Variant report

Variant	rs28660318
Chromosome Location	chr14:65683539-65683540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10133129	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531694	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2275011	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2275012	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28440787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28475743	0.91[ASN][1000 genomes]
rs28557069	0.95[ASN][1000 genomes]
rs28698923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59307701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60242721	1.00[ASN][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	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv564932	chr14:65660502-65691545	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv564933	chr14:65667546-65710580	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv992816	chr14:65678629-65686596	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65672800-65691400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:65674000-65691400	Weak transcription	Thymus	Thymus
3	chr14:65675600-65687000	Weak transcription	Fetal Intestine Small	intestine
4	chr14:65675800-65687000	Weak transcription	Fetal Intestine Large	intestine
5	chr14:65678400-65683800	Weak transcription	GM12878-XiMat	blood
6	chr14:65678600-65683600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:65678600-65690600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:65678800-65684000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:65682000-65683600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:65682000-65689200	Weak transcription	Right Atrium	heart
11	chr14:65682200-65688200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr14:65683200-65683800	Enhancers	Brain Angular Gyrus	brain
13	chr14:65683200-65683800	Enhancers	Brain Germinal Matrix	brain
14	chr14:65683200-65683800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:65683200-65684000	Enhancers	Brain Anterior Caudate	brain
16	chr14:65683200-65684200	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:65683200-65684200	Enhancers	Brain Substantia Nigra	brain
18	chr14:65683400-65684000	Enhancers	Brain Hippocampus Middle	brain

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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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