Variant report

Variant	rs12269427
Chromosome Location	chr10:53991209-53991210
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10128309	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508962	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508965	1.00[ASN][1000 genomes]
rs11001195	1.00[ASN][1000 genomes]
rs11001263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001416	0.81[EUR][1000 genomes]
rs11001445	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001452	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001453	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597314	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598203	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194502	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194515	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194516	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1201585	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12243664	0.81[EUR][1000 genomes]
rs12244698	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406473	0.85[EUR][1000 genomes]
rs1528880	0.81[EUR][1000 genomes]
rs16928983	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910542	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41281544	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7070276	1.00[ASN][1000 genomes]
rs7075923	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091481	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346996	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348710	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348739	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907343	1.00[ASN][1000 genomes]
rs7909343	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7912782	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2750961	chr10:53726294-54010594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv895399	chr10:53900872-54219820	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2621844	chr10:53982660-54033949	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv5974	chr10:53984049-54034016	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3377297	chr10:53984068-54034061	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3359737	chr10:53984078-54034047	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3361575	chr10:53984134-54034048	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3494769	chr10:53984145-54034011	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3494770	chr10:53984145-54034011	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3378490	chr10:53984169-54034027	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3376659	chr10:53984202-54033986	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3072	chr10:53984224-54034020	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv3371586	chr10:53984271-54033985	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv982876	chr10:53989312-53999791	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53977000-53992400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:53986600-53992400	Weak transcription	NHLF	lung
3	chr10:53989400-53992400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:53989400-53992400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:53989400-53992400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:53989600-53992200	Weak transcription	HUVEC	blood vessel
7	chr10:53989600-53992400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:53989600-53992400	Weak transcription	HMEC	breast
9	chr10:53989600-53992400	Weak transcription	NHEK	skin
10	chr10:53990600-53992400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:53990800-53991800	Enhancers	Stomach Mucosa	stomach
12	chr10:53990800-53993000	Enhancers	Primary B cells from peripheral blood	blood
13	chr10:53991200-53992400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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