Variant report

Variant	rs58574417
Chromosome Location	chr1:70448684-70448685
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11802766	0.87[AMR][1000 genomes]
rs12060100	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12062605	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12066962	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12088269	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131125	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55858638	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56278841	0.90[EUR][1000 genomes]
rs66724614	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67032718	0.95[EUR][1000 genomes]
rs72676873	0.90[EUR][1000 genomes]
rs72676875	0.90[EUR][1000 genomes]
rs72676880	0.90[EUR][1000 genomes]
rs7554827	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428466	chr1:70306638-70455357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70440600-70456600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:70446000-70449000	Weak transcription	Fetal Brain Female	brain
3	chr1:70446200-70455400	Weak transcription	Brain Germinal Matrix	brain
4	chr1:70447800-70449600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:70447800-70450600	Enhancers	Hela-S3	cervix
6	chr1:70448000-70449600	Enhancers	NHDF-Ad	bronchial
7	chr1:70448000-70449800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:70448200-70449600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:70448200-70449600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:70448400-70449200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:70448400-70449400	Enhancers	NH-A	brain
12	chr1:70448400-70449400	Enhancers	Osteobl	bone
13	chr1:70448400-70449600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:70448400-70449600	Enhancers	HSMM	muscle
15	chr1:70448600-70449200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:70448600-70449200	Enhancers	HUVEC	blood vessel
17	chr1:70448600-70456600	Weak transcription	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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