Variant report

Variant	rs11686286
Chromosome Location	chr2:231447352-231447353
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	FOXM1	chr2:231447041-231448305	GM12878	blood:	n/a	n/a
2	MTA3	chr2:231447140-231448977	GM12878	blood:	n/a	n/a
3	PML	chr2:231447286-231449090	GM12878	blood:	n/a	chr2:231448813-231448821
4	BCLAF1	chr2:231447303-231448937	GM12878	blood:	n/a	chr2:231448477-231448486 chr2:231447804-231447813 chr2:231448763-231448772
5	POLR2A	chr2:231447291-231449074	GM12878	blood:	n/a	n/a
6	RCOR1	chr2:231447120-231447949	GM12878	blood:	n/a	n/a
7	NFIC	chr2:231447287-231449123	GM12878	blood:	n/a	n/a
8	CEBPB	chr2:231447055-231448245	GM12878	blood:	n/a	n/a
9	MTA3	chr2:231447047-231449191	GM12878	blood:	n/a	n/a
10	RELA	chr2:231447109-231448742	GM18505	blood:	n/a	n/a
11	RCOR1	chr2:231447289-231447874	IMR90	lung:	n/a	n/a
12	FOXM1	chr2:231447235-231448993	GM12878	blood:	n/a	chr2:231448425-231448433
13	NFIC	chr2:231447350-231448782	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000235419	TF binding region
RNU6-451P	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11674767	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11676418	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11681649	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11682332	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11682484	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11687550	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11689413	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11691070	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11692958	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11694266	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11694317	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12612121	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12617821	0.83[AFR][1000 genomes]
rs2241534	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2241536	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2241537	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56199999	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56289241	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6748830	0.84[ASN][1000 genomes]
rs73992446	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73992447	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875953	chr2:231415189-231457819	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875955	chr2:231440555-231500805	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv961010	chr2:231446732-231451285	Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231443400-231451000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:231443400-231453800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:231443400-231454400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:231443400-231454600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:231443800-231447600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:231444000-231447400	Weak transcription	Primary B cells from cord blood	blood
7	chr2:231444000-231447600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:231446800-231449000	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:231447200-231448200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:231447200-231448600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:231447200-231449000	Flanking Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links