Variant report

Variant	rs60470427
Chromosome Location	chr14:65996950-65996951
allele	C/T
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	chr14:65996885-65997278	MCF-7	breast:	n/a	chr14:65997078-65997089
2	GATA3	chr14:65996816-65997193	MCF-7	breast:	n/a	n/a
3	FOXA1	chr14:65996946-65997200	T-47D	breast:	n/a	chr14:65997115-65997130

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65996757..65998904-chr14:66010555..66012729,2	MCF-7	breast:

Variant related genes	Relation type
EIF1AXP2	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs12433688	0.94[AFR][1000 genomes]
rs17102688	0.94[AFR][1000 genomes]
rs17102839	0.94[AFR][1000 genomes]
rs55674739	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55698845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55723633	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55954698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55967642	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56258162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56350757	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56401246	0.88[AFR][1000 genomes]
rs56821971	0.94[AFR][1000 genomes]
rs57228058	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57283810	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58087042	0.94[AFR][1000 genomes]
rs58160832	0.94[AFR][1000 genomes]
rs58873346	1.00[EUR][1000 genomes]
rs59328088	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60393585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61016861	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61417186	0.94[AFR][1000 genomes]
rs74056763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056773	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056775	0.94[AFR][1000 genomes]
rs74056779	1.00[EUR][1000 genomes]
rs74056782	0.94[AFR][1000 genomes]
rs74056784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056787	0.94[AFR][1000 genomes]
rs74056794	0.94[AFR][1000 genomes]
rs74056795	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056804	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056807	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056811	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056813	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056815	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056816	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058503	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74058507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058513	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058519	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058525	0.94[AFR][1000 genomes]
rs74058528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058529	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74058536	0.88[AFR][1000 genomes]
rs74058539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058541	0.94[AFR][1000 genomes]
rs74058545	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058546	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058547	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058548	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058549	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058550	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058551	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058553	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058554	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058556	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058557	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058562	0.94[AFR][1000 genomes]
rs74058563	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058564	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65984800-66003000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:65985000-66025200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:65995200-66028000	Weak transcription	Dnd41	blood
4	chr14:65995400-65997200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:65995400-65997600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:65995400-65998400	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:65995400-65998400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:65995400-65998800	Weak transcription	Ovary	ovary
9	chr14:65995400-66004600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:65995400-66004600	Weak transcription	Pancreas	Pancrea
11	chr14:65995400-66004600	Weak transcription	Thymus	Thymus
12	chr14:65995400-66006600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:65995400-66061000	Weak transcription	Gastric	stomach
14	chr14:65995600-65997200	ZNF genes & repeats	GM12878-XiMat	blood
15	chr14:65996000-65999000	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:65996400-65997800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:65996400-66004200	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links