Variant report

Variant	rs56147380
Chromosome Location	chr18:11670128-11670129
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs28479287	1.00[EUR][1000 genomes]
rs28485115	1.00[EUR][1000 genomes]
rs3912091	1.00[EUR][1000 genomes]
rs7243515	1.00[EUR][1000 genomes]
rs7244183	1.00[EUR][1000 genomes]
rs73395663	1.00[EUR][1000 genomes]
rs73408592	1.00[EUR][1000 genomes]
rs73943914	1.00[EUR][1000 genomes]
rs73947316	1.00[EUR][1000 genomes]
rs73947317	1.00[EUR][1000 genomes]
rs8085231	1.00[EUR][1000 genomes]
rs8085362	1.00[EUR][1000 genomes]
rs8086736	1.00[EUR][1000 genomes]
rs8087388	1.00[EUR][1000 genomes]
rs8089510	1.00[EUR][1000 genomes]
rs8093012	1.00[EUR][1000 genomes]
rs8093696	1.00[EUR][1000 genomes]
rs8094253	1.00[EUR][1000 genomes]
rs8094352	1.00[EUR][1000 genomes]
rs8094562	1.00[EUR][1000 genomes]
rs9949182	1.00[EUR][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	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 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	chr18:11668800-11670400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr18:11668800-11670400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:11669200-11670200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:11669200-11670600	Enhancers	Esophagus	oesophagus
5	chr18:11669400-11670200	Flanking Active TSS	NHEK	skin
6	chr18:11669600-11670200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:11669600-11670200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:11669600-11675000	Weak transcription	Right Atrium	heart
9	chr18:11669800-11670200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr18:11669800-11670200	Enhancers	HMEC	breast
11	chr18:11669800-11670400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:11669800-11670400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:11670000-11670400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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