Variant report

Variant	rs12314242
Chromosome Location	chr12:41806769-41806770
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	POLR2A	chr12:41806585-41806808	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000257228	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10161143	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11180971	0.84[AMR][1000 genomes]
rs12298553	0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12299762	0.97[ASN][1000 genomes]
rs12300549	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12305318	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12305552	0.91[ASN][1000 genomes]
rs12307517	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12314805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1350433	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1458155	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17129351	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17129364	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17129405	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17129413	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1817270	0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2405924	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2897270	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35577124	0.84[AMR][1000 genomes]
rs3761676	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4635145	0.84[AMR][1000 genomes]
rs56394503	0.86[ASN][1000 genomes]
rs58573939	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59662716	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60903037	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6582337	0.84[AMR][1000 genomes]
rs7133340	0.97[ASN][1000 genomes]
rs7297699	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7307387	0.84[AMR][1000 genomes]
rs731979	0.84[AMR][1000 genomes]
rs73274484	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73278055	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs74077585	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs74077591	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7960293	0.84[AMR][1000 genomes]
rs7966351	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv899036	chr12:41777144-41807859	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv899037	chr12:41777144-41819215	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1044910	chr12:41778831-41813198	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
6	esv2761735	chr12:41780758-41811938	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
7	esv2757501	chr12:41780758-41816002	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
8	esv2759896	chr12:41780758-41816002	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv2755020	chr12:41780758-41820936	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv899038	chr12:41784137-41819215	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv818915	chr12:41784997-41811063	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
12	nsv899039	chr12:41784997-41813207	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
13	nsv1050627	chr12:41789891-41809009	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41802800-41808600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:41804800-41808400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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