Variant report

Variant	rs1116546
Chromosome Location	chr5:112680465-112680466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17135496	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135585	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135602	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236486	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241728	0.85[AFR][1000 genomes]
rs73244758	1.00[AMR][1000 genomes]
rs73250473	0.96[AFR][1000 genomes];1.00[AMR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112667000-112681000	Weak transcription	Esophagus	oesophagus
2	chr5:112667200-112680600	Weak transcription	NHEK	skin
3	chr5:112667200-112680800	Weak transcription	Right Ventricle	heart
4	chr5:112667200-112681000	Weak transcription	Pancreas	Pancrea
5	chr5:112667200-112693400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:112678800-112681400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:112678800-112681600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:112678800-112682400	Enhancers	HMEC	breast
9	chr5:112679000-112682000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:112679400-112680800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:112679400-112681000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:112679400-112681400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:112679800-112680800	Weak transcription	Fetal Heart	heart
14	chr5:112679800-112683000	Weak transcription	Fetal Stomach	stomach
15	chr5:112680400-112682000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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