Variant report

Variant	rs13378199
Chromosome Location	chr13:48739658-48739659
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12100070	0.92[EUR][1000 genomes]
rs13378726	1.00[EUR][1000 genomes]
rs4448832	1.00[EUR][1000 genomes]
rs9316366	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595854	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9595857	1.00[EUR][1000 genomes]
rs9595869	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595872	0.83[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	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr13:48735400-48743600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:48735800-48740600	Weak transcription	NHEK	skin
3	chr13:48735800-48740800	Weak transcription	HMEC	breast
4	chr13:48736000-48739800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:48736200-48740600	Weak transcription	Esophagus	oesophagus
6	chr13:48737800-48740600	Weak transcription	Fetal Lung	lung
7	chr13:48738200-48739800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr13:48738200-48746200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr13:48739000-48739800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:48739000-48739800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:48739400-48740000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr13:48739600-48740200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr13:48739600-48741200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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