Variant report

Variant	rs1320348
Chromosome Location	chr12:103809935-103809936
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10161218	0.85[EUR][1000 genomes]
rs10466955	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10467023	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10745966	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10745969	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10778245	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10860995	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10861006	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861012	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861023	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10861024	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861027	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11111565	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1112754	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11611918	0.80[AFR][1000 genomes]
rs1316751	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1319091	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2374063	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2374067	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2374075	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2374076	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2374077	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2888730	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2888731	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3953541	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4015523	0.95[EUR][1000 genomes]
rs4015525	0.86[EUR][1000 genomes]
rs4015527	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4015536	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4433658	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4488299	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4506750	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4764960	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6539076	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7295666	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7295986	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7296215	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7299547	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7301105	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7302598	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7307779	0.85[EUR][1000 genomes]
rs7308343	0.95[EUR][1000 genomes]
rs7312427	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7316757	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7958520	0.92[EUR][1000 genomes]
rs7959115	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7960043	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7964462	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7965797	0.85[EUR][1000 genomes]
rs7969700	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7977907	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[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	nsv455703	chr12:103692799-103818049	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv560037	chr12:103692799-103818049	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899477	chr12:103747515-103817326	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv899478	chr12:103747515-103834275	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103795200-103814000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:103809000-103810000	Enhancers	Fetal Brain Male	brain
3	chr12:103809600-103815800	Weak transcription	Brain Germinal Matrix	brain

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