Variant report

Variant	rs12199380
Chromosome Location	chr6:78111146-78111147
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10455107	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10943440	1.00[AFR][1000 genomes]
rs10943442	1.00[AFR][1000 genomes]
rs10943444	1.00[AFR][1000 genomes]
rs10943448	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10943450	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10943453	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10943455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10943458	1.00[AFR][1000 genomes]
rs11509441	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11963068	1.00[AFR][1000 genomes]
rs11963096	1.00[AFR][1000 genomes]
rs12191358	1.00[AFR][1000 genomes]
rs12193279	1.00[AFR][1000 genomes]
rs12193587	1.00[AFR][1000 genomes]
rs12194566	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12195192	1.00[AFR][1000 genomes]
rs12196920	1.00[AFR][1000 genomes]
rs12202106	1.00[AFR][1000 genomes]
rs12203487	1.00[AFR][1000 genomes]
rs12205293	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12206101	1.00[AFR][1000 genomes]
rs12207134	0.81[AMR][1000 genomes]
rs12207458	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12211642	1.00[AFR][1000 genomes]
rs12214471	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12214530	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12214837	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12215818	1.00[AFR][1000 genomes]
rs1342630	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16888733	1.00[AFR][1000 genomes]
rs2798524	0.86[EUR][1000 genomes]
rs4142467	1.00[AFR][1000 genomes]
rs57497739	1.00[AFR][1000 genomes]
rs60223508	1.00[AFR][1000 genomes]
rs62416424	1.00[AFR][1000 genomes]
rs6899577	1.00[AFR][1000 genomes]
rs6910682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892779	1.00[AFR][1000 genomes]
rs72894652	1.00[AFR][1000 genomes]
rs72894702	1.00[AFR][1000 genomes]
rs72896610	1.00[AFR][1000 genomes]
rs72896611	1.00[AFR][1000 genomes]
rs72896613	1.00[AFR][1000 genomes]
rs72896661	1.00[AFR][1000 genomes]
rs72896663	1.00[AFR][1000 genomes]
rs72898730	1.00[AFR][1000 genomes]
rs72898733	1.00[AFR][1000 genomes]
rs72898736	1.00[AFR][1000 genomes]
rs72898752	1.00[AFR][1000 genomes]
rs72898768	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72898774	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72898792	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72900711	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72900748	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017082	chr6:77585310-78258237	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv534282	chr6:77764575-78351994	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034979	chr6:77781244-78426249	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538324	chr6:77781244-78426249	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1015307	chr6:77902559-78352291	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1028259	chr6:78059491-78709871	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv538325	chr6:78059491-78709871	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv463166	chr6:78083971-78127374	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	nsv603809	chr6:78083971-78127374	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv2758062	chr6:78100020-78283042	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv2759445	chr6:78100020-78283042	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr6:78109400-78113000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:78111000-78111200	Enhancers	Placenta Amnion	Placenta Amnion

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