Variant report

Variant	rs73333019
Chromosome Location	chr8:122005518-122005519
allele	A/C
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:11)

rs_ID	r²[population]
rs16892931	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894490	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894494	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315256	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315259	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333023	0.83[AFR][1000 genomes]
rs73333028	0.83[AFR][1000 genomes]
rs73333050	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333065	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333075	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9773209	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv891425	chr8:121875083-122025559	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122002200-122005600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:122002200-122005600	Weak transcription	NH-A	brain
3	chr8:122002800-122005600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:122003000-122005600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:122003000-122005600	Weak transcription	HSMM	muscle
6	chr8:122005200-122006000	Enhancers	Osteobl	bone
7	chr8:122005200-122006200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:122005200-122006200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:122005200-122006200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:122005200-122006200	Enhancers	HMEC	breast
11	chr8:122005400-122005800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:122005400-122005800	Enhancers	HSMMtube	muscle
13	chr8:122005400-122006000	Enhancers	NHDF-Ad	bronchial

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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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