Variant report

Variant	rs11173393
Chromosome Location	chr12:60692768-60692769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60644951..60647277-chr12:60691077..60693506,2	MCF-7	breast:
2	chr12:60657376..60660330-chr12:60692662..60694412,2	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1021887	0.90[EUR][1000 genomes]
rs10747870	0.87[EUR][1000 genomes]
rs10784033	0.80[EUR][1000 genomes]
rs10784046	0.90[EUR][1000 genomes]
rs10877398	0.80[EUR][1000 genomes]
rs10877399	0.80[EUR][1000 genomes]
rs10877401	0.82[EUR][1000 genomes]
rs10877402	0.83[EUR][1000 genomes]
rs10877403	0.81[EUR][1000 genomes]
rs10877406	0.85[EUR][1000 genomes]
rs10877412	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877414	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877422	0.85[EUR][1000 genomes]
rs11173357	0.82[EUR][1000 genomes]
rs11173365	0.82[EUR][1000 genomes]
rs11173371	0.83[EUR][1000 genomes]
rs11173387	0.88[EUR][1000 genomes]
rs11173389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173392	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173395	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173396	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11173397	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173398	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173405	0.83[EUR][1000 genomes]
rs11173418	0.85[EUR][1000 genomes]
rs1125188	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11561446	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11561447	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836206	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230599	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12231943	0.86[EUR][1000 genomes]
rs12817959	0.83[EUR][1000 genomes]
rs12830074	0.83[EUR][1000 genomes]
rs1304313	0.88[EUR][1000 genomes]
rs1319633	0.85[EUR][1000 genomes]
rs1354469	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1493311	0.82[EUR][1000 genomes]
rs1504444	0.86[EUR][1000 genomes]
rs1504459	0.85[EUR][1000 genomes]
rs1504462	0.85[EUR][1000 genomes]
rs1504463	0.85[EUR][1000 genomes]
rs1504464	0.85[EUR][1000 genomes]
rs1566847	0.84[EUR][1000 genomes]
rs1587821	0.88[EUR][1000 genomes]
rs1604866	0.90[EUR][1000 genomes]
rs1875860	0.84[EUR][1000 genomes]
rs1910674	0.86[EUR][1000 genomes]
rs1995515	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2102257	0.80[EUR][1000 genomes]
rs2102258	0.85[EUR][1000 genomes]
rs2134882	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2202365	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2221407	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2363600	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655842	0.80[EUR][1000 genomes]
rs2655843	0.80[EUR][1000 genomes]
rs2655848	0.80[EUR][1000 genomes]
rs2655893	0.80[EUR][1000 genomes]
rs2731487	0.80[EUR][1000 genomes]
rs2731488	0.80[EUR][1000 genomes]
rs2731491	0.80[EUR][1000 genomes]
rs2731492	0.80[EUR][1000 genomes]
rs35713358	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3901470	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3920119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4254103	0.85[EUR][1000 genomes]
rs4347425	0.82[EUR][1000 genomes]
rs4366523	0.85[EUR][1000 genomes]
rs4406858	0.83[EUR][1000 genomes]
rs4583008	0.84[EUR][1000 genomes]
rs56240683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691341	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61923155	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923156	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61923157	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61925560	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6581310	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136435	0.84[EUR][1000 genomes]
rs7136835	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7136994	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7295183	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7297548	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7305978	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7306226	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7312225	0.82[EUR][1000 genomes]
rs7313364	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7952971	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7953857	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7957295	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7960292	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7960303	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7960487	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7961221	0.84[EUR][1000 genomes]
rs7961791	0.84[EUR][1000 genomes]
rs7961816	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7971161	0.84[EUR][1000 genomes]
rs7973156	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7975549	0.91[EUR][1000 genomes]
rs905722	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs924835	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs924836	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs958543	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832431	chr12:60626292-60809233	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60691000-60694200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60691600-60693200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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