Variant report

Variant	rs58345531
Chromosome Location	chr2:206175094-206175095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10199814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13394469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13400802	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16837173	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16837202	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1921792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1921793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1921804	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4119080	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57128422	1.00[EUR][1000 genomes]
rs59179287	1.00[EUR][1000 genomes]
rs59554665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59827121	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60989157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61131067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6718851	1.00[EUR][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	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	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206161200-206177000	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:206163800-206177200	Weak transcription	Fetal Lung	lung
3	chr2:206165600-206177200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:206168600-206190600	Weak transcription	Fetal Intestine Large	intestine
5	chr2:206168800-206176200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:206171000-206183400	Weak transcription	Aorta	Aorta
7	chr2:206171000-206186200	Weak transcription	HSMMtube	muscle
8	chr2:206171000-206190200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:206172600-206185400	Weak transcription	HSMM	muscle

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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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