Variant report

Variant	rs10502611
Chromosome Location	chr18:30448215-30448216
allele	C/T
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]
rs10502612	1.00[AMR][1000 genomes]
rs10502613	1.00[AMR][1000 genomes]
rs12104009	1.00[AMR][1000 genomes]
rs16959892	1.00[AMR][1000 genomes]
rs16963996	1.00[AMR][1000 genomes]
rs16964030	1.00[AMR][1000 genomes]
rs16964056	1.00[AMR][1000 genomes]
rs28516912	1.00[AMR][1000 genomes]
rs28521293	1.00[AMR][1000 genomes]
rs28553954	1.00[AMR][1000 genomes]
rs28687635	1.00[AMR][1000 genomes]
rs55668667	1.00[AMR][1000 genomes]
rs73413332	1.00[AMR][1000 genomes]
rs73413358	1.00[AMR][1000 genomes]
rs73413363	1.00[AMR][1000 genomes]
rs73413368	1.00[AMR][1000 genomes]
rs8089110	1.00[AMR][1000 genomes]
rs8090546	1.00[AMR][1000 genomes]
rs8096286	1.00[AMR][1000 genomes]
rs9948188	1.00[AMR][1000 genomes]
rs9960717	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30446000-30453600	Enhancers	Primary B cells from peripheral blood	blood
2	chr18:30446600-30449800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:30447000-30449800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr18:30447400-30449000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:30447600-30448400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:30447600-30448600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:30447600-30450000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr18:30447800-30448400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr18:30447800-30448800	Enhancers	Fetal Lung	lung
10	chr18:30447800-30449000	Enhancers	Fetal Kidney	kidney
11	chr18:30447800-30453200	Enhancers	Primary B cells from cord blood	blood
12	chr18:30448000-30448600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:30448000-30449200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr18:30448200-30448400	Flanking Active TSS	Fetal Brain Male	brain
15	chr18:30448200-30448400	Bivalent Enhancer	HepG2	liver
16	chr18:30448200-30448600	Flanking Active TSS	Fetal Brain Female	brain
17	chr18:30448200-30449600	Weak transcription	hESC Derived CD56+ Ectoderm 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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