Variant report

Variant	rs11628431
Chromosome Location	chr14:42187572-42187573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10141927	0.87[CHB][hapmap]
rs10142030	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144980	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10872955	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623805	0.95[GIH][hapmap];0.92[JPT][hapmap]
rs11624410	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624415	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627839	0.95[GIH][hapmap];0.92[JPT][hapmap]
rs11847853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11848211	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1597048	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28778645	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34400201	0.86[ASN][1000 genomes]
rs36058907	0.86[ASN][1000 genomes]
rs6572108	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152885	0.86[ASN][1000 genomes]
rs8015451	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	nsv901738	chr14:42145461-42302552	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11628431	LRFN5	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42185000-42188000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr14:42185400-42192800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:42186600-42187800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr14:42187200-42188200	Enhancers	Primary hematopoietic stem cells	blood
5	chr14:42187400-42188200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:42187400-42188400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr14:42187400-42188400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr14:42187400-42188400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:42187400-42188800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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