Variant report

Variant	rs12198458
Chromosome Location	chr6:118687262-118687263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10080340	0.85[EUR][1000 genomes]
rs10214801	0.85[EUR][1000 genomes]
rs11153727	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11153749	0.85[EUR][1000 genomes]
rs11153751	0.85[EUR][1000 genomes]
rs12191962	0.85[EUR][1000 genomes]
rs12199189	0.85[EUR][1000 genomes]
rs12199190	0.85[EUR][1000 genomes]
rs12199786	0.85[EUR][1000 genomes]
rs12202670	0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12202832	0.85[EUR][1000 genomes]
rs12202932	0.85[EUR][1000 genomes]
rs12203556	0.85[EUR][1000 genomes]
rs12207121	0.85[EUR][1000 genomes]
rs12212089	0.85[EUR][1000 genomes]
rs12215706	0.85[EUR][1000 genomes]
rs6900071	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6903632	0.85[EUR][1000 genomes]
rs6904070	0.85[EUR][1000 genomes]
rs6934770	0.85[EUR][1000 genomes]
rs6939873	0.85[EUR][1000 genomes]
rs7743702	0.85[EUR][1000 genomes]
rs7755203	0.85[EUR][1000 genomes]
rs7759420	0.85[EUR][1000 genomes]
rs7774843	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9387570	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9387571	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9387573	0.85[EUR][1000 genomes]
rs9387582	0.85[EUR][1000 genomes]
rs9398488	0.85[EUR][1000 genomes]
rs9401069	0.85[EUR][1000 genomes]
rs9481773	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9481779	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9481780	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9481781	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9481782	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9481788	0.85[EUR][1000 genomes]
rs9481793	0.85[EUR][1000 genomes]
rs9481796	0.85[EUR][1000 genomes]
rs9481812	0.85[EUR][1000 genomes]
rs9481818	0.85[EUR][1000 genomes]
rs9489330	0.81[AMR][1000 genomes]
rs9489332	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9489339	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9489340	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9489341	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9489343	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9489345	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9489347	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9489350	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9489363	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9489370	0.85[EUR][1000 genomes]
rs9489374	0.85[EUR][1000 genomes]
rs9489375	0.85[EUR][1000 genomes]
rs9489379	0.85[EUR][1000 genomes]
rs9489380	0.85[EUR][1000 genomes]
rs9489382	0.85[EUR][1000 genomes]
rs9489402	0.85[EUR][1000 genomes]
rs9489408	0.85[EUR][1000 genomes]
rs9489410	0.85[EUR][1000 genomes]
rs9489415	0.85[EUR][1000 genomes]
rs9489422	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv604554	chr6:118631282-118716318	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv830787	chr6:118631902-118805106	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr6:118680200-118689400	Weak transcription	Psoas Muscle	Psoas
2	chr6:118686000-118694400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:118687200-118687400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr6:118687200-118687600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:118687200-118687800	Enhancers	Skeletal Muscle Male	skeletal muscle

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