Variant report

Variant	rs12230599
Chromosome Location	chr12:60678052-60678053
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1021887	0.85[EUR][1000 genomes]
rs10506408	0.81[ASN][1000 genomes]
rs10747870	0.85[EUR][1000 genomes]
rs10784046	0.85[EUR][1000 genomes]
rs10877406	0.81[EUR][1000 genomes]
rs10877412	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10877413	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10877414	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10877422	0.81[EUR][1000 genomes]
rs11173329	0.82[ASN][1000 genomes]
rs11173343	0.81[ASN][1000 genomes]
rs11173345	0.81[ASN][1000 genomes]
rs11173346	0.81[ASN][1000 genomes]
rs11173351	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11173359	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11173361	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11173367	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11173386	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11173387	0.84[EUR][1000 genomes]
rs11173389	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11173391	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11173392	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11173393	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11173395	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11173396	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11173397	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11173398	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11173405	0.83[EUR][1000 genomes]
rs11173407	0.80[EUR][1000 genomes]
rs11173418	0.81[EUR][1000 genomes]
rs1125188	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11561446	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11561447	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11836206	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12226976	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12227514	0.81[ASN][1000 genomes]
rs12228823	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12231312	0.81[ASN][1000 genomes]
rs12231943	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12817959	0.81[EUR][1000 genomes]
rs1304313	0.85[EUR][1000 genomes]
rs1319633	0.81[EUR][1000 genomes]
rs1319775	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1354469	0.86[EUR][1000 genomes]
rs1504442	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1504443	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1504444	0.82[EUR][1000 genomes]
rs1504459	0.81[EUR][1000 genomes]
rs1504462	0.81[EUR][1000 genomes]
rs1504463	0.81[EUR][1000 genomes]
rs1504464	0.81[EUR][1000 genomes]
rs1587821	0.85[EUR][1000 genomes]
rs1604866	0.85[EUR][1000 genomes]
rs17595325	0.81[ASN][1000 genomes]
rs17595367	0.81[ASN][1000 genomes]
rs17602381	0.83[ASN][1000 genomes]
rs17665306	0.81[ASN][1000 genomes]
rs1910674	0.84[EUR][1000 genomes]
rs1995515	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2134882	0.86[EUR][1000 genomes]
rs2202365	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2221407	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2363600	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35713358	0.84[EUR][1000 genomes]
rs3901470	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3920119	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4143650	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4254103	0.81[EUR][1000 genomes]
rs4265627	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4347425	0.80[EUR][1000 genomes]
rs4366523	0.81[EUR][1000 genomes]
rs4417318	0.90[ASN][1000 genomes]
rs4454757	0.81[ASN][1000 genomes]
rs4491264	0.81[ASN][1000 genomes]
rs4567505	0.81[ASN][1000 genomes]
rs4638340	0.80[EUR][1000 genomes]
rs4758744	0.81[ASN][1000 genomes]
rs4758745	0.83[ASN][1000 genomes]
rs4758859	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs55661627	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56240683	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60691341	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61487567	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923065	0.81[ASN][1000 genomes]
rs61923066	0.81[ASN][1000 genomes]
rs61923067	0.81[ASN][1000 genomes]
rs61923074	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61923092	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61923093	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61923121	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61923124	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61923127	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61923129	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61923130	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923132	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923155	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61923156	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61923157	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61925560	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6581305	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6581310	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7131926	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7134267	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7136435	0.81[EUR][1000 genomes]
rs7136835	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7136994	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7138626	0.81[ASN][1000 genomes]
rs7295183	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7297548	0.87[EUR][1000 genomes]
rs7305978	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7306226	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7313364	0.87[EUR][1000 genomes]
rs7952971	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7953857	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7957100	0.98[ASN][1000 genomes]
rs7957295	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7960292	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7960303	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7960487	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7961221	0.81[EUR][1000 genomes]
rs7961816	0.94[EUR][1000 genomes]
rs7973156	0.94[EUR][1000 genomes]
rs7973882	0.81[ASN][1000 genomes]
rs7975549	0.86[EUR][1000 genomes]
rs905722	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs924835	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs924836	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs958543	0.84[EUR][1000 genomes]
rs959645	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9634280	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9634281	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9668893	0.83[ASN][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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60676800-60679600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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