Variant report

Variant	rs134485
Chromosome Location	chr22:28724728-28724729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10483148	0.86[EUR][1000 genomes]
rs10483150	0.86[EUR][1000 genomes]
rs134498	0.86[EUR][1000 genomes]
rs134501	0.86[EUR][1000 genomes]
rs134503	0.86[EUR][1000 genomes]
rs134504	0.86[EUR][1000 genomes]
rs134505	0.86[EUR][1000 genomes]
rs134508	0.86[EUR][1000 genomes]
rs134509	0.86[EUR][1000 genomes]
rs134510	0.86[EUR][1000 genomes]
rs134512	0.86[EUR][1000 genomes]
rs134513	0.86[EUR][1000 genomes]
rs134515	0.86[EUR][1000 genomes]
rs134516	0.86[EUR][1000 genomes]
rs134521	0.86[EUR][1000 genomes]
rs134528	0.81[EUR][1000 genomes]
rs16986244	0.81[EUR][1000 genomes]
rs16986248	0.81[EUR][1000 genomes]
rs16986251	0.86[EUR][1000 genomes]
rs16986254	0.86[EUR][1000 genomes]
rs16986257	0.86[EUR][1000 genomes]
rs16986266	0.86[EUR][1000 genomes]
rs16986311	0.86[EUR][1000 genomes]
rs16986314	0.86[EUR][1000 genomes]
rs16986400	0.86[EUR][1000 genomes]
rs16986433	0.86[EUR][1000 genomes]
rs16986438	0.86[EUR][1000 genomes]
rs16986451	0.81[EUR][1000 genomes]
rs16986469	0.81[EUR][1000 genomes]
rs16986502	0.86[EUR][1000 genomes]
rs5762573	0.86[EUR][1000 genomes]
rs79104	0.86[EUR][1000 genomes]
rs79107	0.86[EUR][1000 genomes]
rs79111	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28712200-28725600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:28717200-28726400	Weak transcription	Brain Germinal Matrix	brain
3	chr22:28720200-28724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:28722800-28724800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:28723800-28725000	Weak transcription	Fetal Brain Female	brain
6	chr22:28724000-28725800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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