Variant report

Variant	rs8016882
Chromosome Location	chr14:65681787-65681788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65681059..65683272-chr14:65691597..65694149,3	MCF-7	breast:
2	chr14:65681195..65684359-chr14:65877909..65881383,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10150005	0.91[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1679881	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs7161060	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv564932	chr14:65660502-65691545	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv564933	chr14:65667546-65710580	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv992816	chr14:65678629-65686596	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8016882	SLC22A13	trans	parietal	SCAN
rs8016882	PLEK2	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65672800-65691400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:65674000-65691400	Weak transcription	Thymus	Thymus
3	chr14:65675600-65687000	Weak transcription	Fetal Intestine Small	intestine
4	chr14:65675800-65687000	Weak transcription	Fetal Intestine Large	intestine
5	chr14:65677200-65683200	Weak transcription	Brain Germinal Matrix	brain
6	chr14:65677600-65683200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:65678400-65683800	Weak transcription	GM12878-XiMat	blood
8	chr14:65678600-65681800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:65678600-65683200	Weak transcription	Brain Angular Gyrus	brain
10	chr14:65678600-65683400	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:65678600-65683600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:65678600-65690600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:65678800-65681800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:65678800-65683200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:65678800-65684000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:65680800-65682000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:65680800-65682000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:65680800-65682000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:65680800-65682000	Enhancers	Pancreas	Pancrea
20	chr14:65680800-65682200	Enhancers	Fetal Heart	heart
21	chr14:65681200-65682000	Enhancers	Fetal Stomach	stomach
22	chr14:65681200-65682200	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:65681400-65681800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:65681400-65681800	Enhancers	Fetal Muscle Trunk	muscle
25	chr14:65681400-65682000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:65681400-65682000	Enhancers	Colon Smooth Muscle	Colon
27	chr14:65681400-65682000	Enhancers	Left Ventricle	heart
28	chr14:65681400-65682000	Enhancers	Right Atrium	heart
29	chr14:65681400-65682200	Enhancers	Fetal Muscle Leg	muscle
30	chr14:65681400-65682200	Enhancers	Right Ventricle	heart
31	chr14:65681600-65681800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:65681600-65681800	Enhancers	HepG2	liver
33	chr14:65681600-65682000	Enhancers	Brain Substantia Nigra	brain
34	chr14:65681600-65682200	Enhancers	Brain Anterior Caudate	brain

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