Variant report

Variant	rs3901470
Chromosome Location	chr12:60704761-60704762
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10877412	0.84[EUR][1000 genomes]
rs10877413	0.86[EUR][1000 genomes]
rs10877414	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11173351	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11173359	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11173361	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11173367	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11173386	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11173389	0.86[EUR][1000 genomes]
rs11173391	0.86[EUR][1000 genomes]
rs11173392	0.86[EUR][1000 genomes]
rs11173393	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11173395	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11173396	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173397	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11173398	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11173405	0.88[EUR][1000 genomes]
rs11173407	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11173414	0.80[EUR][1000 genomes]
rs11173416	0.85[EUR][1000 genomes]
rs1125188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11536139	0.80[EUR][1000 genomes]
rs11561446	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11561447	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11836206	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12226976	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12228227	0.82[EUR][1000 genomes]
rs12228823	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12230599	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12231371	0.80[EUR][1000 genomes]
rs12231943	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12580142	0.80[EUR][1000 genomes]
rs12580151	0.80[EUR][1000 genomes]
rs1319775	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1394328	0.80[EUR][1000 genomes]
rs1394330	0.80[EUR][1000 genomes]
rs1504442	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1504443	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1504460	0.80[EUR][1000 genomes]
rs1532810	0.80[EUR][1000 genomes]
rs1532811	0.80[EUR][1000 genomes]
rs1604867	0.80[EUR][1000 genomes]
rs1604868	0.80[EUR][1000 genomes]
rs1604869	0.80[EUR][1000 genomes]
rs17602381	0.80[ASN][1000 genomes]
rs17606011	0.80[EUR][1000 genomes]
rs17606158	0.85[EUR][1000 genomes]
rs17606266	0.80[EUR][1000 genomes]
rs17606458	0.82[EUR][1000 genomes]
rs17669416	0.80[EUR][1000 genomes]
rs1875860	0.85[EUR][1000 genomes]
rs1995515	0.84[EUR][1000 genomes]
rs2102258	0.86[EUR][1000 genomes]
rs2202365	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2221407	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2363600	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3920119	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4143650	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4265627	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4417318	0.87[ASN][1000 genomes]
rs4583008	0.85[EUR][1000 genomes]
rs4638340	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4758744	0.81[AMR][1000 genomes]
rs4758745	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4758859	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4758863	0.80[EUR][1000 genomes]
rs55661627	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55810124	0.81[EUR][1000 genomes]
rs56088032	0.83[EUR][1000 genomes]
rs56240683	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60691341	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60798845	0.80[EUR][1000 genomes]
rs61487567	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61923074	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61923092	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61923093	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61923121	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61923124	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61923127	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61923129	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61923130	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61923132	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61923155	0.84[EUR][1000 genomes]
rs61923156	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61923157	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61925560	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581305	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6581310	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7131926	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7134267	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7136835	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7136994	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7138626	0.83[EUR][1000 genomes]
rs7295183	0.85[EUR][1000 genomes]
rs7305978	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7306226	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307028	0.81[EUR][1000 genomes]
rs7952971	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7953857	0.84[EUR][1000 genomes]
rs7957100	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7957295	0.82[EUR][1000 genomes]
rs7960292	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7960303	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7960487	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7961791	0.85[EUR][1000 genomes]
rs7961816	0.84[EUR][1000 genomes]
rs7971161	0.85[EUR][1000 genomes]
rs7972668	0.80[EUR][1000 genomes]
rs7973156	0.84[EUR][1000 genomes]
rs7973882	0.80[AMR][1000 genomes]
rs7975549	0.80[EUR][1000 genomes]
rs905722	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924835	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924836	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs959645	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9634280	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9634281	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9668893	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1047466	chr12:60702221-61521156	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60701200-60705000	Enhancers	HMEC	breast
2	chr12:60701200-60706200	Enhancers	NHEK	skin
3	chr12:60701600-60706200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:60701800-60706400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:60704000-60704800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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