Variant report

Variant	rs73248391
Chromosome Location	chr20:15856454-15856455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13042482	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13045800	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs36058383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4387866	0.98[AFR][1000 genomes]
rs58565072	0.95[AFR][1000 genomes];0.93[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	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv833929	chr20:15765372-15977337	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15850800-15857800	Weak transcription	Spleen	Spleen
2	chr20:15855400-15856600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:15855400-15856600	Enhancers	Primary B cells from peripheral blood	blood
4	chr20:15855600-15856600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:15855600-15856600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr20:15855600-15856600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:15855600-15856600	Enhancers	Fetal Kidney	kidney
8	chr20:15855600-15856800	Enhancers	Primary B cells from cord blood	blood
9	chr20:15856200-15856600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr20:15856400-15856600	Enhancers	Fetal Brain Male	brain
11	chr20:15856400-15869800	Weak transcription	hESC Derived CD56+ Ectoderm 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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