Variant report

Variant	rs11970286
Chromosome Location	chr6:118680374-118680375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11153730	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11752626	1.00[CEU][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11758454	0.83[EUR][1000 genomes]
rs11965985	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11967375	1.00[CEU][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11967858	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12194555	0.95[MEX][hapmap]
rs12199463	0.85[MEX][hapmap]
rs12661338	1.00[CEU][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes]
rs12665409	0.90[ASN][1000 genomes]
rs1572226	0.84[MEX][hapmap]
rs17226667	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17227124	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17825393	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17825652	0.91[EUR][1000 genomes]
rs2077162	0.90[ASN][1000 genomes]
rs2078383	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28655926	0.90[ASN][1000 genomes]
rs35029749	0.80[AMR][1000 genomes]
rs3798420	0.94[MEX][hapmap]
rs4307206	1.00[CEU][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56403768	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57912492	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6569013	0.85[ASN][1000 genomes]
rs6569014	0.90[ASN][1000 genomes]
rs6569015	0.90[ASN][1000 genomes]
rs6920640	0.83[ASN][1000 genomes]
rs6925641	0.95[MEX][hapmap]
rs72952771	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72952795	0.80[AMR][1000 genomes]
rs72967533	0.84[EUR][1000 genomes]
rs7453914	0.81[ASN][1000 genomes]
rs763254	0.81[EUR][1000 genomes]
rs7764272	0.81[ASN][1000 genomes]
rs7764280	0.81[ASN][1000 genomes]
rs9320648	0.87[ASN][1000 genomes]
rs9320649	0.81[ASN][1000 genomes]
rs9489355	0.87[ASN][1000 genomes]
rs973944	0.94[MEX][hapmap]

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

Variant related diseases (count:2)

Disease	PMID	Source
QT interval	19305409	GWAS catalog
Electrocardiographic traits	20062063	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11970286	C6orf204	cis	cerebellum	SCAN
rs11970286	SLC35F1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118680200-118689400	Weak transcription	Psoas Muscle	Psoas

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