Variant report

Variant	rs57073916
Chromosome Location	chr1:185785353-185785354
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56156323	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60546696	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133271	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133272	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133293	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133297	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133298	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133299	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133675	1.00[AMR][1000 genomes]
rs74133676	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135324	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135330	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135343	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135345	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135348	0.83[AMR][1000 genomes]
rs74135349	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv3505065	chr1:185782529-185786377	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3505059	chr1:185782923-185785823	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2563566	chr1:185783040-185786062	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3505058	chr1:185783079-185786327	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3320936	chr1:185783378-185785589	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2347927	chr1:185783525-185785498	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv13927	chr1:185783571-185785361	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3320935	chr1:185783576-185785401	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3505056	chr1:185783608-185785406	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3505060	chr1:185783621-185785379	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3320938	chr1:185783632-185785367	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185782800-185787800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:185783600-185785400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:185785000-185787200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:185785200-185786200	Enhancers	NHDF-Ad	bronchial
5	chr1:185785200-185786400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:185785200-185786600	Enhancers	Foreskin Fibroblast Primary Cells skin01	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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