Variant report

Variant	rs73285719
Chromosome Location	chr14:39470945-39470946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs57566573	1.00[AMR][1000 genomes]
rs58371839	1.00[AMR][1000 genomes]
rs59371684	1.00[AMR][1000 genomes]
rs59919221	1.00[AMR][1000 genomes]
rs73277148	1.00[AMR][1000 genomes]
rs73277152	1.00[AMR][1000 genomes]
rs73283583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285766	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285774	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287662	1.00[AMR][1000 genomes]
rs73291562	1.00[AMR][1000 genomes]
rs73291565	1.00[AMR][1000 genomes]
rs73291581	1.00[AMR][1000 genomes]
rs73291596	1.00[AMR][1000 genomes]
rs73291598	1.00[AMR][1000 genomes]
rs73293309	1.00[AMR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39462200-39480400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:39463600-39476000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:39463600-39495200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:39463800-39473200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:39464200-39483000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:39464800-39471800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:39464800-39492600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:39465000-39473800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr14:39465600-39498200	Weak transcription	NH-A	brain
10	chr14:39466000-39472000	Weak transcription	Left Ventricle	heart
11	chr14:39466000-39481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:39466000-39483000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:39469200-39497400	Weak transcription	HSMM	muscle
14	chr14:39469600-39473000	Weak transcription	Adipose Nuclei	Adipose
15	chr14:39469600-39473400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:39470600-39474000	Active TSS	Right Atrium	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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