Variant report

Variant	rs73060925
Chromosome Location	chr2:205613366-205613367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58347501	1.00[AMR][1000 genomes]
rs59614427	1.00[AMR][1000 genomes]
rs61099489	1.00[AMR][1000 genomes]
rs73053164	1.00[AMR][1000 genomes]
rs73059039	1.00[AMR][1000 genomes]
rs73059054	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73059077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73060932	1.00[AMR][1000 genomes]
rs73066608	1.00[AMR][1000 genomes]
rs73066610	1.00[AMR][1000 genomes]
rs73066621	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73066640	1.00[AMR][1000 genomes]
rs73066645	1.00[AMR][1000 genomes]
rs73066648	1.00[AMR][1000 genomes]
rs73066658	1.00[AMR][1000 genomes]
rs73066661	1.00[AMR][1000 genomes]
rs73066670	1.00[AMR][1000 genomes]
rs73066676	1.00[AMR][1000 genomes]
rs73066678	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv584243	chr2:205539092-205630618	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv875724	chr2:205572718-205727222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv875726	chr2:205588773-205700834	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2763061	chr2:205610960-205637114	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205604400-205613400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:205608600-205615000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:205611600-205622800	Weak transcription	Fetal Heart	heart
4	chr2:205612800-205614400	Enhancers	NHDF-Ad	bronchial
5	chr2:205612800-205615000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:205612800-205615400	Enhancers	HSMM	muscle
7	chr2:205612800-205615400	Enhancers	Osteobl	bone
8	chr2:205613000-205613400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:205613000-205613800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:205613000-205614800	Enhancers	NHLF	lung
11	chr2:205613000-205615200	Enhancers	HSMMtube	muscle
12	chr2:205613000-205615400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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