Variant report

Variant	rs12587703
Chromosome Location	chr14:78669702-78669703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11623896	1.00[JPT][hapmap]
rs12590717	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12896828	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs72681729	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8018059	1.00[JPT][hapmap]
rs8018430	0.87[JPT][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	nsv1366	chr14:78633044-78677718	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12587703	VSX2	cis	cerebellum	SCAN
rs12587703	PAPLN	cis	parietal	SCAN
rs12587703	STON2	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78665000-78678000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:78665400-78670000	Enhancers	Fetal Thymus	thymus
3	chr14:78666000-78670200	Enhancers	Thymus	Thymus
4	chr14:78667200-78670200	Enhancers	Primary hematopoietic stem cells	blood
5	chr14:78667400-78670200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:78667600-78669800	Enhancers	Primary B cells from cord blood	blood
7	chr14:78667600-78670200	Enhancers	Dnd41	blood
8	chr14:78667800-78670200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:78668000-78670200	Enhancers	Primary T cells from cord blood	blood
10	chr14:78668400-78669800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:78668400-78670600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:78668600-78670000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:78668600-78670000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:78668600-78670600	Enhancers	NHEK	skin
15	chr14:78669000-78670000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:78669200-78669800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:78669400-78670000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:78669400-78670000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:78669400-78670000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr14:78669400-78670200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:78669400-78672000	Weak transcription	Brain Germinal Matrix	brain
22	chr14:78669600-78670000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:78669600-78670000	Enhancers	HUES48 Cell Line	embryonic stem cell

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