Variant report

Variant	rs2060612
Chromosome Location	chr12:39497697-39497698
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 1 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832374	chr12:39468434-39630369	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2060612	CPNE8	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39495600-39497800	Enhancers	Hela-S3	cervix
2	chr12:39496200-39497800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:39496200-39497800	Enhancers	NHEK	skin
4	chr12:39496200-39498000	Enhancers	Liver	Liver
5	chr12:39497400-39497800	Active TSS	Brain Hippocampus Middle	brain
6	chr12:39497400-39498000	Enhancers	Brain Anterior Caudate	brain
7	chr12:39497400-39498200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:39497600-39498000	Active TSS	Brain Angular Gyrus	brain
9	chr12:39497600-39498000	Enhancers	Brain Substantia Nigra	brain
10	chr12:39497600-39498200	Active TSS	Brain Inferior Temporal Lobe	brain

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Input of quick search could be:

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

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