Variant report

Variant	rs12659254
Chromosome Location	chr5:88584678-88584679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12653655	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12654335	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12657507	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12657575	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1422088	0.94[ASN][1000 genomes]
rs1833588	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34324795	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59344477	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60081637	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60218625	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6452807	1.00[AMR][1000 genomes]
rs6452810	1.00[AMR][1000 genomes]
rs6886996	1.00[AMR][1000 genomes]
rs6890064	1.00[AMR][1000 genomes]
rs7705947	1.00[AMR][1000 genomes]
rs7711573	0.88[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	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88576200-88589200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:88578800-88585000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:88579800-88585200	Weak transcription	Osteobl	bone
4	chr5:88579800-88585400	Weak transcription	NH-A	brain
5	chr5:88580000-88585200	Weak transcription	HSMMtube	muscle
6	chr5:88581600-88587000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:88581800-88586800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:88584600-88586400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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