Variant report

Variant	rs6983143
Chromosome Location	chr8:124891485-124891486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13254500	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13282068	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4242347	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4466383	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4504619	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4571718	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470197	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6470198	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6470200	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6470201	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7006533	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv6374	chr8:124854157-124899409	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 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	chr8:124887800-124892200	Enhancers	NHDF-Ad	bronchial
2	chr8:124888200-124893800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:124888800-124891600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:124889200-124891600	Enhancers	Fetal Muscle Leg	muscle
5	chr8:124889200-124892200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:124889400-124894600	Weak transcription	Right Atrium	heart
7	chr8:124889600-124891600	Enhancers	Fetal Muscle Trunk	muscle
8	chr8:124890200-124892200	Enhancers	Fetal Stomach	stomach
9	chr8:124890800-124892000	Weak transcription	Ovary	ovary
10	chr8:124891000-124893400	Weak transcription	Osteobl	bone
11	chr8:124891200-124892400	Weak transcription	Fetal Intestine Large	intestine
12	chr8:124891400-124892600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:124891400-124892600	Weak transcription	Hela-S3	cervix
14	chr8:124891400-124893000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:124891400-124893200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:124891400-124893600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:124891400-124893800	Weak transcription	Adipose Nuclei	Adipose

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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