Variant report

Variant	rs13383718
Chromosome Location	chr2:167816291-167816292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4493277	0.80[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529384	chr2:167143465-167958752	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription 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
rs13383718	SCN2A	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167814200-167817800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr2:167814200-167818000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:167814200-167818200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:167814400-167818000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:167814400-167818000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:167814600-167817000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:167814600-167817400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:167814600-167818000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:167814800-167817000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:167815400-167817600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:167815400-167817800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:167815600-167817200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:167815600-167817200	Weak transcription	Brain Germinal Matrix	brain
14	chr2:167816000-167817200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:167816000-167817800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:167816000-167818200	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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