Variant report

Variant	rs11942051
Chromosome Location	chr4:74515640-74515641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10019041	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10026404	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1247583	0.95[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap]
rs17805665	0.94[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1957659	0.94[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2010987	0.94[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2010989	0.94[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6446944	0.89[ASW][hapmap];0.81[JPT][hapmap]
rs6827519	0.94[ASW][hapmap];0.80[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11942051	CNOT6L	cis	parietal	SCAN
rs11942051	ANKRD17	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74514000-74519200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:74514200-74517000	Enhancers	Fetal Thymus	thymus
3	chr4:74514400-74515800	Weak transcription	Stomach Mucosa	stomach
4	chr4:74515000-74515800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:74515000-74515800	Enhancers	HMEC	breast
6	chr4:74515400-74516400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:74515400-74517400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:74515400-74519400	Enhancers	Thymus	Thymus
9	chr4:74515600-74516000	Enhancers	Placenta	Placenta
10	chr4:74515600-74516400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:74515600-74516400	Flanking Active TSS	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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