Variant report

Variant	rs58637690
Chromosome Location	chr1:192881103-192881104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494676	1.00[EUR][1000 genomes]
rs10494677	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921281	0.83[EUR][1000 genomes]
rs10921284	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921288	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076933	0.83[EUR][1000 genomes]
rs12087043	0.83[EUR][1000 genomes]
rs16834924	0.83[EUR][1000 genomes]
rs16834945	0.89[EUR][1000 genomes]
rs2370026	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56921005	0.94[EUR][1000 genomes]
rs60641679	0.83[EUR][1000 genomes]
rs61394494	0.83[EUR][1000 genomes]
rs7523033	0.83[EUR][1000 genomes]
rs7530747	0.83[EUR][1000 genomes]
rs7542329	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv945401	chr1:192878498-192882992	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv519451	chr1:192880701-192888345	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192875400-192889200	Weak transcription	Pancreas	Pancrea
2	chr1:192877600-192881400	Weak transcription	HSMMtube	muscle
3	chr1:192877800-192884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:192877800-192884000	Weak transcription	Small Intestine	intestine
5	chr1:192878000-192881200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:192878000-192883000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:192878400-192881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:192878400-192883000	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:192878400-192883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:192878800-192883000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:192880800-192882000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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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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