	chr5:111545400-111556800	Weak transcription	Fetal Kidney	kidney
5	chr5:111545600-111556400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:111546600-111561600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:111553600-111555000	Enhancers	Psoas Muscle	Psoas
8	chr5:111554000-111556000	Weak transcription	A549	lung
9	chr5:111554000-111562800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:111554200-111558200	Weak transcription	Pancreas	Pancrea
11	chr5:111554200-111563600	Weak transcription	Left Ventricle	heart
12	chr5:111554200-111563600	Weak transcription	Right Ventricle	heart
13	chr5:111554200-111568400	Weak transcription	Right Atrium	heart
14	chr5:111554400-111556200	Weak transcription	Fetal Heart	heart

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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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