Variant report

Variant	rs11858998
Chromosome Location	chr16:79621023-79621024
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11863053	0.94[EUR][1000 genomes]
rs11865785	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17757878	0.91[EUR][1000 genomes]
rs7189642	0.82[EUR][1000 genomes]
rs73587060	0.86[AFR][1000 genomes]

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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv457554	chr16:79608408-79645989	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv573289	chr16:79608408-79645989	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv827768	chr16:79615278-79640094	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11858998	ZFP1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79606600-79623000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:79614600-79621400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr16:79614600-79622400	Weak transcription	Psoas Muscle	Psoas
4	chr16:79614600-79623000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:79614600-79623200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr16:79615400-79621400	Weak transcription	Fetal Lung	lung
7	chr16:79615400-79623200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:79615800-79627200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:79620200-79623800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:79620400-79623000	Weak transcription	Ovary	ovary
11	chr16:79620600-79621600	Weak transcription	Liver	Liver
12	chr16:79620600-79623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr16:79621000-79622000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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