Variant report

Variant	rs58748693
Chromosome Location	chr5:179607780-179607781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34147472	1.00[AMR][1000 genomes]
rs34461510	1.00[AMR][1000 genomes]
rs34808895	1.00[AMR][1000 genomes]
rs35089249	1.00[AMR][1000 genomes]
rs35106284	1.00[AMR][1000 genomes]
rs35288370	1.00[AMR][1000 genomes]
rs35568530	1.00[AMR][1000 genomes]
rs35765078	1.00[AMR][1000 genomes]
rs35782688	1.00[AMR][1000 genomes]
rs35886948	1.00[AMR][1000 genomes]
rs36052878	1.00[AMR][1000 genomes]
rs58779877	1.00[AMR][1000 genomes]
rs58781679	1.00[AMR][1000 genomes]
rs61519718	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak 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 miRNA target site	189 gene(s)	inside rSNPs	diseases
2	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
4	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv883288	chr5:179537727-179608656	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1030036	chr5:179543546-179610871	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv830562	chr5:179555313-179622441	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv525160	chr5:179597647-179611713	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv883289	chr5:179597647-179639885	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179597400-179608800	Enhancers	Fetal Muscle Leg	muscle
2	chr5:179603000-179608200	Enhancers	Brain Substantia Nigra	brain
3	chr5:179604800-179608000	Enhancers	Brain Hippocampus Middle	brain
4	chr5:179605000-179608400	Weak transcription	Spleen	Spleen
5	chr5:179605400-179607800	Enhancers	Brain Angular Gyrus	brain
6	chr5:179605600-179608200	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:179605800-179608200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:179606000-179607800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:179606400-179607800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:179606400-179607800	Enhancers	Brain Germinal Matrix	brain
11	chr5:179606600-179607800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:179606600-179608000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:179606600-179608200	Enhancers	Fetal Muscle Trunk	muscle
14	chr5:179606800-179607800	Bivalent Enhancer	Fetal Stomach	stomach
15	chr5:179606800-179618800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:179607000-179608000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr5:179607200-179607800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:179607400-179608000	Enhancers	HSMMtube	muscle
19	chr5:179607600-179607800	Enhancers	Gastric	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
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