Variant report

Variant	rs10905718
Chromosome Location	chr10:6114856-6114857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr10:6114108-6114890	GM10847	blood:	n/a	n/a
2	NFIC	chr10:6114106-6115001	GM12878	blood:	n/a	n/a
3	CTCF	chr10:6114720-6114870	GM12872	blood:	n/a	n/a
4	RUNX3	chr10:6114315-6114986	GM12878	blood:	n/a	n/a
5	MAX	chr10:6114627-6114858	GM12878	blood:	n/a	n/a
6	ATF2	chr10:6114327-6115098	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:6114123-6114907	GM12878	blood:	n/a	n/a
8	SMC3	chr10:6114546-6114879	GM12878	blood:	n/a	n/a
9	STAT3	chr10:6114390-6114931	GM12878	blood:	n/a	chr10:6114524-6114531 chr10:6114666-6114686 chr10:6114793-6114805
10	IKZF1	chr10:6114382-6114990	GM12878	blood:	n/a	n/a
11	CUX1	chr10:6114408-6114935	GM12878	blood:	n/a	n/a
12	BATF	chr10:6114482-6114925	GM12878	blood:	n/a	n/a
13	EBF1	chr10:6114616-6114937	GM12878	blood:	n/a	n/a
14	PML	chr10:6113924-6115007	GM12878	blood:	n/a	chr10:6114607-6114615
15	EP300	chr10:6114471-6114905	GM12878	blood:	n/a	n/a
16	RUNX3	chr10:6114408-6115053	GM12878	blood:	n/a	n/a
17	TBL1XR1	chr10:6114342-6114969	GM12878	blood:	n/a	n/a
18	BCLAF1	chr10:6114375-6114940	GM12878	blood:	n/a	n/a
19	ZNF384	chr10:6114421-6114881	GM12878	blood:	n/a	n/a
20	RELA	chr10:6114256-6114913	GM19099	blood:	n/a	n/a
21	IRF3	chr10:6114738-6114953	GM12878	blood:	n/a	chr10:6114936-6114946 chr10:6114930-6114944 chr10:6114924-6114938 chr10:6114928-6114948 chr10:6114936-6114950 chr10:6114932-6114946 chr10:6114926-6114940 chr10:6114930-6114940
22	MAZ	chr10:6114461-6114912	GM12878	blood:	n/a	n/a
23	SP1	chr10:6114447-6114880	GM12878	blood:	n/a	n/a
24	FOXM1	chr10:6114208-6115032	GM12878	blood:	n/a	n/a
25	NFATC1	chr10:6114327-6114900	GM12878	blood:	n/a	n/a
26	MTA3	chr10:6113247-6114948	GM12878	blood:	n/a	n/a
27	BCLAF1	chr10:6114264-6114899	GM12878	blood:	n/a	n/a
28	CREB1	chr10:6114430-6115217	GM12878	blood:	n/a	n/a
29	CHD2	chr10:6114567-6114861	GM12878	blood:	n/a	n/a
30	ATF2	chr10:6114275-6115035	GM12878	blood:	n/a	n/a
31	BCL11A	chr10:6114462-6114913	GM12878	blood:	n/a	n/a
32	CREB1	chr10:6114249-6115185	GM12878	blood:	n/a	n/a
33	EP300	chr10:6114402-6114896	GM12878	blood:	n/a	n/a
34	NFIC	chr10:6114188-6115153	GM12878	blood:	n/a	n/a
35	BATF	chr10:6114546-6114937	GM12878	blood:	n/a	n/a
36	MTA3	chr10:6114155-6114958	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:6114486..6117388-chr10:6118975..6120679,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214015	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10905713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10905719	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11256593	0.87[ASN][1000 genomes]
rs11256601	0.84[ASN][1000 genomes]
rs12412095	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182410	0.82[ASN][1000 genomes]
rs3118469	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3118470	1.00[ASW][hapmap];0.86[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs3118471	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3134883	0.90[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4147359	0.92[GIH][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs4749955	0.95[CHB][hapmap];0.89[CHD][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs7078535	0.84[ASN][1000 genomes]
rs7907829	0.84[EUR][1000 genomes]
rs9633775	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv894815	chr10:6108439-6161781	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10905718	PFKP	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6107200-6115000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:6108000-6115600	Enhancers	Primary B cells from peripheral blood	blood
3	chr10:6109400-6115400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:6109400-6117400	Enhancers	Fetal Thymus	thymus
5	chr10:6111000-6115000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr10:6111200-6115000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:6111200-6115000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr10:6111400-6115200	Enhancers	Primary B cells from cord blood	blood
9	chr10:6111600-6115000	Enhancers	Primary T cells from cord blood	blood
10	chr10:6111600-6115000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr10:6111600-6115200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr10:6111600-6115200	Enhancers	Dnd41	blood
13	chr10:6113000-6115000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr10:6113000-6115200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:6113600-6115000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr10:6113600-6115000	Enhancers	Duodenum Mucosa	Duodenum
17	chr10:6113800-6115200	Flanking Active TSS	GM12878-XiMat	blood
18	chr10:6114000-6115000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr10:6114000-6116600	Weak transcription	Right Atrium	heart
20	chr10:6114200-6117000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:6114400-6115400	Enhancers	Thymus	Thymus
22	chr10:6114400-6117000	Weak transcription	Lung	lung
23	chr10:6114400-6117200	Weak transcription	Left Ventricle	heart
24	chr10:6114600-6115200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr10:6114600-6116400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:6114800-6115400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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