Variant report

Variant	rs73333003
Chromosome Location	chr8:121988166-121988167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16894513	1.00[AMR][1000 genomes]
rs16894535	1.00[AMR][1000 genomes]
rs16894536	1.00[AMR][1000 genomes]
rs16894539	1.00[AMR][1000 genomes]
rs16894587	1.00[AMR][1000 genomes]
rs28688078	1.00[AMR][1000 genomes]
rs4545106	1.00[AMR][1000 genomes]
rs61273259	1.00[AMR][1000 genomes]
rs73315275	1.00[AMR][1000 genomes]
rs73317178	1.00[AMR][1000 genomes]
rs73317192	1.00[AMR][1000 genomes]
rs73318909	1.00[AMR][1000 genomes]
rs73318914	1.00[AMR][1000 genomes]
rs73318917	1.00[AMR][1000 genomes]
rs73333013	0.80[AFR][1000 genomes]
rs73333015	0.85[AFR][1000 genomes]
rs73333023	1.00[AMR][1000 genomes]
rs73333028	1.00[AMR][1000 genomes]
rs7818684	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891423	chr8:121847643-121994660	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121981200-121988600	Weak transcription	Fetal Lung	lung
2	chr8:121983800-121988400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:121984000-121988200	Weak transcription	Osteobl	bone
4	chr8:121985400-121989800	Weak transcription	HSMMtube	muscle
5	chr8:121985600-121988200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:121985600-121988600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:121985800-121988200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:121985800-121988400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:121985800-121989400	Weak transcription	HSMM	muscle
10	chr8:121987400-121988200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:121987800-121988800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:121987800-121989200	Enhancers	NHLF	lung
13	chr8:121987800-121990000	Enhancers	NHDF-Ad	bronchial
14	chr8:121988000-121988400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:121988000-121988600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:121988000-121988600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:121988000-121988800	Enhancers	Fetal Stomach	stomach

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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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