Variant report

Variant	rs73050067
Chromosome Location	chr3:178817534-178817535
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:10)

rs_ID	r²[population]
rs73050054	0.82[EUR][1000 genomes]
rs73050055	0.82[EUR][1000 genomes]
rs73050056	0.82[EUR][1000 genomes]
rs73050057	0.82[EUR][1000 genomes]
rs73050062	1.00[EUR][1000 genomes]
rs73050071	1.00[EUR][1000 genomes]
rs73050073	1.00[EUR][1000 genomes]
rs73050075	1.00[EUR][1000 genomes]
rs73050076	1.00[EUR][1000 genomes]
rs73050083	0.97[EUR][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	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1792927	chr3:178734558-178877169	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv1841799	chr3:178739594-178884337	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178816600-178818400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:178816600-178818400	Weak transcription	HSMM	muscle
3	chr3:178816600-178818400	Weak transcription	NHLF	lung
4	chr3:178816600-178818600	Weak transcription	NH-A	brain
5	chr3:178816800-178818200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:178816800-178818400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:178816800-178818400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:178816800-178818400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:178816800-178818400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:178816800-178818400	Weak transcription	HSMMtube	muscle
11	chr3:178816800-178818400	Weak transcription	NHEK	skin
12	chr3:178816800-178818400	Weak transcription	Osteobl	bone
13	chr3:178817000-178818000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:178817000-178818200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:178817400-178818000	Weak transcription	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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