Variant report

Variant	rs12104009
Chromosome Location	chr18:30466716-30466717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10502611	1.00[AMR][1000 genomes]
rs10502612	1.00[AMR][1000 genomes]
rs10502613	1.00[AMR][1000 genomes]
rs16959892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16963996	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964030	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16964056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28516912	1.00[AMR][1000 genomes]
rs28521293	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28553954	1.00[AMR][1000 genomes]
rs28687635	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55668667	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413332	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413358	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413363	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8089110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8090546	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8096286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9948188	1.00[AMR][1000 genomes]
rs9960717	0.83[AFR][1000 genomes];1.00[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	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
3	esv32785	chr18:30413359-30471471	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 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	chr18:30460400-30468800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr18:30460800-30470200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:30462800-30467200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:30463000-30468200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:30465800-30466800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr18:30466000-30469200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr18:30466000-30469200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr18:30466000-30469600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:30466200-30471200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr18:30466400-30467800	Weak transcription	Primary B cells from cord blood	blood
11	chr18:30466400-30468600	Weak transcription	HUES64 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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