Variant report

Variant	rs28659927
Chromosome Location	chr18:29369648-29369649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs9953118	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9953390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9953453	0.97[AFR][1000 genomes]
rs9955662	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9960352	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	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr18:29363200-29375600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29367800-29372200	Weak transcription	Fetal Intestine Large	intestine
3	chr18:29368400-29372200	Weak transcription	Fetal Intestine Small	intestine
4	chr18:29369000-29369800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr18:29369000-29369800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:29369000-29369800	Enhancers	HepG2	liver
7	chr18:29369400-29369800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:29369600-29369800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr18:29369600-29373600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:29369600-29375000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:29369600-29377200	Weak transcription	H9 Cell Line	embryonic stem cell

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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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