Variant report

Variant	rs55654285
Chromosome Location	chr5:126907080-126907081
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17164785	1.00[EUR][1000 genomes]
rs17839686	0.93[EUR][1000 genomes]
rs34236997	1.00[ASN][1000 genomes]
rs55749092	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57117879	1.00[ASN][1000 genomes]
rs58380010	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60285859	1.00[ASN][1000 genomes]
rs60654462	1.00[ASN][1000 genomes]
rs61220586	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61736664	0.93[EUR][1000 genomes]
rs6875028	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893537	1.00[ASN][1000 genomes]
rs6893841	1.00[ASN][1000 genomes]
rs6893881	1.00[ASN][1000 genomes]
rs6894854	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898899	1.00[ASN][1000 genomes]
rs73335069	1.00[ASN][1000 genomes]
rs73335075	1.00[ASN][1000 genomes]
rs73335078	1.00[ASN][1000 genomes]
rs73335089	1.00[ASN][1000 genomes]
rs73335092	1.00[ASN][1000 genomes]
rs73783907	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73783908	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783909	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783910	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783911	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783912	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783913	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783914	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783917	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783922	1.00[ASN][1000 genomes]
rs73783923	1.00[ASN][1000 genomes]
rs73783924	1.00[ASN][1000 genomes]
rs73783925	1.00[ASN][1000 genomes]
rs7705105	1.00[ASN][1000 genomes]
rs7710290	1.00[ASN][1000 genomes]
rs7715074	1.00[ASN][1000 genomes]
rs7723932	1.00[ASN][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv4990	chr5:126899519-126920342	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126903600-126907600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:126905600-126908600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:126906200-126909200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:126906400-126907200	Enhancers	GM12878-XiMat	blood
5	chr5:126907000-126907800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:126907000-126907800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:126907000-126908000	Enhancers	Colon Smooth Muscle	Colon
8	chr5:126907000-126908200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:126907000-126908800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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