Variant report

Variant	rs17128165
Chromosome Location	chr1:86207434-86207435
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86206067..86207782-chr1:86208846..86210943,3	K562	blood:
2	chr1:86206120..86207782-chr1:86209330..86210943,2	K562	blood:

Variant related genes	Relation type
ENSG00000171502	Chromatin interaction

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]
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]
rs17128242	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	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86191600-86210400	Weak transcription	Fetal Lung	lung
2	chr1:86196600-86208200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86199000-86211600	Weak transcription	GM12878-XiMat	blood
4	chr1:86202400-86209400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:86205600-86207800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:86206200-86208800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:86206800-86208000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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