Variant report

Variant	rs7706721
Chromosome Location	chr5:112825706-112825707
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	CEBPB	chr5:112824567-112825739	HCT-116	colon:	n/a	n/a
2	SETDB1	chr5:112825684-112826422	U2OS	brain:	n/a	n/a
3	RCOR1	chr5:112822825-112826281	IMR90	lung:	n/a	n/a
4	SETDB1	chr5:112825034-112826408	K562	blood:	n/a	n/a
5	MAZ	chr5:112823544-112826068	IMR90	lung:	n/a	chr5:112825226-112825235 chr5:112825227-112825236
6	CBX3	chr5:112823731-112825907	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
MCC	TF binding region
RNU4ATAC13P	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10038521	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10051115	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10053341	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs10056194	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10061462	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10065790	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10071684	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10072503	0.83[ASN][1000 genomes]
rs10077431	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10078214	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs10434754	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11241213	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13154300	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13159509	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13164326	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13169748	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13170435	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13171482	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs13171630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13174075	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs13174206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13180516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13181534	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13181732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13181944	0.83[ASN][1000 genomes]
rs13182972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13183383	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13187823	0.83[ASN][1000 genomes]
rs13189050	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13362189	0.83[ASN][1000 genomes]
rs13436825	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17325825	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17327964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17331844	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17388260	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17389165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1816062	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1922678	1.00[JPT][hapmap]
rs1922679	1.00[JPT][hapmap]
rs2162841	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2248930	0.86[CHB][hapmap]
rs2914198	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2972689	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2972690	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs33992630	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34147627	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34324763	0.88[ASN][1000 genomes]
rs348928	0.86[CHB][hapmap]
rs348929	0.86[CHB][hapmap]
rs348930	0.86[CHB][hapmap]
rs348931	0.86[CHB][hapmap]
rs348932	0.86[CHB][hapmap]
rs348947	0.86[CHB][hapmap]
rs348956	0.86[CHB][hapmap]
rs348961	0.86[CHB][hapmap]
rs348962	0.86[CHB][hapmap]
rs348963	0.86[CHB][hapmap]
rs34951736	0.83[ASN][1000 genomes]
rs35093510	0.93[ASN][1000 genomes]
rs35193208	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35359071	0.83[ASN][1000 genomes]
rs35926701	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35933960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36023163	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs367943	0.86[CHB][hapmap]
rs4438866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs444322	0.86[CHB][hapmap]
rs455435	0.86[CHB][hapmap]
rs460079	0.86[CHB][hapmap]
rs463167	0.86[CHB][hapmap]
rs463249	0.86[CHB][hapmap]
rs644154	0.86[CHB][hapmap]
rs6594713	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6594714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs66540465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66572866	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67320720	0.83[ASN][1000 genomes]
rs67693032	0.83[ASN][1000 genomes]
rs6867579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6870401	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6871934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6872490	0.85[EUR][1000 genomes]
rs6874175	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6879257	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6883102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6883547	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6887482	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6887914	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6890874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6896843	0.83[ASN][1000 genomes]
rs71577447	0.83[ASN][1000 genomes]
rs71577448	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72792189	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7708831	0.88[ASN][1000 genomes]
rs7709646	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7714760	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7717630	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7718203	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7718616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7727501	0.85[CHB][hapmap]
rs7729269	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7731231	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8180416	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9326890	0.83[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9326891	0.84[CEU][hapmap];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112823800-112826800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr5:112824400-112825800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:112824400-112825800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr5:112824600-112825800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr5:112824600-112826000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:112824600-112826000	Enhancers	Dnd41	blood
7	chr5:112824800-112825800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:112824800-112826000	Enhancers	NHLF	lung
9	chr5:112825000-112825800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:112825000-112825800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:112825000-112826000	Enhancers	HMEC	breast
12	chr5:112825000-112826000	Enhancers	NHEK	skin
13	chr5:112825200-112825800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:112825200-112825800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
15	chr5:112825200-112825800	Enhancers	NHDF-Ad	bronchial
16	chr5:112825200-112825800	Enhancers	Osteobl	bone
17	chr5:112825400-112825800	Flanking Active TSS	HSMMtube	muscle
18	chr5:112825400-112827600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr5:112825600-112825800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:112825600-112825800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:112825600-112825800	Enhancers	NH-A	brain
22	chr5:112825600-112826000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:112825600-112826000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:112825600-112826000	Enhancers	HSMM	muscle
25	chr5:112825600-112828200	Weak transcription	Aorta	Aorta

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