Variant report

Variant	rs1539816
Chromosome Location	chr18:30384519-30384520
allele	A/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]
rs11872801	1.00[EUR][1000 genomes]
rs1403757	0.81[AFR][1000 genomes]
rs1403758	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16964121	1.00[EUR][1000 genomes]
rs1893244	0.86[AFR][1000 genomes]
rs1941256	0.87[AFR][1000 genomes]
rs1941282	1.00[TSI][hapmap]
rs714776	1.00[GIH][hapmap]
rs7235178	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73955287	1.00[EUR][1000 genomes]
rs8095980	0.81[AFR][1000 genomes]
rs9675424	0.86[AFR][1000 genomes]
rs9959382	1.00[GIH][hapmap]
rs9962968	1.00[TSI][hapmap]
rs9966457	1.00[EUR][1000 genomes];0.83[ASN][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	esv2758474	chr18:30383327-30574737	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2758720	chr18:30383327-30574737	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30380400-30385000	Enhancers	Primary B cells from peripheral blood	blood
2	chr18:30380600-30385200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:30381000-30384800	Enhancers	Primary B cells from cord blood	blood
4	chr18:30382800-30384800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:30383400-30384600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:30383400-30385200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:30383800-30385000	Enhancers	Fetal Kidney	kidney
8	chr18:30384400-30384800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:30384400-30389000	Enhancers	HepG2	liver

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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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