Variant report

Variant	rs12546169
Chromosome Location	chr8:110228668-110228669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 229 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:223)

rs_ID	r²[population]
rs10081564	0.87[ASN][1000 genomes]
rs10088496	0.90[ASN][1000 genomes]
rs10089544	0.90[ASN][1000 genomes]
rs10091155	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10100690	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10101048	0.90[ASN][1000 genomes]
rs10101050	0.90[ASN][1000 genomes]
rs10101189	0.90[ASN][1000 genomes]
rs10101520	0.90[ASN][1000 genomes]
rs10464819	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10464848	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10464849	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955508	0.90[ASN][1000 genomes]
rs10955510	0.90[ASN][1000 genomes]
rs10955511	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10955512	0.90[ASN][1000 genomes]
rs10955513	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955514	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11775991	0.90[ASN][1000 genomes]
rs11785243	0.90[ASN][1000 genomes]
rs11985765	0.88[ASN][1000 genomes]
rs11986161	0.90[ASN][1000 genomes]
rs11992816	0.88[ASN][1000 genomes]
rs11994164	0.90[ASN][1000 genomes]
rs11994227	0.90[ASN][1000 genomes]
rs11995419	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11997974	0.90[ASN][1000 genomes]
rs12542811	0.90[ASN][1000 genomes]
rs12542959	0.90[ASN][1000 genomes]
rs12544150	0.90[ASN][1000 genomes]
rs12544503	0.90[ASN][1000 genomes]
rs12546985	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549347	0.90[ASN][1000 genomes]
rs12549397	0.90[ASN][1000 genomes]
rs12550383	0.90[ASN][1000 genomes]
rs12674513	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12674533	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12675753	0.90[ASN][1000 genomes]
rs12679958	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12680451	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12680886	0.88[ASN][1000 genomes]
rs12682610	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13251321	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13251597	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13265151	0.90[ASN][1000 genomes]
rs13269698	0.81[ASN][1000 genomes]
rs13282488	0.90[ASN][1000 genomes]
rs1380096	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1380097	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1380098	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1380099	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1458915	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1458916	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1458917	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1458921	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1458922	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1458924	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1458925	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1458926	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1458927	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1548082	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1548083	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1585295	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1585296	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1585297	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17364037	0.94[ASN][1000 genomes]
rs1947630	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1947631	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007179	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2054255	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2067780	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2085627	0.81[ASN][1000 genomes]
rs2085628	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2085629	0.81[EUR][1000 genomes]
rs2125512	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2168965	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2199122	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28407429	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28413119	0.90[ASN][1000 genomes]
rs28437828	0.90[ASN][1000 genomes]
rs2882176	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28870477	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926191	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2926192	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2926198	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926199	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926202	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926203	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926204	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926207	0.81[ASN][1000 genomes]
rs2926209	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926213	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926216	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926217	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926218	0.93[ASN][1000 genomes]
rs2926220	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926222	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2926223	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926245	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926246	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926247	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926249	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926250	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2926251	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2926254	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2926255	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2926256	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2926257	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2926258	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2926260	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926261	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2926264	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2926268	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926270	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926271	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926273	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926275	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926276	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926283	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2980565	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2980587	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980588	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980590	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980592	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980595	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980596	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980597	0.81[ASN][1000 genomes]
rs2980598	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980599	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980601	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980603	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980604	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980605	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2980608	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2980609	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980610	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2980612	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980613	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980615	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980616	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980617	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980618	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980622	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980624	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980629	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980631	0.81[EUR][1000 genomes]
rs2980633	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980634	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2980635	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980638	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134471	0.81[ASN][1000 genomes]
rs34049275	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34979579	0.86[ASN][1000 genomes]
rs35850605	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35978837	0.90[ASN][1000 genomes]
rs3890699	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4034230	0.81[EUR][1000 genomes]
rs4130640	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4236803	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4236804	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4257986	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4265160	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4273834	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4288351	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4291240	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4311632	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4332104	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4339614	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4358779	0.90[ASN][1000 genomes]
rs4389899	0.90[ASN][1000 genomes]
rs4389900	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4428648	0.90[ASN][1000 genomes]
rs4439099	0.90[ASN][1000 genomes]
rs4442117	0.90[ASN][1000 genomes]
rs4443632	0.90[ASN][1000 genomes]
rs4454252	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4529440	0.90[ASN][1000 genomes]
rs4570131	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4604407	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4645539	0.90[ASN][1000 genomes]
rs4734196	0.90[ASN][1000 genomes]
rs4734197	0.90[ASN][1000 genomes]
rs4734198	0.90[ASN][1000 genomes]
rs4734203	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734204	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734205	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4734209	0.87[ASN][1000 genomes]
rs4734210	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735097	0.83[ASN][1000 genomes]
rs4735098	0.83[ASN][1000 genomes]
rs4735108	0.90[ASN][1000 genomes]
rs4735109	0.90[ASN][1000 genomes]
rs4735110	0.90[ASN][1000 genomes]
rs4735114	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4735116	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735118	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4735121	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735122	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55765942	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56896876	0.90[ASN][1000 genomes]
rs62511091	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469245	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6983369	0.83[ASN][1000 genomes]
rs6983376	0.90[ASN][1000 genomes]
rs6985869	0.88[ASN][1000 genomes]
rs6986127	0.88[ASN][1000 genomes]
rs6988041	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6990140	0.90[ASN][1000 genomes]
rs6994788	0.87[ASN][1000 genomes]
rs6998731	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6998883	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7004206	0.81[ASN][1000 genomes]
rs7008174	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7010380	0.90[ASN][1000 genomes]
rs71526729	0.81[ASN][1000 genomes]
rs720574	0.88[ASN][1000 genomes]
rs7817746	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7817909	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7825689	0.90[ASN][1000 genomes]
rs7829544	0.83[ASN][1000 genomes]
rs7845815	0.90[ASN][1000 genomes]
rs922044	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297421	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023204	chr8:110169573-110303085	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1031663	chr8:110177432-110303085	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891272	chr8:110217266-110268104	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv891274	chr8:110224047-110308776	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891275	chr8:110224047-110319234	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110191400-110237400	Weak transcription	Left Ventricle	heart
2	chr8:110204800-110230600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:110211200-110311600	Weak transcription	Right Ventricle	heart
4	chr8:110225600-110231000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:110225800-110241800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:110226000-110230600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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