Variant report

Variant	rs58482573
Chromosome Location	chr14:72900763-72900764
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1004477	0.83[AFR][1000 genomes]
rs10132956	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10139793	0.84[AMR][1000 genomes]
rs10149051	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12436819	0.84[AMR][1000 genomes]
rs17115702	0.84[AMR][1000 genomes]
rs2007903	0.83[AFR][1000 genomes]
rs2238190	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2302144	0.88[ASN][1000 genomes]
rs3819548	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4396471	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4396472	0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58470149	0.84[AMR][1000 genomes]
rs59336187	0.88[ASN][1000 genomes]
rs740536	0.90[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72891000-72908600	Weak transcription	Left Ventricle	heart
2	chr14:72895400-72901000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72899000-72901200	Weak transcription	Dnd41	blood
4	chr14:72899200-72901600	Weak transcription	HSMMtube	muscle
5	chr14:72900400-72900800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:72900400-72902800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:72900600-72901200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:72900600-72901400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr14:72900600-72901600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:72900600-72902600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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