Variant report

Variant	rs12731288
Chromosome Location	chr1:186506882-186506883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186501486..186504451-chr1:186506329..186509291,2	K562	blood:
2	chr1:186344658..186346802-chr1:186505094..186507834,3	K562	blood:
3	chr1:186344658..186346288-chr1:186505094..186507834,2	K562	blood:

Variant related genes	Relation type
ENSG00000047410	Chromatin interaction
ENSG00000157181	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10489396	0.84[EUR][1000 genomes]
rs10489397	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10911877	0.81[ASN][1000 genomes]
rs10911878	0.81[ASN][1000 genomes]
rs1108635	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799322	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11800288	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11800338	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11800651	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11801527	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11801617	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11802705	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11803944	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11803969	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11804161	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11804785	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11805597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11806017	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11806329	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11806663	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11806701	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11807318	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11807443	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11807927	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11808165	0.84[EUR][1000 genomes]
rs11808643	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808900	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11809088	0.84[EUR][1000 genomes]
rs11810534	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11811259	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11811260	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11811335	0.84[EUR][1000 genomes]
rs11812050	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12723621	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12726528	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12726764	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12731687	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12739006	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12739643	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12747113	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12747991	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12750686	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12752376	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12753223	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12754662	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16825361	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16825403	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16825434	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16825473	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16825519	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16825600	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1883650	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2008704	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2206974	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2223783	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2223784	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2383509	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2383512	0.82[EUR][1000 genomes]
rs2383513	0.84[EUR][1000 genomes]
rs2383514	0.84[EUR][1000 genomes]
rs2891249	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs33963275	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs33996079	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34200789	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34228564	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34249733	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34272627	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34310508	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34459464	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34513409	0.90[EUR][1000 genomes]
rs34578387	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34778311	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34781399	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34783173	0.83[EUR][1000 genomes]
rs34858233	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35205448	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35206897	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35240980	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35326401	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35461575	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35481005	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35636342	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35868587	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35945739	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36016361	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36030781	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36053737	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3901243	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3933210	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4140432	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4140434	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58626385	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6674145	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6678198	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6680055	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6682896	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6683271	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6694957	0.81[ASN][1000 genomes]
rs71634161	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71634164	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71634167	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71634173	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71634175	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71634176	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186503600-186507600	Enhancers	NHDF-Ad	bronchial
2	chr1:186503800-186508000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:186504000-186507200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:186504000-186507400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:186504600-186507400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:186504800-186510200	Weak transcription	Right Atrium	heart
7	chr1:186506000-186507000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:186506000-186507600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:186506400-186509600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:186506400-186512200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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