Variant report

Variant	rs9928243
Chromosome Location	chr16:71541641-71541642
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71533954..71535793-chr16:71540194..71541859,2	K562	blood:
2	chr16:71539599..71541641-chr16:71558736..71562007,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140835	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10500558	0.99[ASN][1000 genomes]
rs11640165	0.99[ASN][1000 genomes]
rs11641492	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11643216	0.99[ASN][1000 genomes]
rs11644434	0.81[CHB][hapmap]
rs11647749	0.98[ASN][1000 genomes]
rs12446461	0.88[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs13331346	0.92[ASN][1000 genomes]
rs1609868	0.88[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1609869	0.88[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16973266	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2004672	0.97[ASN][1000 genomes]
rs2070832	0.88[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2288486	0.94[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2288487	1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2288488	0.94[ASN][1000 genomes]
rs2303788	0.88[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2432524	0.88[CHB][hapmap]
rs28372238	0.97[ASN][1000 genomes]
rs310334	0.89[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs35373081	0.91[ASN][1000 genomes]
rs35916432	0.92[ASN][1000 genomes]
rs36063092	0.80[ASN][1000 genomes]
rs3813743	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4149498	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4503795	0.93[ASN][1000 genomes]
rs58134724	0.92[ASN][1000 genomes]
rs58452291	0.87[ASN][1000 genomes]
rs58719913	0.99[ASN][1000 genomes]
rs59819114	0.84[ASN][1000 genomes]
rs6499523	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7184543	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7186241	0.98[ASN][1000 genomes]
rs7187165	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7187354	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs7188342	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7199026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7199373	0.92[ASN][1000 genomes]
rs7200335	0.95[ASN][1000 genomes]
rs7200431	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs7202662	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7202953	0.94[ASN][1000 genomes]
rs730470	0.88[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs732318	0.88[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs74026831	0.98[ASN][1000 genomes]
rs74027246	0.99[ASN][1000 genomes]
rs8044068	0.97[ASN][1000 genomes]
rs8044561	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs8051212	0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs8053662	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8058294	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs8058776	0.83[ASN][1000 genomes]
rs8061078	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs9302623	0.93[ASN][1000 genomes]
rs9926110	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs9933680	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9935426	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs9936249	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs9940771	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9928243	CBFB	cis	parietal	SCAN
rs9928243	TPPP3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71537800-71543200	Weak transcription	Pancreas	Pancrea

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