Variant report

Variant	rs2581814
Chromosome Location	chr3:53084289-53084290
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	EP300	chr3:53084139-53084293	HepG2	liver:	n/a	chr3:53084184-53084198
2	FOS	chr3:53084244-53084444	MCF10A-Er-Src	breast:	n/a	n/a
3	NR3C1	chr3:53083993-53084449	A549	lung:	n/a	chr3:53084074-53084089 chr3:53084068-53084075
4	NR3C1	chr3:53084063-53084318	A549	lung:	n/a	chr3:53084074-53084089 chr3:53084068-53084075
5	NR3C1	chr3:53083978-53084381	A549	lung:	n/a	chr3:53084074-53084089 chr3:53084068-53084075
6	JUN	chr3:53084197-53084397	HepG2	liver:	n/a	n/a
7	CEBPB	chr3:53084000-53084311	HepG2	liver:	n/a	n/a
8	FOS	chr3:53084277-53084538	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr3:53084048-53084335	MCF10A-Er-Src	breast:	n/a	n/a
10	NR3C1	chr3:53083983-53084500	A549	lung:	n/a	chr3:53084074-53084089 chr3:53084068-53084075
11	NR3C1	chr3:53083925-53084378	A549	lung:	n/a	chr3:53084074-53084089 chr3:53084068-53084075
12	CEBPB	chr3:53084000-53084381	HepG2	liver:	n/a	n/a
13	NR3C1	chr3:53083999-53084297	A549	lung:	n/a	chr3:53084074-53084089 chr3:53084068-53084075
14	CEBPB	chr3:53084039-53084293	Hela-S3	cervix:	n/a	n/a
15	FOS	chr3:53084246-53084446	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000266635	TF binding region
SFMBT1	TF binding region

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10049313	1.00[EUR][1000 genomes]
rs12486028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12633559	1.00[AMR][1000 genomes]
rs13064076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13066997	1.00[EUR][1000 genomes]
rs1986738	1.00[EUR][1000 genomes]
rs1986739	1.00[EUR][1000 genomes]
rs1991567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2001733	1.00[EUR][1000 genomes]
rs2001734	1.00[EUR][1000 genomes]
rs2246888	1.00[EUR][1000 genomes]
rs2246889	1.00[EUR][1000 genomes]
rs2276819	1.00[EUR][1000 genomes]
rs2276821	1.00[EUR][1000 genomes]
rs2336155	1.00[EUR][1000 genomes]
rs2336157	1.00[EUR][1000 genomes]
rs2336158	1.00[EUR][1000 genomes]
rs2336159	1.00[EUR][1000 genomes]
rs2336161	1.00[EUR][1000 genomes]
rs2336556	1.00[EUR][1000 genomes]
rs2336557	1.00[EUR][1000 genomes]
rs2336559	1.00[EUR][1000 genomes]
rs2535622	1.00[EUR][1000 genomes]
rs2535626	1.00[EUR][1000 genomes]
rs2535628	1.00[EUR][1000 genomes]
rs2535631	1.00[EUR][1000 genomes]
rs2535632	1.00[EUR][1000 genomes]
rs2535636	1.00[EUR][1000 genomes]
rs2535637	1.00[EUR][1000 genomes]
rs2535638	1.00[EUR][1000 genomes]
rs2535642	1.00[EUR][1000 genomes]
rs2564925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2564927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2564943	1.00[EUR][1000 genomes]
rs2564946	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2581781	1.00[AMR][1000 genomes]
rs2710315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710316	1.00[EUR][1000 genomes]
rs2710324	1.00[EUR][1000 genomes]
rs2710325	1.00[EUR][1000 genomes]
rs2710327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710340	1.00[EUR][1000 genomes]
rs2710343	1.00[EUR][1000 genomes]
rs2710344	1.00[EUR][1000 genomes]
rs2878633	1.00[EUR][1000 genomes]
rs2878634	1.00[EUR][1000 genomes]
rs2878635	1.00[EUR][1000 genomes]
rs2878636	1.00[EUR][1000 genomes]
rs4234637	1.00[EUR][1000 genomes]
rs4234640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687555	1.00[EUR][1000 genomes]
rs4687557	1.00[EUR][1000 genomes]
rs4687659	1.00[EUR][1000 genomes]
rs4687661	1.00[EUR][1000 genomes]
rs4687665	1.00[EUR][1000 genomes]
rs4687666	1.00[EUR][1000 genomes]
rs4687667	1.00[EUR][1000 genomes]
rs4687668	1.00[EUR][1000 genomes]
rs4687669	1.00[EUR][1000 genomes]
rs4687670	1.00[EUR][1000 genomes]
rs4687671	1.00[EUR][1000 genomes]
rs4687674	1.00[EUR][1000 genomes]
rs4687675	1.00[EUR][1000 genomes]
rs4687685	1.00[EUR][1000 genomes]
rs4687690	1.00[EUR][1000 genomes]
rs55654539	1.00[AMR][1000 genomes]
rs57430179	1.00[EUR][1000 genomes]
rs58561805	1.00[AMR][1000 genomes]
rs59094265	1.00[EUR][1000 genomes]
rs59234300	1.00[AMR][1000 genomes]
rs61274383	1.00[EUR][1000 genomes]
rs61641433	1.00[EUR][1000 genomes]
rs6445537	1.00[EUR][1000 genomes]
rs6445540	1.00[EUR][1000 genomes]
rs6445542	1.00[EUR][1000 genomes]
rs6445548	1.00[EUR][1000 genomes]
rs6774869	1.00[EUR][1000 genomes]
rs6776862	1.00[EUR][1000 genomes]
rs6776990	1.00[EUR][1000 genomes]
rs6787916	1.00[EUR][1000 genomes]
rs6795138	1.00[EUR][1000 genomes]
rs6797070	1.00[EUR][1000 genomes]
rs72961745	1.00[EUR][1000 genomes]
rs72961755	1.00[EUR][1000 genomes]
rs72967404	1.00[EUR][1000 genomes]
rs72967414	1.00[AMR][1000 genomes]
rs7623667	1.00[EUR][1000 genomes]
rs7629350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7629528	1.00[EUR][1000 genomes]
rs7637212	1.00[EUR][1000 genomes]
rs7647534	1.00[EUR][1000 genomes]
rs7649515	1.00[EUR][1000 genomes]
rs7650966	1.00[EUR][1000 genomes]
rs7652175	1.00[EUR][1000 genomes]
rs7652476	1.00[EUR][1000 genomes]
rs9681089	1.00[EUR][1000 genomes]
rs9682449	1.00[EUR][1000 genomes]
rs9682819	1.00[EUR][1000 genomes]
rs9815408	1.00[EUR][1000 genomes]
rs9833487	1.00[EUR][1000 genomes]
rs9846827	1.00[EUR][1000 genomes]
rs9869545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9877711	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1820544	chr3:53046712-53096394	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv822094	chr3:53059674-53096460	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv590347	chr3:53079048-53088815	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53080800-53084400	Weak transcription	HSMMtube	muscle
2	chr3:53081000-53085400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:53081200-53085200	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:53081200-53085200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:53081200-53085400	Weak transcription	Brain Anterior Caudate	brain
6	chr3:53081200-53085400	Weak transcription	Pancreas	Pancrea
7	chr3:53081800-53086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:53084000-53084400	Flanking Active TSS	HepG2	liver

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