Variant report

Variant	rs56210306
Chromosome Location	chr14:47726772-47726773
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:14)

rs_ID	r²[population]
rs11844263	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11849357	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12147393	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12147880	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12433300	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17672113	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4900734	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56097303	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56383021	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61993077	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61993086	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61995427	0.88[EUR][1000 genomes]
rs8006555	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8010156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040847	chr14:46905206-47869359	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv542085	chr14:46905206-47869359	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1049865	chr14:46905406-47869220	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS 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	nsv542087	chr14:46905406-47869220	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1048316	chr14:47297113-47885723	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv901890	chr14:47594099-47729711	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv901892	chr14:47620548-47729711	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1046326	chr14:47629646-47845903	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv564774	chr14:47702469-47729127	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv564787	chr14:47709799-47729127	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47725200-47727800	Enhancers	Primary T cells from cord blood	blood
2	chr14:47725400-47727800	Enhancers	Fetal Thymus	thymus
3	chr14:47726200-47726800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:47726600-47728800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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