Variant report

Variant	rs4735085
Chromosome Location	chr8:110076412-110076413
allele	A/C
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	CEBPD	chr8:110076204-110076617	K562	blood:	n/a	n/a
2	EGR1	chr8:110076353-110076663	K562	blood:	n/a	n/a
3	STAT3	chr8:110076374-110076656	MCF10A-Er-Src	breast:	n/a	n/a
4	CBX3	chr8:110076273-110076662	K562	blood:	n/a	n/a
5	FOS	chr8:110076305-110076664	MCF10A-Er-Src	breast:	n/a	chr8:110076472-110076479 chr8:110076472-110076481 chr8:110076471-110076482 chr8:110076471-110076481
6	JUND	chr8:110076355-110076623	H1-hESC	embryonic stem cell:	n/a	chr8:110076472-110076479 chr8:110076472-110076481 chr8:110076471-110076482 chr8:110076471-110076481
7	CUX1	chr8:110076341-110076506	GM12878	blood:	n/a	n/a
8	EGR1	chr8:110076394-110076667	K562	blood:	n/a	n/a
9	GATA1	chr8:110076006-110076929	PBDE	blood:	n/a	chr8:110076234-110076251 chr8:110076473-110076482 chr8:110076788-110076798
10	FOS	chr8:110076303-110076684	MCF10A-Er-Src	breast:	n/a	chr8:110076472-110076479 chr8:110076472-110076481 chr8:110076471-110076482 chr8:110076471-110076481
11	CEBPD	chr8:110076207-110076660	K562	blood:	n/a	n/a
12	MYC	chr8:110076333-110076598	K562	blood:	n/a	n/a
13	POLR2A	chr8:110076313-110076619	K562	blood:	n/a	n/a
14	TEAD4	chr8:110076242-110076674	K562	blood:	n/a	n/a
15	ARID3A	chr8:110076210-110076604	K562	blood:	n/a	n/a
16	FOS	chr8:110076106-110076659	MCF10A-Er-Src	breast:	n/a	chr8:110076472-110076479 chr8:110076472-110076481 chr8:110076471-110076482 chr8:110076471-110076481
17	TAL1	chr8:110076226-110076629	K562	blood:	n/a	chr8:110076420-110076429 chr8:110076234-110076252
18	MYC	chr8:110076359-110076636	MCF10A-Er-Src	breast:	n/a	n/a
19	GATA2	chr8:110076236-110076623	K562	blood:	n/a	chr8:110076473-110076482
20	STAT5A	chr8:110076280-110076675	K562	blood:	n/a	n/a
21	FOS	chr8:110076312-110076675	MCF10A-Er-Src	breast:	n/a	chr8:110076472-110076479 chr8:110076472-110076481 chr8:110076471-110076482 chr8:110076471-110076481
22	HDAC2	chr8:110076357-110076558	K562	blood:	n/a	n/a
23	EP300	chr8:110076403-110076711	GM12878	blood:	n/a	chr8:110076472-110076481
24	RCOR1	chr8:110076258-110076603	K562	blood:	n/a	n/a
25	ATF3	chr8:110076282-110076655	K562	blood:	n/a	n/a
26	JUND	chr8:110076254-110076670	K562	blood:	n/a	chr8:110076472-110076479 chr8:110076472-110076481 chr8:110076471-110076482 chr8:110076471-110076481
27	FOSL1	chr8:110076307-110076668	K562	blood:	n/a	chr8:110076472-110076479 chr8:110076470-110076481 chr8:110076472-110076481 chr8:110076471-110076482 chr8:110076471-110076481
28	STAT3	chr8:110076371-110076721	MCF10A-Er-Src	breast:	n/a	n/a
29	TEAD4	chr8:110076205-110076692	K562	blood:	n/a	n/a
30	GABPA	chr8:110076350-110076599	K562	blood:	n/a	n/a
31	FOSL1	chr8:110076340-110076574	K562	blood:	n/a	chr8:110076472-110076479 chr8:110076470-110076481 chr8:110076472-110076481 chr8:110076471-110076482 chr8:110076471-110076481
32	JUN	chr8:110076266-110076615	K562	blood:	n/a	chr8:110076472-110076479 chr8:110076472-110076481 chr8:110076471-110076482 chr8:110076471-110076481
33	EP300	chr8:110076234-110076633	K562	blood:	n/a	chr8:110076472-110076481
34	MYC	chr8:110076222-110076735	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000253796	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11985220	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11986219	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987335	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11988307	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11988432	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991062	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11991149	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11991184	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12155968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17434663	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34303319	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34429249	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4626570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4629838	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735088	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469230	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988997	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6991272	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72676886	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72676897	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72678603	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72678620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7823225	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7824947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834737	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1022273	chr8:110026712-110146600	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv539715	chr8:110026712-110146600	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891271	chr8:110054427-110101683	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4735085	RSPO2	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110065000-110077800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:110074800-110079000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:110075000-110078800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:110075000-110083400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:110075400-110077000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:110075800-110076600	Weak transcription	K562	blood
7	chr8:110076000-110076800	Active TSS	GM12878-XiMat	blood
8	chr8:110076000-110076800	Enhancers	Osteobl	bone
9	chr8:110076000-110077000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:110076000-110077200	Enhancers	NH-A	brain
11	chr8:110076400-110076800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:110076400-110076800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:110076400-110077400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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