Variant report

Variant	rs72932399
Chromosome Location	chr1:69967059-69967060
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs72932368	1.00[AMR][1000 genomes]
rs72932371	1.00[AMR][1000 genomes]
rs72932373	1.00[AMR][1000 genomes]
rs72932386	1.00[AMR][1000 genomes]
rs72932387	1.00[AMR][1000 genomes]
rs72932392	1.00[AMR][1000 genomes]
rs72932395	1.00[AMR][1000 genomes]
rs72934430	1.00[AFR][1000 genomes]
rs72934431	1.00[AFR][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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv546451	chr1:69894849-69975660	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69960800-69970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:69964400-69969200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:69965400-69968600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:69965600-69968600	Weak transcription	K562	blood
5	chr1:69965800-69968400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:69966000-69968200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:69966800-69967200	Enhancers	hESC Derived CD184+ Endoderm 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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