Variant report

Variant	rs17128242
Chromosome Location	chr1:86227326-86227327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86225931..86227937-chr1:86257811..86259355,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs17127904	1.00[AFR][1000 genomes]
rs17127933	1.00[AFR][1000 genomes]
rs17127978	1.00[AFR][1000 genomes]
rs17127983	1.00[AFR][1000 genomes]
rs17127986	1.00[AFR][1000 genomes]
rs17127994	1.00[AFR][1000 genomes]
rs17128015	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128025	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128031	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128041	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128046	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128058	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128059	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128061	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128070	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128074	0.96[AMR][1000 genomes]
rs17128075	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128078	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128084	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128098	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128109	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128114	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128181	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128271	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128273	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128279	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128284	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128287	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128290	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128302	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17395346	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6672587	1.00[AFR][1000 genomes]
rs9658588	1.00[AFR][1000 genomes]
rs9658592	1.00[AFR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86222400-86241200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:86222400-86246400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86222400-86248200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:86222800-86254400	Weak transcription	Fetal Lung	lung
5	chr1:86226800-86238600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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