Variant report

Variant	rs893713
Chromosome Location	chr5:124461383-124461384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10059409	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10061454	0.87[AFR][1000 genomes]
rs1371380	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1371381	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2119005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2408304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4836149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6421892	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6873484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6889068	0.87[AFR][1000 genomes]
rs9327350	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327352	0.87[AFR][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	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv599658	chr5:124459547-124513012	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124456200-124470000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:124456200-124470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:124456400-124465000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:124460200-124461600	Enhancers	Fetal Lung	lung
5	chr5:124460600-124462200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:124460800-124461400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:124460800-124461400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:124460800-124461400	Enhancers	HSMMtube	muscle
9	chr5:124460800-124461400	Enhancers	NHDF-Ad	bronchial
10	chr5:124460800-124461600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:124461000-124461600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:124461000-124461600	Enhancers	A549	lung
13	chr5:124461000-124461600	Active TSS	NH-A	brain
14	chr5:124461200-124462400	Enhancers	Fetal Heart	heart

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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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