Variant report

Variant	rs9944812
Chromosome Location	chr18:28743705-28743706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1550236	1.00[AMR][1000 genomes]
rs28670277	1.00[AMR][1000 genomes]
rs56032720	1.00[AMR][1000 genomes]
rs56143587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57174821	1.00[AMR][1000 genomes]
rs6506888	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6650636	1.00[AMR][1000 genomes]
rs73406930	0.86[AFR][1000 genomes]
rs73406952	1.00[AMR][1000 genomes]
rs73408320	1.00[AMR][1000 genomes]
rs73408895	1.00[AMR][1000 genomes]
rs73411004	1.00[AMR][1000 genomes]
rs8093017	0.86[AFR][1000 genomes]
rs9946032	1.00[AMR][1000 genomes]
rs9948334	1.00[AMR][1000 genomes]
rs9948830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9948904	1.00[AMR][1000 genomes]
rs9961104	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv132191	chr18:28739028-28745912	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv131242	chr18:28739028-28748058	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28737400-28746400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr18:28742800-28746600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:28743200-28744600	Enhancers	Primary T cells from cord blood	blood
4	chr18:28743200-28756000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:28743600-28744000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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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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