Variant report

Variant	rs34020242
Chromosome Location	chr7:112049704-112049705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11761827	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12216563	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13223482	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35734252	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730544	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58295122	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62474016	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6944057	0.81[EUR][1000 genomes]
rs6969907	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6976652	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720639	0.82[EUR][1000 genomes]
rs7780160	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7798715	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7810707	0.81[EUR][1000 genomes]
rs9649350	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112046000-112050600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:112046000-112050800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:112046000-112051000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:112046000-112060400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:112048400-112050600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:112048800-112050200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:112049600-112049800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:112049600-112051200	Enhancers	Fetal Lung	lung

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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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