Variant report

Variant	rs28514390
Chromosome Location	chr5:126841612-126841613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126838605..126840321-chr5:126840480..126842738,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10043977	1.00[AMR][1000 genomes]
rs10063277	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10063666	1.00[AMR][1000 genomes]
rs10155548	1.00[AMR][1000 genomes]
rs10155578	1.00[AMR][1000 genomes]
rs10452551	1.00[AMR][1000 genomes]
rs10478768	1.00[AMR][1000 genomes]
rs13361500	1.00[AMR][1000 genomes]
rs13436184	1.00[AMR][1000 genomes]
rs13436719	1.00[AMR][1000 genomes]
rs28439085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28535011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57261222	1.00[AMR][1000 genomes]
rs58086571	1.00[AMR][1000 genomes]
rs61631930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331301	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333162	1.00[AMR][1000 genomes]
rs73335012	1.00[AMR][1000 genomes]
rs73335024	1.00[AMR][1000 genomes]
rs73335031	1.00[AMR][1000 genomes]
rs73335039	1.00[AMR][1000 genomes]
rs73335045	1.00[AMR][1000 genomes]
rs73783903	1.00[AMR][1000 genomes]
rs73785582	1.00[AMR][1000 genomes]
rs73785583	1.00[AMR][1000 genomes]
rs73786118	1.00[AMR][1000 genomes]
rs9327441	1.00[AMR][1000 genomes]
rs9327442	1.00[AMR][1000 genomes]
rs9327443	1.00[AMR][1000 genomes]
rs9327444	1.00[AMR][1000 genomes]
rs9327445	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327446	1.00[AMR][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	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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126841200-126843000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:126841200-126843000	Enhancers	Fetal Brain Male	brain
3	chr5:126841400-126842000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:126841400-126842000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:126841400-126842600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:126841600-126843000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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