Variant report

Variant	rs10110578
Chromosome Location	chr8:119294282-119294283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr8:119293855-119294721	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:119293451-119295002	Raji	blood:	n/a	n/a
3	RUNX3	chr8:119294006-119294681	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:119294031-119294761	GM12878	blood:	n/a	n/a
5	PAX5	chr8:119294079-119294494	GM12878	blood:	n/a	n/a
6	TCF12	chr8:119294084-119294430	GM12878	blood:	n/a	n/a
7	BCL11A	chr8:119294051-119294494	GM12878	blood:	n/a	n/a
8	MAZ	chr8:119294072-119294553	GM12878	blood:	n/a	n/a
9	RCOR1	chr8:119294123-119294706	GM12878	blood:	n/a	n/a
10	EP300	chr8:119294151-119294597	GM12878	blood:	n/a	n/a
11	RFX5	chr8:119294013-119294418	GM12878	blood:	n/a	n/a
12	IRF4	chr8:119294057-119294612	GM12878	blood:	n/a	n/a
13	IRF4	chr8:119294071-119294586	GM12878	blood:	n/a	n/a
14	CHD1	chr8:119294245-119294681	GM12878	blood:	n/a	n/a
15	CUX1	chr8:119293847-119294603	GM12878	blood:	n/a	n/a
16	PAX5	chr8:119294138-119294478	GM12878	blood:	n/a	n/a
17	IKZF1	chr8:119293994-119294636	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:119294022-119294778	GM12891	blood:	n/a	n/a
19	RUNX3	chr8:119293730-119294755	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:119293951-119294429	GM12892	blood:	n/a	n/a
21	EP300	chr8:119293917-119294664	GM12878	blood:	n/a	n/a
22	SIN3A	chr8:119294191-119294539	GM12878	blood:	n/a	n/a
23	EBF1	chr8:119294109-119294525	GM12878	blood:	n/a	n/a
24	SMC3	chr8:119294077-119294472	GM12878	blood:	n/a	n/a
25	EP300	chr8:119293978-119294688	GM12878	blood:	n/a	n/a
26	POLR2A	chr8:119293364-119294867	GM12891	blood:	n/a	n/a
27	ELK1	chr8:119294204-119294536	GM12878	blood:	n/a	n/a
28	BATF	chr8:119294110-119294449	GM12878	blood:	n/a	n/a
29	BCLAF1	chr8:119294016-119294660	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:119294075-119294353	GM12891	blood:	n/a	n/a
31	SPI1	chr8:119294082-119294791	GM12878	blood:	n/a	n/a
32	PAX5	chr8:119294110-119294462	GM12878	blood:	n/a	n/a
33	POU2F2	chr8:119293954-119294537	GM12878	blood:	n/a	n/a
34	ATF2	chr8:119293955-119294652	GM12878	blood:	n/a	n/a
35	MXI1	chr8:119294072-119294619	GM12878	blood:	n/a	n/a
36	TBP	chr8:119294078-119294657	GM12878	blood:	n/a	n/a
37	WRNIP1	chr8:119294215-119294682	GM12878	blood:	n/a	n/a
38	NRF1	chr8:119294272-119294310	GM12878	blood:	n/a	n/a
39	FOXM1	chr8:119293963-119294645	GM12878	blood:	n/a	n/a
40	POU2F2	chr8:119294094-119294419	GM12878	blood:	n/a	n/a
41	CHD2	chr8:119293881-119294695	GM12878	blood:	n/a	n/a
42	PAX5	chr8:119294037-119294685	GM12878	blood:	n/a	n/a
43	NFYB	chr8:119294188-119294300	GM12878	blood:	n/a	n/a
44	SP1	chr8:119294094-119294609	GM12878	blood:	n/a	n/a
45	MAX	chr8:119294106-119294531	GM12878	blood:	n/a	n/a
46	SPI1	chr8:119294252-119294458	GM12878	blood:	n/a	n/a
47	SP1	chr8:119294075-119294562	GM12878	blood:	n/a	n/a
48	POLR2A	chr8:119294006-119294540	GM12892	blood:	n/a	n/a
49	ZNF384	chr8:119294130-119294463	GM12878	blood:	n/a	n/a
50	TCF12	chr8:119294129-119294422	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000225885	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10955869	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs34345158	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3860884	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3900914	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4093060	0.81[TSI][hapmap]
rs4637872	0.91[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs6992488	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7000136	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs7465623	0.81[CEU][hapmap]
rs9297582	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119286200-119298800	Weak transcription	Esophagus	oesophagus
2	chr8:119290200-119296600	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:119290400-119295000	Enhancers	Primary B cells from cord blood	blood
4	chr8:119290400-119299000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:119292400-119306200	Weak transcription	Brain Angular Gyrus	brain
6	chr8:119293000-119303400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:119293200-119294400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:119293200-119303200	Weak transcription	Fetal Thymus	thymus
9	chr8:119293400-119295000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr8:119293600-119294600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:119293600-119295000	Flanking Active TSS	GM12878-XiMat	blood
12	chr8:119293800-119294600	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:119293800-119294800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:119294200-119294400	Enhancers	Adipose Nuclei	Adipose
15	chr8:119294200-119294600	Enhancers	Thymus	Thymus
16	chr8:119294200-119294800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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