Variant report

Variant	rs12292886
Chromosome Location	chr11:71135241-71135242
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	MYC	chr11:71135171-71135246	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:71135115-71135425	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71124009..71126373-chr11:71135133..71137138,2	K562	blood:
2	chr11:71122603..71125509-chr11:71135103..71137138,2	K562	blood:
3	chr11:71130483..71134539-chr11:71135016..71139274,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172900	TF binding region
ENSG00000172900	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10160376	1.00[EUR][1000 genomes]
rs10160536	1.00[EUR][1000 genomes]
rs10450661	1.00[EUR][1000 genomes]
rs10466698	1.00[EUR][1000 genomes]
rs10466717	1.00[EUR][1000 genomes]
rs11233662	1.00[EUR][1000 genomes]
rs11233679	1.00[EUR][1000 genomes]
rs11233754	1.00[EUR][1000 genomes]
rs11233871	1.00[EUR][1000 genomes]
rs11233901	1.00[EUR][1000 genomes]
rs11233950	1.00[EUR][1000 genomes]
rs11234008	1.00[EUR][1000 genomes]
rs11234009	1.00[EUR][1000 genomes]
rs12270619	1.00[EUR][1000 genomes]
rs12271661	1.00[EUR][1000 genomes]
rs12271811	1.00[EUR][1000 genomes]
rs12271894	1.00[EUR][1000 genomes]
rs12271996	1.00[EUR][1000 genomes]
rs12272475	1.00[EUR][1000 genomes]
rs12272819	1.00[EUR][1000 genomes]
rs12274022	1.00[EUR][1000 genomes]
rs12274073	1.00[EUR][1000 genomes]
rs12274363	1.00[EUR][1000 genomes]
rs12275637	1.00[EUR][1000 genomes]
rs12277617	1.00[EUR][1000 genomes]
rs12277693	1.00[EUR][1000 genomes]
rs12278475	1.00[EUR][1000 genomes]
rs12280295	1.00[EUR][1000 genomes]
rs12281892	1.00[EUR][1000 genomes]
rs12282060	1.00[EUR][1000 genomes]
rs12283407	1.00[EUR][1000 genomes]
rs12283656	1.00[EUR][1000 genomes]
rs12285168	1.00[EUR][1000 genomes]
rs12285189	1.00[EUR][1000 genomes]
rs12285333	1.00[EUR][1000 genomes]
rs12285566	1.00[EUR][1000 genomes]
rs12286197	1.00[EUR][1000 genomes]
rs12286997	1.00[EUR][1000 genomes]
rs12289365	1.00[EUR][1000 genomes]
rs12289373	1.00[EUR][1000 genomes]
rs12291219	1.00[EUR][1000 genomes]
rs12293132	1.00[EUR][1000 genomes]
rs12294879	1.00[EUR][1000 genomes]
rs12295554	1.00[EUR][1000 genomes]
rs17161531	1.00[EUR][1000 genomes]
rs2298775	1.00[EUR][1000 genomes]
rs28468070	1.00[EUR][1000 genomes]
rs28481909	1.00[EUR][1000 genomes]
rs28655145	1.00[EUR][1000 genomes]
rs3794059	1.00[EUR][1000 genomes]
rs3794061	1.00[EUR][1000 genomes]
rs3814732	1.00[EUR][1000 genomes]
rs56012338	1.00[EUR][1000 genomes]
rs56120850	1.00[EUR][1000 genomes]
rs57853623	1.00[EUR][1000 genomes]
rs58884740	1.00[EUR][1000 genomes]
rs59553442	1.00[EUR][1000 genomes]
rs59601821	1.00[EUR][1000 genomes]
rs61440863	1.00[EUR][1000 genomes]
rs61663342	1.00[EUR][1000 genomes]
rs6592104	1.00[EUR][1000 genomes]
rs73530502	1.00[EUR][1000 genomes]
rs7950991	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71123600-71139600	Weak transcription	Right Atrium	heart
2	chr11:71132600-71144000	Weak transcription	Spleen	Spleen
3	chr11:71133800-71135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:71133800-71135400	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:71134000-71135400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr11:71134000-71135400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr11:71134000-71135400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:71134000-71135400	Enhancers	HMEC	breast
9	chr11:71134600-71135400	Enhancers	Brain Substantia Nigra	brain
10	chr11:71134600-71135600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:71134800-71135400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:71135000-71135400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:71135000-71135400	Enhancers	GM12878-XiMat	blood
14	chr11:71135000-71136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:71135000-71150600	Weak transcription	NH-A	brain

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