Variant report

Variant	rs10880718
Chromosome Location	chr12:45362806-45362807
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10880730	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11182810	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182811	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1118481	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1224436	0.90[EUR][1000 genomes]
rs1495033	0.89[ASN][1000 genomes]
rs1495034	0.85[EUR][1000 genomes]
rs1495035	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1495036	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1495042	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1857924	0.91[EUR][1000 genomes]
rs1857925	0.91[EUR][1000 genomes]
rs1857926	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2408140	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2544102	0.83[EUR][1000 genomes]
rs2643140	0.83[EUR][1000 genomes]
rs2731040	0.82[EUR][1000 genomes]
rs2731053	0.83[EUR][1000 genomes]
rs2731054	0.83[EUR][1000 genomes]
rs4285943	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4561266	0.85[EUR][1000 genomes]
rs7963606	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7964973	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899049	chr12:45299202-45376053	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899050	chr12:45299202-45400614	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899051	chr12:45307633-45376053	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv527565	chr12:45319767-45365812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3407092	chr12:45342734-45368068	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1045857	chr12:45351172-45468784	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv541485	chr12:45351172-45468784	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv469365	chr12:45353367-45388817	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv558751	chr12:45353367-45388817	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv469366	chr12:45357804-45386398	Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv558752	chr12:45357804-45386398	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10880718	RP11-478B9.2	cis	Skin Sun Exposed Lower leg	GTEx
rs10880718	DBX2	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45361800-45364200	Enhancers	Dnd41	blood
2	chr12:45362000-45363200	Enhancers	Primary hematopoietic stem cells	blood
3	chr12:45362000-45364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:45362000-45364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:45362200-45364000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:45362400-45363200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:45362400-45363400	Enhancers	Primary T cells from cord blood	blood
8	chr12:45362800-45363200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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