Variant report

Variant	rs59344477
Chromosome Location	chr5:88593893-88593894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12653655	1.00[AMR][1000 genomes]
rs12654335	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12657507	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12657575	1.00[AMR][1000 genomes]
rs12659254	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1422088	0.80[ASN][1000 genomes]
rs1833588	1.00[AMR][1000 genomes]
rs34324795	1.00[AMR][1000 genomes]
rs60081637	1.00[AMR][1000 genomes]
rs60218625	1.00[AMR][1000 genomes]
rs6890064	1.00[AMR][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	nsv532159	chr5:88016214-88783092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv529543	chr5:88348147-88783092	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv830387	chr5:88547862-88682442	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv830388	chr5:88578939-88793870	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	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	chr5:88589800-88598800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:88590400-88596400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:88590600-88596000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:88590600-88596000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:88590800-88596000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:88593800-88594800	ZNF genes & repeats	GM12878-XiMat	blood

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

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