Variant report

Variant	rs72684563
Chromosome Location	chr14:42092565-42092566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10131184	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10149052	0.80[AMR][1000 genomes]
rs10483526	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1111177	0.93[EUR][1000 genomes]
rs1111179	0.89[EUR][1000 genomes]
rs11157240	0.80[EUR][1000 genomes]
rs11157241	0.86[EUR][1000 genomes]
rs1137567	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431444	0.92[EUR][1000 genomes]
rs1609735	0.91[EUR][1000 genomes]
rs17781288	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1950831	0.98[EUR][1000 genomes]
rs1950834	0.92[EUR][1000 genomes]
rs1950835	0.93[EUR][1000 genomes]
rs1950836	0.83[EUR][1000 genomes]
rs1950838	0.97[EUR][1000 genomes]
rs1956450	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2121708	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4356390	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61990286	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61990288	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61990289	0.92[EUR][1000 genomes]
rs6572099	0.96[EUR][1000 genomes]
rs7148091	0.91[EUR][1000 genomes]
rs8003822	0.97[EUR][1000 genomes]
rs8007172	0.94[EUR][1000 genomes]
rs8013655	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047300	chr14:41671653-42361098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831164	chr14:41673017-42103168	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv533968	chr14:41882101-42327882	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1042078	chr14:41993985-42120143	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758353	chr14:42045873-42259511	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2759983	chr14:42045873-42259511	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42091200-42092600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:42092200-42092600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:42092200-42092800	Enhancers	Fetal Lung	lung
4	chr14:42092400-42092600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr14:42092400-42092800	Enhancers	Primary hematopoietic stem cells	blood

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