Variant report

Variant	rs8058294
Chromosome Location	chr16:71527305-71527306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr16:71525055-71527532	PBDE	blood:	n/a	n/a
2	SPI1	chr16:71527239-71527460	K562	blood:	n/a	n/a
3	SPI1	chr16:71527227-71527605	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:71521453..71523218-chr16:71526940..71528952,2	MCF-7	breast:
2	chr16:71525366..71527670-chr16:71529171..71530675,2	K562	blood:
3	chr16:71518517..71520034-chr16:71526306..71528350,2	K562	blood:
4	chr16:71516946..71520167-chr16:71520825..71527785,6	MCF-7	breast:
5	chr16:71494254..71496251-chr16:71526160..71529002,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261611	TF binding region
ZNF19	TF binding region
ENSG00000167377	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000261611	Chromatin interaction
ENSG00000247324	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10500558	0.93[ASN][1000 genomes]
rs11640165	0.93[ASN][1000 genomes]
rs11641492	0.93[ASN][1000 genomes]
rs11643101	0.82[JPT][hapmap]
rs11643216	0.93[ASN][1000 genomes]
rs11644434	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs11647749	0.93[ASN][1000 genomes]
rs12446461	0.88[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs13331346	0.95[ASN][1000 genomes]
rs1609868	0.88[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs1609869	0.87[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs16973266	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs172649	0.80[CHB][hapmap]
rs2004672	0.90[ASN][1000 genomes]
rs2070832	0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2288486	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288487	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2288488	0.98[ASN][1000 genomes]
rs2303788	0.87[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs2432524	0.93[CHB][hapmap]
rs28372238	0.92[ASN][1000 genomes]
rs310334	0.88[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs35373081	0.94[ASN][1000 genomes]
rs35916432	0.86[ASN][1000 genomes]
rs36063092	0.82[ASN][1000 genomes]
rs3813743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4149498	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4503795	0.92[ASN][1000 genomes]
rs4620964	0.81[ASN][1000 genomes]
rs58134724	1.00[ASN][1000 genomes]
rs58452291	0.81[ASN][1000 genomes]
rs58719913	0.93[ASN][1000 genomes]
rs6499523	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7184543	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7186241	0.93[ASN][1000 genomes]
rs7187165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7187354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7188342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7199026	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7199373	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7200335	0.90[ASN][1000 genomes]
rs7200431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7202662	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7202953	0.94[ASN][1000 genomes]
rs730470	0.88[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs732318	0.87[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs74026831	0.93[ASN][1000 genomes]
rs74027246	0.93[ASN][1000 genomes]
rs8044068	0.90[ASN][1000 genomes]
rs8044561	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs8051212	0.93[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs8053662	0.93[ASN][1000 genomes]
rs8058776	0.88[ASN][1000 genomes]
rs8061078	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs9302623	0.93[ASN][1000 genomes]
rs9926110	1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs9928243	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs9933680	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs9935426	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9936249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9940771	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv906892	chr16:71526720-71570413	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71525200-71527400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:71527000-71527800	Enhancers	K562	blood

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