Variant report

Variant	rs73952550
Chromosome Location	chr18:28591069-28591070
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16961032	1.00[AMR][1000 genomes]
rs55727134	1.00[AMR][1000 genomes]
rs56327995	1.00[AMR][1000 genomes]
rs56883876	0.83[AMR][1000 genomes]
rs73952543	1.00[AMR][1000 genomes]
rs73952544	1.00[AMR][1000 genomes]
rs73952547	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833613	chr18:28446454-28623599	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28566200-28600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:28585800-28600600	Weak transcription	Esophagus	oesophagus
3	chr18:28586600-28591200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:28588600-28595400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:28590600-28591400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:28590600-28591400	Enhancers	NH-A	brain
7	chr18:28590600-28592400	Enhancers	HMEC	breast
8	chr18:28590800-28591200	Genic enhancers	NHEK	skin
9	chr18:28590800-28591600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:28590800-28592200	Enhancers	Stomach Mucosa	stomach
11	chr18:28591000-28591400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:28591000-28591400	Flanking Active TSS	A549	lung

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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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