Variant report

Variant	rs60294597
Chromosome Location	chr6:45635930-45635931
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56054143	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57853251	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58112491	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58407953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58844599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60588484	1.00[AMR][1000 genomes]
rs60643594	1.00[AMR][1000 genomes]
rs73444595	1.00[AMR][1000 genomes]
rs73735411	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735414	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735426	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735428	1.00[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45631800-45645000	Weak transcription	Colonic Mucosa	Colon
2	chr6:45632000-45643400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:45632200-45636600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:45632600-45643400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:45634200-45642200	Weak transcription	Fetal Thymus	thymus
6	chr6:45634200-45645200	Weak transcription	Right Atrium	heart
7	chr6:45635000-45644800	Weak transcription	NHLF	lung
8	chr6:45635200-45636000	Enhancers	Fetal Lung	lung
9	chr6:45635200-45636600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:45635600-45644200	Weak transcription	HSMM	muscle
11	chr6:45635600-45644800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:45635800-45636000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:45635800-45643400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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